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  3. SPATA5
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Microcephaly

Gene: SPATA5

Green List (high evidence)
SPATA5 (spermatogenesis associated 5)
EnsemblGeneIds (GRCh38): ENSG00000145375
EnsemblGeneIds (GRCh37): ENSG00000145375
OMIM: 613940, Gene2Phenotype
SPATA5 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: New HGNC approved name is AFG2A
Created: 23 Jul 2024, 10:58 p.m. | Last Modified: 23 Jul 2024, 10:58 p.m.
Panel Version: 1.269
Created: 23 Jul 2024, 10:58 p.m.
Last Modified: 23 Jul 2024, 10:58 p.m.
Panel version: 1.269

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26299366 - 12/14 patients presented with microcephaly, incl 4x with congenital microcephaly and another 4 with acquired microcephaly
Sources: Literature
Created: 14 Jul 2021, 5:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, hearing loss, and mental retardation syndrome MIM#616577

Publications

Created: 14 Jul 2021, 5:17 a.m.

Panel version: 1.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Tags
new gene name
OMIM
613940
Clinvar variants
Variants in SPATA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5 has been classified as Green List (High Evidence).

23 Jul 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: SPATA5.

14 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5 has been classified as Green List (High Evidence).

14 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata5 has been classified as Green List (High Evidence).

14 Jul 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: SPATA5 was added gene: SPATA5 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to PMID: 26299366 Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Review for gene: SPATA5 was set to GREEN