Ataxia and cerebellar anomalies - narrow panel
Gene: FA2H
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
Limb ataxia is reported as a feature of the condition in at least 13 cases with mainly paediatric onset.
Sources: Expert listCreated: 12 Sep 2020, 3:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 35, autosomal recessive MIM#612319
Publications
Tag Q2_21_rating was removed from gene: FA2H.
Source Expert Review Green was added to FA2H. Source NHS GMS was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: FA2H were set to 31135052
Tag Q2_21_rating tag was added to gene: FA2H.
Gene: fa2h has been classified as Amber List (Moderate Evidence).
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
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