Inherited white matter disorders
Gene: FAM126AAdded 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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Tag new-gene-name tag was added to gene: FAM126A.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for FAM126A were set to 25655951
FAM126A was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
FAM126A was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
FAM126A was created by ellenmcdonagh