Osteopetrosis
Gene: SLC4A2
SLC4A2 (solute carrier family 4 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164889
EnsemblGeneIds (GRCh37): ENSG00000164889
OMIM: 109280, Gene2Phenotype
SLC4A2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000164889
EnsemblGeneIds (GRCh37): ENSG00000164889
OMIM: 109280, Gene2Phenotype
SLC4A2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with homozygous missense variant. However, cattle and mouse models support gene-disease association.
Sources: LiteratureCreated: 5 May 2023, 1:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 9, MIM# 620366
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Osteopetrosis, autosomal recessive 9, MIM# 620366
- OMIM
- 109280
- Clinvar variants
- Variants in SLC4A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
5 May 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc4a2 has been classified as Amber List (Moderate Evidence).
5 May 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc4a2 has been classified as Amber List (Moderate Evidence).
5 May 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC4A2 was added gene: SLC4A2 was added to Osteopetrosis. Sources: Literature Mode of inheritance for gene: SLC4A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A2 were set to 34668226; 20507629 Phenotypes for gene: SLC4A2 were set to Osteopetrosis, autosomal recessive 9, MIM# 620366 Review for gene: SLC4A2 was set to AMBER