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  3. RAPSN
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Hydrops fetalis

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Large cohorts investigating hydrops and recurrent hydrops fetalis identified biallelic variants in 4 independant families. (Correa and Zhou)
Case reports (Winters) family with 2 affected hydrops and arthrogryposis and early neonatal death
Created: 4 Jun 2024, 9:31 p.m. | Last Modified: 4 Jun 2024, 9:31 p.m.
Panel Version: 0.311

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 2 MIM#618388

Publications

Created: 4 Jun 2024, 9:31 p.m.
Last Modified: 4 Jun 2024, 9:31 p.m.
Panel version: 0.311

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No specific reports of hydrops identified for variants in this gene, though generally fetal akinesia is associated with hydrops.
Created: 30 Dec 2019, 7:18 a.m. | Last Modified: 30 Dec 2019, 7:18 a.m.
Panel Version: 0.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 2, MIM# 618388

Publications

Created: 30 Dec 2019, 7:18 a.m.
Last Modified: 30 Dec 2019, 7:18 a.m.
Panel version: 0.86

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

7 Jun 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAPSN were set to 18252226

7 Jun 2024, 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).

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 1

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

30 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAPSN were set to

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 1

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

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAPSN was set to Unknown