Growth failure in early childhood
Gene: ANKRD11
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that ANKRD11 should be included on the panel. Although most skeletal dysplasias are not included in this panel, KBG syndrome is a short stature condition in which skeletal features might be less prominent. 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: KBG.Created: 14 May 2019, 1:25 p.m.
Phenotypes
KBG
Phenotypes for gene: ANKRD11 were changed from KBG; KBG syndrome, 148050 to KBG syndrome, OMIM:148050
Source Expert list was added to ANKRD11. Added phenotypes KBG for gene: ANKRD11
Phenotypes for gene: ANKRD11 were changed from 148050; KBG syndrome to KBG syndrome, 148050
gene: ANKRD11 was added gene: ANKRD11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 21782149 Phenotypes for gene: ANKRD11 were set to 148050; KBG syndrome