Hereditary Spastic Paraplegia - paediatric
Gene: TMEM63C
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 87, autosomal recessive, MIM# 619966
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
Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966
Gene: tmem63c has been classified as Green List (High Evidence).
Gene: tmem63c has been classified as Green List (High Evidence).
Gene: tmem63c has been classified as Red List (Low Evidence).
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