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  2. Monogenic short stature
  3. CDC6
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Monogenic short stature

Gene: CDC6

Red List (low evidence)
CDC6 (cell division cycle 6)
EnsemblGeneIds (GRCh38): ENSG00000094804
EnsemblGeneIds (GRCh37): ENSG00000094804
OMIM: 602627, Gene2Phenotype
CDC6 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.

Copied from panel: Growth failure in early childhood v3.78

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.

Copied from panel: Growth failure in early childhood v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 5, OMIM:613805
  • patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
OMIM
602627
Clinvar variants
Variants in CDC6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: CDC6 was added gene: CDC6 was added to Monogenic short stature. Sources: Expert Review Red,Expert list Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC6 were set to 21358632 Phenotypes for gene: CDC6 were set to ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia