Inherited white matter disorders
Gene: FAM126AEnsemblGeneIds (GRCh38): ENSG00000122591
EnsemblGeneIds (GRCh37): ENSG00000122591
OMIM: 610531, Gene2Phenotype
FAM126A is in 9 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for FAM126A is HYCC1.Created: 21 Nov 2022, 3:15 p.m. | Last Modified: 21 Nov 2022, 3:15 p.m.
Panel Version: 1.163
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKODYSTROPHY HYPOMYELINATING TYPE 5, multiple cases and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:21 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_594
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. At least four variants reported in this phenotype.Created: 6 Jul 2016, 10:33 a.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 10:32 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hypomyelination and Congenital Cataract
- Leukodystrophy, hypomyelinating, 5, 610532
- Tags
- OMIM
- 610531
- Clinvar variants
- Variants in FAM126A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: FAM126A.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for FAM126A were set to 25655951
Added New Source
Ellen McDonagh (Genomics England Curator)FAM126A was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FAM126A was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)FAM126A was created by ellenmcdonagh