Hereditary Spastic Paraplegia - paediatric
Gene: TMEM63CEnsemblGeneIds (GRCh38): ENSG00000165548
EnsemblGeneIds (GRCh37): ENSG00000165548
TMEM63C is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, MIM# 619966
Elena Savva (Victorian Clinical Genetics Services)
PMID: 35718349 - Four NMD PTCs observed in at least 3 unrelated patients. Two segregated strongly in highly consanguineous families.
Common clinical details include mild ID, spastic paraplegia, hypereflexia, spasticity, delayed motor development.
Sources: LiteratureCreated: 14 Jul 2022, 1:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related
Publications
- PMID: 35718349
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spastic paraplegia 87, autosomal recessive, MIM# 619966
- Clinvar variants
- Variants in TMEM63C
- Penetrance
- None
- Publications
-
- PMID: 35718349
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: tmem63c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: tmem63c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: tmem63c has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: TMEM63C was added gene: TMEM63C was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM63C were set to PMID: 35718349 Phenotypes for gene: TMEM63C were set to Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related Review for gene: TMEM63C was set to GREEN