Rare multisystem ciliopathy disorders
Gene: TMEM231Comment on list classification: 2 Joubert families and 2 families with Meckel syndrome. offered on GOS panelCreated: 19 Jan 2017, 4:38 p.m.
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.Created: 16 Mar 2016, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TMEM231 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
TMEM231 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
TMEM231 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
TMEM231 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene TMEM231 were set to Joubert syndrome 20, 614970;Meckel syndrome 11, 615397
TMEM231 was created by ellenmcdonagh
TMEM231 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list