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DDG2P v3.71 EDNRB Achchuthan Shanmugasundram changed review comment from: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.; to: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: EDNRB.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram commented on gene: EDNRB: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME, OMIM:600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.48 EDNRB Achchuthan Shanmugasundram Phenotypes for gene: EDNRB were changed from ABCD SYNDROME 600501 to ABCD SYNDROME, OMIM:600501
DDG2P v3.12 EDNRB Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7778600; Phenotypes: ABCD SYNDROME, OMIM:600501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 EDNRB Achchuthan Shanmugasundram Publications for gene: EDNRB were updated from 7778600; 11891690 to 7778600; 11891690
DDG2P v2.76 EDNRB Eleanor Williams commented on gene: EDNRB
DDG2P v2.51 EDNRB Ivone Leong Tag Q4_21_MOI tag was added to gene: EDNRB.
DDG2P v2.51 EDNRB Ivone Leong Publications for gene: EDNRB were set to 7778600
DDG2P v2.50 EDNRB Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: 7778600, 11891690; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.2 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EDNRB were set to 7778600
Phenotypes for gene: EDNRB were set to ABCD SYNDROME 600501