Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: CDC45
Syndromic coronal/MSS CSS is frequent ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coronal synostosis; Meier-Gorlin syndrome 7, 617063
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CDC45; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on phenotypes: Added phenotypesCreated: 22 Sep 2017, 9:01 a.m.
Comment on list classification: Coronal synostosisCreated: 1 Feb 2016, 10:30 a.m.
Comment on mode of inheritance: mutations likely hypomorphic in combination since this is an essential geneCreated: 1 Feb 2016, 10:23 a.m.
3 cases described in Taylor et al; mutations likely hypomorphic in combination since this is an essential geneCreated: 14 Sep 2015, 1:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Source NHS GMS was added to CDC45. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for CDC45 were set to Coronal synostosis; Meier-Gorlin syndrome 7, 617063
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CDC45 were set to 25985138
Mode of inheritance for CDC45 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CDC45 was added to Craniosynostosis syndromespanel. Sources: Expert list