FAM126A

family with sequence similarity 126 member A
OMIM: 610531, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green FAM126A in Cataract Level 2: Ophthalmological disorders Version 0.375	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red FAM126A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy, hypomyelinating MIM#610532
Green FAM126A in Mendeliome Version 1.3512	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes hypomyelinating leukodystrophy 5 MONDO:0012514
Green FAM126A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hypomyelinating leukodystrophy 5 MONDO:0012514
Green FAM126A in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532
Amber FAM126A in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes HMSN Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532
Green FAM126A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3)
Green FAM126A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypomyelination and congenital cataract
Green FAM126A in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 5 MIM#610532
Green FAM126A in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3)
Red FAM126A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Hypomyelinating leukodystrophy 5 MONDO:0012514
Green FAM126A in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 5 MIM#610532