Renal Tubulopathies and related disorders
Gene: CDKN1B
Well established association - >3 families reported
Sources: Expert listCreated: 28 Nov 2022, 5:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Publications
>3 families reportedCreated: 19 Apr 2022, 12:08 a.m. | Last Modified: 19 Apr 2022, 12:08 a.m.
Panel Version: 0.13033
Phenotypes
Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
gene: CDKN1B was added gene: CDKN1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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