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Igenomix - Part of Vitrolife Group (Igenomix)

General information

Igenomix - Part of Vitrolife Group
Igenomix
26th St - Umm Hurair 2, Unit 501-502, Building 40, Dubai Healthcare City
Dubai
United Arab Emirates
https://igenomix.net/
Organization ID: 509662

Personnel

  • Sri Hari Chandan Appikonda, Variant scientist/curator
    Phone: 00971 4 5519465
    Email: [email protected]
  • Neetha John, Variant scientist/curator
    Phone: 00971 4 5519465
    Email: [email protected]
  • Lova Satyanarayana Matsa, Principal Investigator
    Phone: 00971 4 5519465
    Email: [email protected]

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 21

Gene

GeneSubmissionsLast Updated
ALMS11Aug 6, 2024
AMHR21Aug 6, 2024
C1QTNF51Aug 6, 2024
CEP1351Aug 6, 2024
CEP781Aug 6, 2024
CSF3R1Aug 6, 2024
ENTPD11Aug 6, 2024
ENTPD1-AS11Aug 6, 2024
FCN31Aug 6, 2024
FOLR11Aug 6, 2024
GLDN1Aug 6, 2024
GTPBP31Aug 6, 2024
HYDIN1Aug 6, 2024
LARGE11Aug 6, 2024
MFRP1Aug 6, 2024
MFSD81Aug 6, 2024
OTOA1Aug 6, 2024
PIGA1Aug 6, 2024
PNKP1Aug 6, 2024
POMT11Aug 6, 2024
RP1L11Aug 6, 2024
SELENON1Aug 6, 2024
SPG111Aug 6, 2024

Condition

NameSubmissionsLast Updated
Alstrom syndrome1Aug 6, 2024
Amyotrophic lateral sclerosis type 51Aug 6, 2024
Ataxia - oculomotor apraxia type 41Aug 6, 2024
Autosomal recessive nonsyndromic hearing loss 221Aug 6, 2024
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1Aug 6, 2024
Cerebral folate transport deficiency1Aug 6, 2024
Charcot-Marie-Tooth disease axonal type 2X1Aug 6, 2024
Combined oxidative phosphorylation defect type 231Aug 6, 2024
Cone-rod dystrophy and hearing loss 11Aug 6, 2024
Eichsfeld type congenital muscular dystrophy1Aug 6, 2024
Hereditary spastic paraplegia 111Aug 6, 2024
Hereditary spastic paraplegia 641Aug 6, 2024
Immunodeficiency due to ficolin3 deficiency1Aug 6, 2024
Late-onset retinal degeneration1Aug 6, 2024
Lethal congenital contracture syndrome 111Aug 6, 2024
Macular dystrophy with central cone involvement1Aug 6, 2024
Microcephaly 8, primary, autosomal recessive1Aug 6, 2024
Microcephaly, seizures, and developmental delay1Aug 6, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 21Aug 6, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Aug 6, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61Aug 6, 2024
Muscular dystrophy-dystroglycanopathy type B61Aug 6, 2024
Neurodevelopmental disorder with epilepsy and hemochromatosis1Aug 6, 2024
Neuronal ceroid lipofuscinosis 71Aug 6, 2024
Persistent Mullerian duct syndrome1Aug 6, 2024
Primary ciliary dyskinesia 51Aug 6, 2024
Retinitis pigmentosa 881Aug 6, 2024