1. Panels
  2. Renal Tubulopathies and related disorders
  3. CDKN1B
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: CDKN1B

Green List (high evidence)
CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 8 panels

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established association - >3 families reported
Sources: Expert list
Created: 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

Created: 28 Nov 2022, 5:56 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version 0.44

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 families reported
Created: 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

Created: 19 Apr 2022, 12:08 a.m.
Last Modified: 19 Apr 2022, 12:08 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.13033

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 3 unrelated individuals reported.
Sources: Literature
Created: 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

Created: 28 Sep 2020, 6:48 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypercalcaemia panel version 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • 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

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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