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  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. RAPSN
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: RAPSN

Red List (low evidence)
RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:24 p.m. | Last Modified: 28 Nov 2019, 4:24 p.m.
Panel Version: 1.121
Created: 28 Nov 2019, 4:24 p.m.
Last Modified: 28 Nov 2019, 4:24 p.m.
Panel version: 1.121

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

CMS gene.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome; Limb-girdle muscular dystrophy

Publications

Created: 10 May 2019, 3 p.m.

Panel version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 1, 208150

Publications

Created: 17 Apr 2019, 12:40 p.m.

Panel version: 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Fetal akinesia deformation sequence 1, 208150
  • Congenital myasthenic syndrome
  • Limb-girdle muscular dystrophy
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: rapsn has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: rapsn has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RAPSN.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to RAPSN.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RAPSN were set to 18179903

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene RAPSN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fetal akinesia deformation sequence 1, 208150 for gene: RAPSN Publications for gene RAPSN were changed from to 18179903

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RAPSN was added gene: RAPSN was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: RAPSN was set to