Callosome
Gene: SLC4A10EnsemblGeneIds (GRCh38): ENSG00000144290
EnsemblGeneIds (GRCh37): ENSG00000144290
OMIM: 605556, Gene2Phenotype
SLC4A10 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Krithika Murali (Victorian Clinical Genetics Services)
PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.
Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.
Isolated seizures was reported in 2/10 cases.
Sources: LiteratureCreated: 3 Aug 2023, 2:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Publications
- PMID: 37459438
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
- OMIM
- 605556
- Clinvar variants
- Variants in SLC4A10
- Penetrance
- None
- Publications
-
- PMID: 37459438
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: slc4a10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: slc4a10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: slc4a10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: slc4a10 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: SLC4A10 was added gene: SLC4A10 was added to Callosome. Sources: Literature Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to PMID: 37459438 Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related Review for gene: SLC4A10 was set to GREEN