Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: RSPRY1

Amber List (moderate evidence)

RSPRY1 (ring finger and SPRY domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000159579
EnsemblGeneIds (GRCh37): ENSG00000159579
OMIM: 616585, Gene2Phenotype
RSPRY1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported, some functional evidence.
Created: 10 Mar 2020, 8:22 a.m. | Last Modified: 10 Mar 2020, 8:22 a.m.
Panel Version: 0.1679

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
OMIM
616585
Clinvar variants
Variants in RSPRY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rspry1 has been classified as Amber List (Moderate Evidence).

10 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RSPRY1 were changed from to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585

10 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RSPRY1 were set to

10 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RSPRY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rspry1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RSPRY1 was added gene: RSPRY1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RSPRY1 was set to Unknown