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Prepair 1000+

Gene: FA2H

Green List (high evidence)
FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 14 panels

2 reviews

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 35, autosomal recessive, 612319 (3)

Publications

Created: 21 Nov 2024, 2:21 a.m.
Last Modified: 21 Nov 2024, 2:21 a.m.
Panel version: 1.559

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Complex form of HSP characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. In addition, some individuals have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA). Most patients become wheelchair-bound in adolescence or as young adults
Created: 21 Jul 2022, 5:56 a.m. | Last Modified: 21 Jul 2022, 5:56 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 35, autosomal recessive (MIM#612319)

Publications

Created: 21 Jul 2022, 5:56 a.m.
Last Modified: 21 Jul 2022, 5:56 a.m.
Panel version: 0.58

History Filter Activity

25 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fa2h has been classified as Green List (High Evidence).

25 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FA2H were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FA2H was added gene: FA2H was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)