Childhood onset hereditary spastic paraplegia
Gene: TMEM63C
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 3.9
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 3.9
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 28 Jun 2022, 9:36 a.m. | Last Modified: 28 Jun 2022, 9:36 a.m.
Panel Version: 2.139
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID:35718349 reports four TMEM63C variants in seven individuals from three unrelated families with childhood onset hereditary spastic paraplegia, with mild intellectual disability in some cases. Functional studies in PMID:35718349, reveal a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies.
Sources: LiteratureCreated: 28 Jun 2022, 9:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraplegia, MONDO:0019064
Publications
Tag gene-checked tag was added to gene: TMEM63C.
Tag Q3_22_rating was removed from gene: TMEM63C.
Source Expert Review Green was added to TMEM63C. Source NHS GMS was added to TMEM63C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmem63c has been classified as Amber List (Moderate Evidence).
gene: TMEM63C was added gene: TMEM63C was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q3_22_rating tags were added to gene: TMEM63C. Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to 35718349 Phenotypes for gene: TMEM63C were set to hereditary spastic paraplegia, MONDO:0019064 Review for gene: TMEM63C was set to GREEN