Growth failure in early childhood
Gene: TRIM37
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that TRIM37 should be included on the panel. In general, metabolic conditions associated with short stature are also associated with significant intellectual disability and other features. However an important exception is Mulibrey nanism, which is a differential diagnosis for short stature in patients of Finnish origin in particular. Therefore kept rating as Green.Created: 30 May 2019, 9:34 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: Mulibrey nanismCreated: 14 May 2019, 1:25 p.m.
Phenotypes
Mulibrey nanism
Phenotypes for gene: TRIM37 were changed from Mulibery Nanism, 253250; Mulibrey nanism to Mulibrey nanism, OMIM:253250
Source Expert list was added to TRIM37. Added phenotypes Mulibrey nanism for gene: TRIM37
Phenotypes for gene: TRIM37 were changed from Mulibery Nanism to Mulibery Nanism, 253250
gene: TRIM37 was added gene: TRIM37 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibery Nanism