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  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. RAPSN
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Multiple pterygium syndrome_Fetal akinesia sequence

Gene: RAPSN

Green List (high evidence)
RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 13 Jun 2021, 10:13 a.m. | Last Modified: 13 Jun 2021, 10:13 a.m.
Panel Version: 0.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 2, MIM# 618388

Publications

Created: 13 Jun 2021, 10:13 a.m.
Last Modified: 13 Jun 2021, 10:13 a.m.
Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia deformation sequence 2, MIM# 618388
OMIM
601592
Clinvar variants
Variants in RAPSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388

13 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAPSN were set to

13 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAPSN was added gene: RAPSN was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAPSN was set to Unknown