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  3. SPATA5
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Cerebral Palsy

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: 1.356
Created: 23 Jul 2024, 10:58 p.m.
Last Modified: 23 Jul 2024, 10:58 p.m.
Panel version: 1.356

Luisa Weiss (University of Adelaide)

Green List (high evidence)

4 individual cases in one large CP cohort study with biallelic SPATA5 mutations. Spasticity has been described in other patients as well while developmental delay seems to be mostly present.
Sources: Literature
Created: 31 Jul 2023, 5:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577

Publications

Created: 31 Jul 2023, 5:59 a.m.

Panel version: 1.144

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 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.

2 Aug 2023, 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).

2 Aug 2023, 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).

31 Jul 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: SPATA5 was added gene: SPATA5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 33528536 Phenotypes for gene: SPATA5 were set to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Review for gene: SPATA5 was set to GREEN