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  2. Childhood onset hereditary spastic paraplegia
  3. TMEM63C

Childhood onset hereditary spastic paraplegia

Gene: TMEM63C

Green List (high evidence)
TMEM63C (transmembrane protein 63C)
EnsemblGeneIds (GRCh38): ENSG00000165548
EnsemblGeneIds (GRCh37): ENSG00000165548
TMEM63C is in 3 panels

2 reviews

Mafalda Gomes (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 2:55 p.m.
Last Modified: 1 Feb 2023, 2:55 p.m.
Panel version: 3.9

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 28 Jun 2022, 9:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary spastic paraplegia, MONDO:0019064

Publications

Created: 28 Jun 2022, 9:35 a.m.

Panel version: 2.138

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary spastic paraplegia, MONDO:0019064
Tags
gene-checked
Clinvar variants
Variants in TMEM63C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: TMEM63C.

1 Feb 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag Q3_22_rating was removed from gene: TMEM63C.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

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)

28 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tmem63c has been classified as Amber List (Moderate Evidence).

28 Jun 2022, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

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