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Cholestasis v1.81 CC2D2A Arina Puzriakova Tag curated_removed tag was added to gene: CC2D2A.
Cholestasis v1.76 CC2D2A Ivone Leong Tag for-review was removed from gene: CC2D2A.
Cholestasis v1.19 CC2D2A Ivone Leong Classified gene: CC2D2A as No list
Cholestasis v1.19 CC2D2A Ivone Leong Added comment: Comment on list classification: This gene has been downgraded from Green to Grey based on expert review from Miranda Durkie (Genetics).
Cholestasis v1.19 CC2D2A Ivone Leong Gene: cc2d2a has been removed from the panel.
Cholestasis v1.8 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 to COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285; Congenital hepatic fibrosis; Ciliopathy
Cholestasis v1.7 CC2D2A Ivone Leong Publications for gene: CC2D2A were set to 27959436; 19574260; 18950740
Cholestasis v1.6 CC2D2A Ivone Leong Tag for-review tag was added to gene: CC2D2A.
Cholestasis v1.4 CC2D2A Miranda Durkie reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: ; Publications: 28680603; Phenotypes: ; Mode of inheritance:
Cholestasis v0.15 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Cholestasis v0.15 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Cholestasis v0.13 CC2D2A Ivone Leong Classified gene: CC2D2A as Green List (high evidence)
Cholestasis v0.13 CC2D2A Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. Promoted from amber to green.
Cholestasis v0.13 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Cholestasis v0.10 CC2D2A Ivone Leong Source Other was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from to 27959436; 19574260; 18950740
Cholestasis v0.4 CC2D2A Ivone Leong Source Expert Review Amber was added to CC2D2A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.3 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CC2D2A was set to