Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ISPDComment 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
Known as LGMD 2U or LGMDR20 on new nomenclatureCreated: 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/pdfCreated: 18 Jun 2019, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy; limb girdle muscular dystrophy
Publications
?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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy; limb girdle muscular dystrophy
Publications
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 CRPPACreated: 28 Jan 2019, 4:27 p.m.
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 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 phenotypeCreated: 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 614643Created: 26 Jul 2016, 9:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: ispd has been classified as Green List (High Evidence).
Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: ispd has been classified as Green List (High Evidence).
Source Yorkshire and North East GLH was added to ISPD.
Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Publications for gene: ISPD were set to 23390185
Source NHS GMS was added to ISPD.
Source South West GLH was added to ISPD.
Tag new-gene-name tag was added to gene: ISPD.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
Phenotypes for ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052
ISPD was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory
ISPD was created by sleigh