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Mendeliome

Gene: SRPRA

Amber List (moderate evidence)

SRPRA (SRP receptor alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000182934
EnsemblGeneIds (GRCh37): ENSG00000182934
OMIM: 182180, Gene2Phenotype
SRPRA is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

De novo variant; zebrafish model. Schwachman-Diamond like.
Sources: Literature
Created: 9 Mar 2023, 10:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
OMIM
182180
Clinvar variants
Variants in SRPRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRPRA was added gene: SRPRA was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRPRA were set to 36223592 Phenotypes for gene: SRPRA were set to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Review for gene: SRPRA was set to AMBER