Structural eye disease
Gene: TMEM216
Brooks: one family with coloboma; Valente: three familiesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 2; Meckel syndrome 2; 608091; 603194
Publications
Comment on list classification: Promoted from amber to green based on expert review.Created: 21 Jun 2019, 1:05 p.m. | Last Modified: 21 Jun 2019, 1:05 p.m.
Panel Version: 0.78
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Brooks: one family with coloboma; Valente: three familiesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 2, 608091; Meckel syndrome 2, 603194
Publications
Gene: tmem216 has been classified as Green List (High Evidence).
Source NHS GMS was added to TMEM216. Source Expert Review Amber was added to TMEM216. Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216 Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: TMEM216 was added gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome