Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: ISPD

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.

Created: 28 Nov 2019, 4:57 p.m. | Last Modified: 28 Nov 2019, 4:57 p.m.

Panel Version: 1.149

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.

Created: 28 Nov 2019, 4:57 p.m. | Last Modified: 28 Nov 2019, 4:57 p.m.

Panel Version: 1.148

Green List (high evidence)

Known as LGMD 2U or LGMDR20 on new nomenclature

Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

this gene is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf

Created: 18 Jun 2019, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital muscular dystrophy; limb girdle muscular dystrophy

Publications

• 23390185

I don't know

?cause of congenital and limb-girdle muscular dystrophies. Clinical input needed. PubMed: 23390185 - 4 patients from 2 unrelated consanguineous families with limb-girdle muscular dystrophy-dystroglycanopathy type C7. Identified 2 different homozygous mutations. Functional studies of the variants were not performed. PubMed: 23288328 - 7 of 44 (16%) non-familial cases of dystroglycanopathy have mutations in ISPD. Phenotypic spectrum ranging from WalkerWarburg syndrome to LGMD.

Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052

Publications

• 23390185
• 23288328

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital muscular dystrophy; limb girdle muscular dystrophy

Publications

• PMID: 23390185

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 30 Apr 2019, 11:45 a.m.

Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA

Created: 28 Jan 2019, 4:27 p.m.

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 8:24 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Only two variants reported in relevant phenotype

Created: 26 Jul 2016, 9:15 a.m.

Comment on phenotypes: Numerous variants reported in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643

Created: 26 Jul 2016, 9:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal