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Prepair 1000+

Gene: FAM126A

Green List (high evidence)

FAM126A (family with sequence similarity 126 member A)
EnsemblGeneIds (GRCh38): ENSG00000122591
EnsemblGeneIds (GRCh37): ENSG00000122591
OMIM: 610531, Gene2Phenotype
FAM126A is in 12 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene-disease association. Hypomyelination and congenital cataract is usually characterised by bilateral congenital cataracts and normal psychomotor/mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity, and mild-to-moderate cognitive impairment. Loss of function is the established mechanism of disease.
Created: 6 Mar 2025, 10:59 p.m. | Last Modified: 6 Mar 2025, 10:59 p.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 5 MIM#610532

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3) for gene: FAM126A

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM126A was added gene: FAM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)