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Additional findings_Paediatric v0.2 BBS12 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS12
Additional findings_Paediatric v0.2 BBS10 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS10
Additional findings_Paediatric v0.2 BBS1 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS1
Additional findings_Paediatric v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome