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Intellectual disability

Gene: CIT

Green List (high evidence)

CIT (citron rho-interacting serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000122966
EnsemblGeneIds (GRCh37): ENSG00000122966
OMIM: 605629, Gene2Phenotype
CIT is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added missing phenotype
Created: 30 Nov 2017, 3:59 p.m.

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
617090

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090
OMIM
605629
Clinvar variants
Variants in CIT
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

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.

30 Nov 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CIT were set to Microcephaly 17, primary, autosomal recessive, 617090

10 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

10 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

10 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

CIT was created by richardhywel

10 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

CIT was added to Intellectual disabilitypanel. Sources: Expert list