Congenital 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 19 panels

4 reviews

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; 616052

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:26 p.m.

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green expert review, confirmed DD gene for Walker-Warburg Syndrome and >3 cases/family reports.
Created: 17 Jan 2017, 10:52 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Walker-Warburg syndrome (WWS)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
  • 616052
Tags
new-gene-name
OMIM
614631
Clinvar variants
Variants in ISPD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ISPD were changed from to 22522420, 22522421

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ISPD.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to ISPD. Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Jan 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

17 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Jan 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Walker-Warburg syndrome (WWS);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;616052

17 Jan 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Walker-Warburg syndrome (WWS);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7;616052

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ISPD was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ISPD was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ISPD was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen