Growth failure in early childhood
Gene: CDT1
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.
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
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
Source Expert Review Red was added to CDT1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Expert list was added to CDT1. Added phenotypes Meier-Gorlin for gene: CDT1
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
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