Muscular dystrophy and myopathy_Paediatric
Gene: GGPS1Comment on list classification: Muscular dystrophy ranged from prenatal/congenital onset with progression to loss of ambulation and respiratory failure in early teenage years, to milder manifestations with preserved ambulation into adulthood.Created: 29 Jul 2020, 11:53 p.m. | Last Modified: 29 Jul 2020, 11:53 p.m.
Panel Version: 0.255
11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Sources: LiteratureCreated: 8 Jul 2020, 12:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency
Publications
Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency
Gene: ggps1 has been classified as Green List (High Evidence).
Gene: ggps1 has been classified as Green List (High Evidence).
gene: GGPS1 was added gene: GGPS1 was added to Muscular dystrophy. Sources: Literature Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGPS1 were set to 32403198 Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency Review for gene: GGPS1 was set to GREEN