Aminoacidopathy
Gene: SELENBP1EnsemblGeneIds (GRCh38): ENSG00000143416
EnsemblGeneIds (GRCh37): ENSG00000143416
OMIM: 604188, Gene2Phenotype
SELENBP1 is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath.
Knockout mouse model recapitulating the human phenotype including the biochemical characteristics.
Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022
https://search.clinicalgenome.org/CCID:006103
Sources: ClinGenCreated: 9 Jul 2024, 5:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144
- OMIM
- 604188
- Clinvar variants
- Variants in SELENBP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: selenbp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: selenbp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SELENBP1 was added gene: SELENBP1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENBP1 were set to 29255262 Phenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Review for gene: SELENBP1 was set to GREEN