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Microcephaly

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)

PMID: 27453578
- 3 consanguineous families with 7 affecteds and head circumferences ranging from -5.6 SD to -8.4 SD

PMID: 27503289
- 2 consanguineous families with 2 affecteds and OFCs of -9 and -10 SDs

PMID: 27453579
- 3 families (2 consanguineous) with 6 affecteds
- only 3 had OFCs records:: birth and last examined ranged from -3.5 to -12 SDs

*mix of missense and PTVs
Sources: Literature
Created: 2 Sep 2020, 4:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 17, primary, autosomal recessive (MIM#617090)
OMIM
605629
Clinvar variants
Variants in CIT
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CIT was added gene: CIT was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIT were set to 27453578; 27503289; 27453579 Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive (MIM#617090) Penetrance for gene: CIT were set to unknown Review for gene: CIT was set to GREEN