Hypercalcaemia
Gene: CDKN1BEnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 8 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
More than 3 unrelated individuals reported.
Sources: LiteratureCreated: 28 Sep 2020, 6:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
- OMIM
- 600778
- Clinvar variants
- Variants in CDKN1B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: cdkn1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: cdkn1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: cdkn1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: CDKN1B was added gene: CDKN1B was added to Hypercalcaemia. Sources: Literature Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDKN1B were set to 24819502; 17030811; 23555276 Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Review for gene: CDKN1B was set to GREEN gene: CDKN1B was marked as current diagnostic