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  2. Growth failure in early childhood
  3. CDT1
STRs in panel
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Growth failure in early childhood

Gene: CDT1

Red List (low evidence)
CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 8 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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.
Created: 30 May 2019, 9:49 a.m.

Panel version: 0.23

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 14 May 2019, 1:25 p.m.

Panel version: 0.17

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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin syndrome 4, 613804; Meier-Gorlin to Meier-Gorlin syndrome 4, OMIM:613804

30 May 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to CDT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

14 May 2019, Gel status: 4

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to CDT1. Added phenotypes Meier-Gorlin for gene: CDT1

8 May 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin syndrome 4, 613804

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CDT1 was added gene: CDT1 was added to Growth failure in early childhood. Sources: Expert Review Green 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 micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia