Ataxia - adult onset
Gene: FAT2EnsemblGeneIds (GRCh38): ENSG00000086570
EnsemblGeneIds (GRCh37): ENSG00000086570
OMIM: 604269, Gene2Phenotype
FAT2 is in 2 panels
4 reviews
Elena Savva (Victorian Clinical Genetics Services)
Additional family with history of cerebellar ataxia. Two siblings whom developed symptoms in their 70s and 80s, respectively, shown to have novel heterozygous c.10906T>G, p.Tyr3636Asp FAT2 (SCA45) variant on WES. Repeat extension testing in SCA genes was negative.
Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.Created: 25 May 2022, 11:30 p.m. | Last Modified: 25 May 2022, 11:30 p.m.
Panel Version: 1.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 45, MIM#617769
Publications
Seb Lunke (Victorian Clinical Genetics Services)
Additional family with history of cerebellar ataxia. Two siblings whom developed symptoms in their 70s and 80s, respectively, shown to have novel heterozygous c.10906T>G, p.Tyr3636Asp FAT2 (SCA45) variant on WES. Repeat extension testing in SCA genes was negative.Created: 8 Jul 2021, 4:43 a.m. | Last Modified: 8 Jul 2021, 4:43 a.m.
Panel Version: 0.132
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 45, MIM#617769
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert listCreated: 27 Dec 2019, 5:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 45, MIM#617769
Publications
Bryony Thompson (Royal Melbourne Hospital)
Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence.
Sources: Expert listCreated: 27 Dec 2019, 5:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 45, MIM#617769
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Expert list
- Royal Melbourne Hospital
- GeneReviews
- Phenotypes
-
- Spinocerebellar ataxia 45, MIM#617769
- OMIM
- 604269
- Clinvar variants
- Variants in FAT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fat2 has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: FAT2 were changed from Spinocerebellar ataxia 45 to Spinocerebellar ataxia 45, MIM#617769
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fat2 has been classified as Green List (High Evidence).
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: FAT2 were set to 29053796
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FAT2 was added gene: FAT2 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FAT2 were set to 29053796 Phenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45