Segmental overgrowth disorders

Gene: CCND2

Green List (high evidence)

CCND2 (cyclin D2)
EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 9 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: CCND2 rated as green based on expert review and confirmed DD gene.
Created: 15 Nov 2016, 11:49 a.m.
Comment on list classification: Updated rating from Red to Green because CCND2 in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:49 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
OMIM
123833
Clinvar variants
Variants in CCND2
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Nov 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CCND2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Nov 2016, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

CCND2 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CCND2 was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CCND2 was created by rfoulger

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CCND2 was added to Regional overgrowth disorderspanel. Sources: Expert Review