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NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) AND Coxopodopatellar syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001251076.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)]

NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)

Gene:
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)
HGVS:
  • NC_000017.11:g.61467510G>A
  • NG_008080.1:g.16065G>A
  • NM_001321120.2:c.402G>AMANE SELECT
  • NM_018488.3:c.402G>A
  • NP_001308049.1:p.Trp134Ter
  • NP_060958.2:p.Trp134Ter
  • LRG_1206t1:c.402G>A
  • LRG_1206:g.16065G>A
  • LRG_1206p1:p.Trp134Ter
  • NC_000017.10:g.59544871G>A
  • NM_018488.2:c.402G>A
Protein change:
W134*; TRP134TER
Links:
OMIM: 601719.0011; dbSNP: rs1603251494
NCBI 1000 Genomes Browser:
rs1603251494
Molecular consequence:
  • NM_001321120.2:c.402G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018488.3:c.402G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Coxopodopatellar syndrome
Synonyms:
Ischiopatellar dysplasia; Scott-Taor syndrome; ISCHIOCOXOPODOPATELLAR SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007841; MedGen: C1840061; Orphanet: 1509; OMIM: 147891

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426465OMIM
no assertion criteria provided
Pathogenic
(Aug 4, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.

Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A.

Eur J Hum Genet. 2020 May;28(5):669-673. doi: 10.1038/s41431-020-0572-5. Epub 2020 Jan 21.

PubMed [citation]
PMID:
31965066
PMCID:
PMC7170885

Details of each submission

From OMIM, SCV001426465.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a consanguineous Indian family in which 3 fetuses had posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS; 601360) and the parents had ischiocoxopodopatellar syndrome (ICPPS; 147891), Ranganath et al. (2020) identified a c.402G-A transition (c.402G-A, NM_018488.2) in the TBX4 gene, resulting in a trp134-to-ter (W134X) substitution. The mutation, which was detected in homozygosity in an affected fetus and in heterozygosity in the consanguineous parents, was not found in 700 exomes in an in-house database from the Indian population, or in the 1000 Genomes Project, ExAC, or gnomAD databases.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024