Rare multisystem ciliopathy disorders
Gene: CC2D2A
Positives within our diagnostic patient cohort. Evidence in literature.Created: 15 Mar 2016, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases/families in OMIM and different variants reported for Joubert syndrome 9.Created: 27 Aug 2016, 10:07 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
CC2D2A was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
Promoted to version 1 by Alice Gardham on 26th January 2017
CC2D2A was added to Rare multisystem ciliopathy disorderspanel. Source: Other
CC2D2A was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
Phenotypes for CC2D2A were set to Joubert syndrome 9;Meckel syndrome 6;COACH syndrome
This gene has been classified as Green List (High Evidence).
CC2D2A was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
CC2D2A was created by ellenmcdonagh