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Renal Ciliopathies and Nephronophthisis v0.208 | BBS12 | Zornitza Stark Marked gene: BBS12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.208 | BBS12 | Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.208 | BBS12 | Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.207 | BBS12 | Zornitza Stark Publications for gene: BBS12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.206 | BBS12 | Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.205 | BBS10 | Zornitza Stark Marked gene: BBS10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.205 | BBS10 | Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.205 | BBS10 | Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.204 | BBS10 | Zornitza Stark Publications for gene: BBS10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.203 | BBS10 | Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.202 | BBS10 | Zornitza Stark changed review comment from: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients; to: BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients. Renal anomalies, including cysts reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.202 | BBS1 | Zornitza Stark Marked gene: BBS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.202 | BBS1 | Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.202 | BBS1 | Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.201 | BBS1 | Zornitza Stark Publications for gene: BBS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.200 | BBS1 | Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Ciliopathies and Nephronophthisis v0.199 | BBS1 |
Zornitza Stark changed review comment from: Well established gene-disease association. Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease.; to: Well established gene-disease association. Renal abnormalities reported. Some suggestion that heterozygotes may have an increased frequency of obesity, hypertension, diabetes mellitus, and renal disease. |
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Renal Ciliopathies and Nephronophthisis v0.0 | BBS12 |
Zornitza Stark gene: BBS12 was added gene: BBS12 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: BBS12 was set to Unknown |
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Renal Ciliopathies and Nephronophthisis v0.0 | BBS10 |
Zornitza Stark gene: BBS10 was added gene: BBS10 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: BBS10 was set to Unknown |
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Renal Ciliopathies and Nephronophthisis v0.0 | BBS1 |
Zornitza Stark gene: BBS1 was added gene: BBS1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: BBS1 was set to Unknown |