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Severe Paediatric Disorders

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 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for FAM126A is HYCC1.
Created: 21 Nov 2022, 3:18 p.m. | Last Modified: 21 Nov 2022, 3:18 p.m.
Panel Version: 1.129

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FAM126A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 5, 610532 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
new-gene-name
OMIM
610531
Clinvar variants
Variants in FAM126A
Penetrance
None
Publications
Panels with this gene