Dystonia - childhood onset

Gene: FA2H

Green List (high evidence)

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

0 reviews

History Filter Activity

9 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

Eleanor Williams (Genomics England Curator)

gene: FA2H was added gene: FA2H was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 19068277 Phenotypes for gene: FA2H were set to fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive 612319; Dystonia