Growth failure in early childhood
Gene: PCNT
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. Seckel 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: MOPDII.Created: 14 May 2019, 1:25 p.m.
Phenotypes
MOPDII
Source Expert Review Red was added to PCNT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Expert list was added to PCNT. Added phenotypes MOPDII for gene: PCNT
Publications for gene: PCNT were set to 18157127, 18174396
Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720
gene: PCNT was added gene: PCNT was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18157127, 18174396 Phenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance