Inherited white matter disorders

Gene: FA2H

Red List (low evidence)

FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:02 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Leukodystrophy is a recognised part of the phenotype.
Created: 23 Jul 2018, 12:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • MIM#612319

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fa2h has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

FA2H was added to Inherited white matter disorders panel. Sources: Expert Review

23 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

FA2H was created by Zornitza Stark