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Intellectual disability

Gene: CCNA2

Red List (low evidence)

CCNA2 (cyclin A2)
EnsemblGeneIds (GRCh38): ENSG00000145386
EnsemblGeneIds (GRCh37): ENSG00000145386
OMIM: 123835, Gene2Phenotype
CCNA2 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with phenotype in OMIM but as a possible G2P gene. At least 1 variant reported, to segregate with autosomal recessive moderate mental retardation mapped to chromosome 4q, in affected members of a consanguineous Iranian family (PMID 21937992).
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive mental retardation
OMIM
123835
Clinvar variants
Variants in CCNA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene CCNA2 was set to ['21937992', ' 26350204', ' 21937992']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CCNA2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCNA2 was created by ellenmcdonagh