Callosome
Gene: ABATEnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.Created: 23 Nov 2019, 1:43 a.m. | Last Modified: 23 Aug 2020, 2:31 a.m.
Panel Version: 0.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GABA-transaminase deficiency, MIM#613163
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genetic Health Queensland
- Victorian Clinical Genetics Services
- Phenotypes
-
- GABA-transaminase deficiency, MIM#613163
- OMIM
- 137150
- Clinvar variants
- Variants in ABAT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Neurotransmitter Defects
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abat has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ABAT were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abat has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABAT was added gene: ABAT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABAT was set to Unknown