White matter disorders and cerebral calcification - narrow panel
Gene: FAM126A

FAM126A (family with sequence similarity 126 member A)
EnsemblGeneIds (GRCh38): ENSG00000122591
EnsemblGeneIds (GRCh37): ENSG00000122591
OMIM: 610531, Gene2Phenotype
FAM126A is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for FAM126A is HYCC1.
Created: 21 Nov 2022, 3:11 p.m. | Last Modified: 21 Nov 2022, 3:11 p.m.

Panel Version: 1.246

Created: 21 Nov 2022, 3:11 p.m.
Last Modified: 21 Nov 2022, 3:11 p.m.
Panel version: 1.246

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hypomyelination and Congenital Cataract
Leukodystrophy, hypomyelinating, 5, 610532

Tags

new-gene-name

OMIM

610531

Clinvar variants

Variants in FAM126A

Penetrance

None

Publications

25655951

Panels with this gene

History Filter Activity

21 Nov 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: FAM126A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FAM126A was added gene: FAM126A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 25655951 Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532

White matter disorders and cerebral calcification - narrow panel Gene: FAM126A