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Mendeliome

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 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association
Created: 26 Apr 2022, 4:12 a.m. | Last Modified: 26 Apr 2022, 4:12 a.m.
Panel Version: 0.13315

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 17, primary, autosomal recessive (MIM#617090)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 17, primary, autosomal recessive (MIM#617090)
OMIM
605629
Clinvar variants
Variants in CIT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cit has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CIT were set to 27453578; 27503289; 27453579

26 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CIT were changed from Microcephaly 17, primary, autosomal recessive (MIM#617090) to Microcephaly 17, primary, autosomal recessive (MIM#617090)

26 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CIT were changed from to Microcephaly 17, primary, autosomal recessive (MIM#617090)

26 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CIT were set to

26 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CIT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CIT was added gene: CIT was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CIT was set to Unknown