U.S. flag

An official website of the United States government

NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del AND Brain-lung-thyroid syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 17, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002221171.1

Allele description [Variation Report for NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del]

NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del

Genes:
  • AKAP6:A-kinase anchoring protein 6 [Gene - OMIM - HGNC]
  • ARF6:ADP ribosylation factor 6 [Gene - OMIM - HGNC]
  • BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
  • BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
  • BRMS1L:BRMS1 like transcriptional repressor [Gene - OMIM - HGNC]
  • CLEC14A:C-type lectin domain containing 14A [Gene - OMIM - HGNC]
  • CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
  • CMTM5:CKLF like MARVEL transmembrane domain containing 5 [Gene - OMIM - HGNC]
  • DTD2:D-aminoacyl-tRNA deacylase 2 [Gene - HGNC]
  • DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]
  • POLE2:DNA polymerase epsilon 2, accessory subunit [Gene - OMIM - HGNC]
  • EAPP:E2F associated phosphoprotein [Gene - OMIM - HGNC]
  • EMC9:ER membrane protein complex subunit 9 [Gene - HGNC]
  • FBXO33:F-box protein 33 [Gene - OMIM - HGNC]
  • FANCM:FA complementation group M [Gene - OMIM - HGNC]
  • FKBP3:FKBP prolyl isomerase 3 [Gene - OMIM - HGNC]
  • GPR33:G protein-coupled receptor 33 [Gene - OMIM - HGNC]
  • G2E3:G2/M-phase specific E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • HAUS4:HAUS augmin like complex subunit 4 [Gene - OMIM - HGNC]
  • HEATR5A:HEAT repeat containing 5A [Gene - HGNC]
  • HECTD1:HECT domain E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • INSM2:INSM transcriptional repressor 2 [Gene - OMIM - HGNC]
  • KHNYN:KH and NYN domain containing [Gene - OMIM - HGNC]
  • L2HGDH:L-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • LRP10:LDL receptor related protein 10 [Gene - OMIM - HGNC]
  • MDGA2:MAM domain containing glycosylphosphatidylinositol anchor 2 [Gene - OMIM - HGNC]
  • MBIP:MAP3K12 binding inhibitory protein 1 [Gene - OMIM - HGNC]
  • MIA2:MIA SH3 domain ER export factor 2 [Gene - OMIM - HGNC]
  • MIS18BP1:MIS18 binding protein 1 [Gene - OMIM - HGNC]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • NEDD8:NEDD8 ubiquitin like modifier [Gene - OMIM - HGNC]
  • NEDD8-MDP1:NEDD8-MDP1 readthrough [Gene - HGNC]
  • NFKBIA:NFKB inhibitor alpha [Gene - OMIM - HGNC]
  • NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
  • NKX2-8:NK2 homeobox 8 [Gene - OMIM - HGNC]
  • NOP9:NOP9 nucleolar protein [Gene - OMIM - HGNC]
  • NOVA1:NOVA alternative splicing regulator 1 [Gene - OMIM - HGNC]
  • NUBPL:NUBP iron-sulfur cluster assembly factor, mitochondrial [Gene - OMIM - HGNC]
  • NYNRIN:NYN domain and retroviral integrase containing [Gene - OMIM - HGNC]
  • OXA1L:OXA1L mitochondrial inner membrane protein [Gene - OMIM - HGNC]
  • RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REC8:REC8 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBM23:RNA binding motif protein 23 [Gene - HGNC]
  • RN7SL1:RNA component of signal recognition particle 7SL1 [Gene - OMIM - HGNC]
  • RN7SL2:RNA component of signal recognition particle 7SL2 [Gene - OMIM - HGNC]
  • RN7SL3:RNA component of signal recognition particle 7SL3 [Gene - OMIM - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • REM2:RRAD and GEM like GTPase 2 [Gene - OMIM - HGNC]
  • RABGGTA:Rab geranylgeranyltransferase subunit alpha [Gene - OMIM - HGNC]
  • RALGAPA1:Ral GTPase activating protein catalytic subunit alpha 1 [Gene - OMIM - HGNC]
  • ARHGAP5:Rho GTPase activating protein 5 [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SEC23A:SEC23 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
  • TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
  • TOGARAM1:TOG array regulator of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
  • ABHD4:abhydrolase domain containing 4, N-acyl phospholipase B [Gene - OMIM - HGNC]
  • AP1G2:adaptor related protein complex 1 subunit gamma 2 [Gene - OMIM - HGNC]
  • AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
  • ADCY4:adenylate cyclase 4 [Gene - OMIM - HGNC]
  • AJUBA:ajuba LIM protein [Gene - OMIM - HGNC]
  • MGAT2:alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • ACIN1:apoptotic chromatin condensation inducer 1 [Gene - OMIM - HGNC]
  • BAZ1A:bromodomain adjacent to zinc finger domain 1A [Gene - OMIM - HGNC]
  • CDH24:cadherin 24 [Gene - OMIM - HGNC]
  • CARMIL3:capping protein regulator and myosin 1 linker 3 [Gene - OMIM - HGNC]
  • CTSG:cathepsin G [Gene - OMIM - HGNC]
  • CIDEB:cell death inducing DFFA like effector b [Gene - OMIM - HGNC]
  • CBLN3:cerebellin 3 precursor [Gene - OMIM - HGNC]
  • CHMP4A:charged multivesicular body protein 4A [Gene - OMIM - HGNC]
  • CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
  • C14orf119:chromosome 14 open reading frame 119 [Gene - HGNC]
  • C14orf28:chromosome 14 open reading frame 28 [Gene - HGNC]
  • C14orf93:chromosome 14 open reading frame 93 [Gene - HGNC]
  • CMA1:chymase 1 [Gene - OMIM - HGNC]
  • COCH:cochlin [Gene - OMIM - HGNC]
  • CFL2:cofilin 2 [Gene - OMIM - HGNC]
  • CPNE6:copine 6 [Gene - OMIM - HGNC]
  • DAD1:defender against cell death 1 [Gene - OMIM - HGNC]
  • DHRS1:dehydrogenase/reductase 1 [Gene - OMIM - HGNC]
  • DHRS2:dehydrogenase/reductase 2 [Gene - OMIM - HGNC]
  • DHRS4L1:dehydrogenase/reductase 4 like 1 [Gene - OMIM - HGNC]
  • DHRS4L2:dehydrogenase/reductase 4 like 2 [Gene - OMIM - HGNC]
  • DHRS4:dehydrogenase/reductase 4 [Gene - OMIM - HGNC]
  • DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]
  • EGLN3:egl-9 family hypoxia inducible factor 3 [Gene - OMIM - HGNC]
  • EFS:embryonal Fyn-associated substrate [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • FAM177A1:family with sequence similarity 177 member A1 [Gene - OMIM - HGNC]
  • FITM1:fat storage inducing transmembrane protein 1 [Gene - OMIM - HGNC]
  • FSCB:fibrous sheath CABYR binding protein [Gene - OMIM - HGNC]
  • FOXA1:forkhead box A1 [Gene - OMIM - HGNC]
  • FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
  • GEMIN2:gem nuclear organelle associated protein 2 [Gene - OMIM - HGNC]
  • GZMB:granzyme B [Gene - OMIM - HGNC]
  • GZMH:granzyme H [Gene - OMIM - HGNC]
  • GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • HOMEZ:homeobox and leucine zipper encoding [Gene - OMIM - HGNC]
  • IPO4:importin 4 [Gene - HGNC]
  • IRF9:interferon regulatory factor 9 [Gene - OMIM - HGNC]
  • IL25:interleukin 25 [Gene - OMIM - HGNC]
  • JPH4:junctophilin 4 [Gene - OMIM - HGNC]
  • KLHDC1:kelch domain containing 1 [Gene - OMIM - HGNC]
  • KLHDC2:kelch domain containing 2 [Gene - OMIM - HGNC]
  • KLHL28:kelch like family member 28 [Gene - HGNC]
  • LRFN5:leucine rich repeat and fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • LRR1:leucine rich repeat protein 1 [Gene - OMIM - HGNC]
  • LTB4R2:leukotriene B4 receptor 2 [Gene - OMIM - HGNC]
  • LTB4R:leukotriene B4 receptor [Gene - OMIM - HGNC]
  • LINC01588:long intergenic non-protein coding RNA 1588 [Gene - HGNC]
  • LINC01599:long intergenic non-protein coding RNA 1599 [Gene - HGNC]
  • MDP1:magnesium dependent phosphatase 1 [Gene - HGNC]
  • MMP14:matrix metallopeptidase 14 [Gene - OMIM - HGNC]
  • METTL3:methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit [Gene - OMIM - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • MIR208A:microRNA 208a [Gene - OMIM - HGNC]
  • MIR208B:microRNA 208b [Gene - OMIM - HGNC]
  • MIPOL1:mirror-image polydactyly 1 [Gene - OMIM - HGNC]
  • MRPL52:mitochondrial ribosomal protein L52 [Gene - OMIM - HGNC]
  • MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
  • MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
  • NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
  • NGDN:neuroguidin [Gene - OMIM - HGNC]
  • NPAS3:neuronal PAS domain protein 3 [Gene - OMIM - HGNC]
  • NEMF:nuclear export mediator factor [Gene - OMIM - HGNC]
  • NFATC4:nuclear factor of activated T cells 4 [Gene - OMIM - HGNC]
  • OR10G2:olfactory receptor family 10 subfamily G member 2 [Gene - HGNC]
  • OR10G3:olfactory receptor family 10 subfamily G member 3 [Gene - HGNC]
  • OR4E2:olfactory receptor family 4 subfamily E member 2 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • PAX9:paired box 9 [Gene - OMIM - HGNC]
  • PTCSC3:papillary thyroid carcinoma susceptibility candidate 3 [Gene - OMIM - HGNC]
  • PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
  • PNN:pinin, desmosome associated protein [Gene - OMIM - HGNC]
  • PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]
  • PRPF39:pre-mRNA processing factor 39 [Gene - OMIM - HGNC]
  • PSMA6:proteasome 20S subunit alpha 6 [Gene - OMIM - HGNC]
  • PSMB5:proteasome 20S subunit beta 5 [Gene - OMIM - HGNC]
  • PSME1:proteasome activator subunit 1 [Gene - OMIM - HGNC]
  • PSME2:proteasome activator subunit 2 [Gene - OMIM - HGNC]
  • PSMB11:proteasome subunit beta 11 [Gene - OMIM - HGNC]
  • PRMT5:protein arginine methyltransferase 5 [Gene - OMIM - HGNC]
  • PRKD1:protein kinase D1 [Gene - OMIM - HGNC]
  • PRORP:protein only RNase P catalytic subunit [Gene - OMIM - HGNC]
  • PPP1R3E:protein phosphatase 1 regulatory subunit 3E [Gene - OMIM - HGNC]
  • PPP2R3C:protein phosphatase 2 regulatory subunit B''gamma [Gene - OMIM - HGNC]
  • RIPK3:receptor interacting serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RPL10L:ribosomal protein L10 like [Gene - OMIM - HGNC]
  • RPL36AL:ribosomal protein L36a like [Gene - OMIM - HGNC]
  • RPS29:ribosomal protein S29 [Gene - OMIM - HGNC]
  • RNF212B:ring finger protein 212B [Gene - HGNC]
  • RNF31:ring finger protein 31 [Gene - OMIM - HGNC]
  • SCFD1:sec1 family domain containing 1 [Gene - OMIM - HGNC]
  • SPTSSA:serine palmitoyltransferase small subunit A [Gene - OMIM - HGNC]
  • SDR39U1:short chain dehydrogenase/reductase family 39U member 1 [Gene - OMIM - HGNC]
  • SRP54:signal recognition particle 54 [Gene - OMIM - HGNC]
  • SLC22A17:solute carrier family 22 member 17 [Gene - OMIM - HGNC]
  • SLC25A21:solute carrier family 25 member 21 [Gene - OMIM - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]
  • SLC7A8:solute carrier family 7 member 8 [Gene - OMIM - HGNC]
  • SSTR1:somatostatin receptor 1 [Gene - OMIM - HGNC]
  • SNX6:sorting nexin 6 [Gene - OMIM - HGNC]
  • SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
  • STRN3:striatin 3 [Gene - OMIM - HGNC]
  • SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
  • STXBP6:syntaxin binding protein 6 [Gene - OMIM - HGNC]
  • TSSK4:testis specific serine kinase 4 [Gene - OMIM - HGNC]
  • TTC6:tetratricopeptide repeat domain 6 [Gene - HGNC]
  • THTPA:thiamine triphosphatase [Gene - OMIM - HGNC]
  • TRAPPC6B:trafficking protein particle complex subunit 6B [Gene - OMIM - HGNC]
  • TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
  • TM9SF1:transmembrane 9 superfamily member 1 [Gene - OMIM - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • VCPKMT:valosin containing protein lysine methyltransferase [Gene - OMIM - HGNC]
  • ZFHX2:zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q11.2-21.3
Genomic location:
Chr14: 21162263 - 50713602 (on Assembly GRCh37)
Preferred name:
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del
HGVS:
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del
Observations:
1

Condition(s)

Name:
Brain-lung-thyroid syndrome
Synonyms:
Choreoathetosis, hypothyroidism, and neonatal respiratory distress; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Identifiers:
MONDO: MONDO:0012593; MedGen: C1970269; Orphanet: 209905; OMIM: 610978

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002498570Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 17, 2022) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV002498570.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023