TMEM126A

transmembrane protein 126A
OMIM: 612988, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TMEM126A in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 7, MIM# 612989 MONDO:0013069 Syndromic auditory neuropathy spectrum disorder
Green TMEM126A in Optic Atrophy Level 2: Ophthalmological disorders Version 1.45 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 7, MIM# 612989 MONDO:0013069
Green TMEM126A in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of complex I subunits and assembly factors autosomal recessive optic atrophy, OPA7 type MONDO:0013069
Green TMEM126A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Optic atrophy 7, 612989 (3)
Amber TMEM126A in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Optic atrophy 7 MIM#612989 Syndromic auditory neuropathy spectrum disorder
Green TMEM126A in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Optic atrophy 7 MIM#612989