Monogenic short stature
Gene: CDT1
CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Meier-Gorlin syndrome is distinguishable due to marked microcephaly and therefore would be investigated under severe microcephaly R88. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Meier-Gorlin.Created: 14 May 2019, 1:25 p.m.
Phenotypes
Meier-Gorlin
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Meier-Gorlin syndrome 4, OMIM:613804
- OMIM
- 605525
- Clinvar variants
- Variants in CDT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CDT1 was added gene: CDT1 was added to Monogenic short stature. Sources: Expert list,Expert Review Red Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 21358632 Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, OMIM:613804