1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. SPIDR
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SPIDR

Amber List (moderate evidence)
SPIDR (scaffolding protein involved in DNA repair)
EnsemblGeneIds (GRCh38): ENSG00000164808
EnsemblGeneIds (GRCh37): ENSG00000164808
OMIM: 615384, Gene2Phenotype
SPIDR is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 9, MIM# 619665

Created: 19 Dec 2021, 6:38 a.m.
Last Modified: 19 Dec 2021, 6:38 a.m.
Panel version: 0.274

Bryony Thompson (Royal Melbourne Hospital)

I don't know

3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Created: 6 Dec 2021, 4:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency

Publications

Created: 6 Dec 2021, 4:15 a.m.

Panel version: 0.269

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ovarian dysgenesis 9, MIM# 619665
OMIM
615384
Clinvar variants
Variants in SPIDR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

6 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

6 Dec 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPIDR was added gene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPIDR were set to 34794894; 34697795; 27967308 Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency Review for gene: SPIDR was set to AMBER