Muscular dystrophy and myopathy_Paediatric
Gene: ISPD
- No distinct genotype-phenotype correlation.
- Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM).
- Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766).
Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420).
Intragenic CNVs are commonly reported for this gene (OMIM).Created: 29 Oct 2020, 10:16 p.m. | Last Modified: 29 Oct 2020, 10:16 p.m.
Panel Version: 0.5174
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
Publications
- No distinct genotype-phenotype correlation. - Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM). - Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766). Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420). Intragenic CNVs are commonly reported for this gene (OMIM).Created: 29 Oct 2020, 10:39 p.m. | Last Modified: 29 Oct 2020, 10:39 p.m.
Panel Version: 0.76
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.Created: 29 Aug 2020, 1:21 a.m. | Last Modified: 29 Aug 2020, 1:21 a.m.
Panel Version: 0.67
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Publications
Tag SV/CNV tag was added to gene: ISPD.
Gene: ispd has been classified as Green List (High Evidence).
Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Publications for gene: ISPD were set to
Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ISPD was added gene: ISPD was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ISPD was set to Unknown