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| Congenital muscular dystrophy v3.22 | GGPS1 | Eleanor Williams Tag Q4_21_rating was removed from gene: GGPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v3.22 | GGPS1 | Eleanor Williams reviewed gene: GGPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v3.21 | GGPS1 |
Eleanor Williams Source Expert Review Green was added to GGPS1. Source NHS GMS was added to GGPS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital muscular dystrophy v3.13 | GGPS1 | Sarah Leigh Publications for gene: GGPS1 were set to 32403198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.31 | GGPS1 | Anna Sarkozy reviewed gene: GGPS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35869884, 32403198; Phenotypes: GGPS1-associated muscular dystrophy with and without hearing loss.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.18 | GGPS1 | Ivone Leong Tag Q4_21_rating tag was added to gene: GGPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.18 | GGPS1 | Ivone Leong Classified gene: GGPS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.18 | GGPS1 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. |
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| Congenital muscular dystrophy v2.18 | GGPS1 | Ivone Leong Gene: ggps1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.17 | GGPS1 | Ivone Leong Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v2.4 | GGPS1 |
Zornitza Stark gene: GGPS1 was added gene: GGPS1 was added to Congenital 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 gene: GGPS1 was marked as current diagnostic Added comment: 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: Literature |
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