White matter disorders and cerebral calcification - narrow panel
Gene: FA2H
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least eight variants reported in seven unrelated cases.Created: 14 Apr 2021, 2:26 p.m. | Last Modified: 14 Apr 2021, 2:26 p.m.
Panel Version: 1.38
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Apr 2021, 2:23 p.m. | Last Modified: 14 Apr 2021, 2:23 p.m.
Panel Version: 1.36
White matter abnormalities are a prominent feature of this SPG.Created: 15 Sep 2020, 10:28 a.m. | Last Modified: 15 Sep 2020, 10:28 a.m.
Panel Version: 1.14
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 NHS GMS was added to FA2H. Source Expert Review Green was added to FA2H. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: FA2H.
Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive OMIM:612319; hereditary spastic paraplegia 35 MONDO:0012866
Publications for gene: FA2H were set to MIM#612319
Gene: fa2h has been classified as Amber List (Moderate Evidence).
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: FA2H was added gene: FA2H was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FA2H were set to MIM#612319