As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Hydrocephalus only reported in one case identified. Multi-system disorder expected to be ascertained elsewhere therefore not for inclusion here
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome 2
Source NHS GMS was added to TMEM216.
31.05.2017 - panel revised after internal curation and clinical review.
TMEM216 was added to Hydrocephaluspanel. Source: Expert Review Red
TMEM216 was added to Hydrocephaluspanel. Sources: Literature
TMEM216 was created by helen.brittain