Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: FA2H

Amber List (moderate evidence)

FA2H (fatty acid 2-hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000103089
EnsemblGeneIds (GRCh37): ENSG00000103089
OMIM: 611026, Gene2Phenotype
FA2H is in 18 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.
Created: 14 Apr 2021, 2:19 p.m. | Last Modified: 14 Apr 2021, 2:19 p.m.
Panel Version: 2.101
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Apr 2021, 2:18 p.m. | Last Modified: 14 Apr 2021, 2:18 p.m.
Panel Version: 2.101

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert list
Created: 12 Sep 2020, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 35, autosomal recessive MIM#612319

Publications

History Filter Activity

14 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FA2H were set to 31135052

14 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FA2H.

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fa2h has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive MIM#612319 to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FA2H was added gene: FA2H was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to 31135052 Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive MIM#612319 Review for gene: FA2H was set to GREEN