Limb girdle muscular dystrophy

Gene: ISPD

Green List (high evidence)

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 18 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

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

Chiara Marini Bettolo (NUTH)

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

Natalie Forrester (SWGLH - Bristol Genetics)

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

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital muscular dystrophy; limb girdle muscular dystrophy

Publications

Louise Daugherty (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
  • congenital muscular dystrophy
  • limb girdle muscular dystrophy
Tags
new-gene-name
OMIM
614631
Clinvar variants
Variants in ISPD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ispd has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ISPD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ispd has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ISPD.

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ISPD were set to 23390185

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ISPD.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ISPD.

28 Jan 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ISPD.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052

26 Jul 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ISPD was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ISPD was created by sleigh