Microcephaly
Gene: CITEnsemblGeneIds (GRCh38): ENSG00000122966
EnsemblGeneIds (GRCh37): ENSG00000122966
OMIM: 605629, Gene2Phenotype
CIT is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cit has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cit has been classified as Green List (High Evidence).
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