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Mendeliome

Gene: SPATA13

Amber List (moderate evidence)

SPATA13 (spermatogenesis associated 13)
EnsemblGeneIds (GRCh38): ENSG00000182957
EnsemblGeneIds (GRCh37): ENSG00000182957
OMIM: 613324, Gene2Phenotype
SPATA13 is in 1 panel

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

LIMITED Classification by ClinGen Glaucoma and Neuro-Ophthalmology GCEP on 16/03/2023 - https://search.clinicalgenome.org/CCID:006261
Created: 6 May 2024, 3:05 a.m. | Last Modified: 6 May 2024, 3:05 a.m.
Panel Version: 1.1770

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
primary angle-closure glaucoma MONDO:0001868

Publications

  • https://search.clinicalgenome.org/CCID:006261

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Adult-onset.
Created: 1 Jun 2020, 5:22 a.m. | Last Modified: 1 Jun 2020, 5:22 a.m.
Panel Version: 0.2949

Ain Roesley (Victorian Clinical Genetics Services)

PMID: 32339198; 10 unrelated probands with missense except for 2 families with inframe del of 9bp.
Sources: Literature
Created: 1 Jun 2020, 5 a.m. | Last Modified: 1 Jun 2020, 5:01 a.m.
Panel Version: 0.2943

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
primary angle-closure glaucoma

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • primary angle-closure glaucoma MONDO:0001868
OMIM
613324
Clinvar variants
Variants in SPATA13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPATA13 were changed from primary angle-closure glaucoma to primary angle-closure glaucoma MONDO:0001868

7 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata13 has been classified as Amber List (Moderate Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata13 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata13 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: SPATA13 was added gene: SPATA13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPATA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPATA13 were set to PMID: 32339198 Phenotypes for gene: SPATA13 were set to primary angle-closure glaucoma