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| Tubulointerstitial kidney disease v0.3 | TMEM67 | Eleanor Williams reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 11 MIM 613550, ?RHYNS syndrome MIM 602152, COACH syndrome, MIM 216306, ?RHYNS syndrome 602152 AR 3, COACH syndrome 216360 AR 3, Joubert syndrome 6, MIM 610688, Meckel syndrome 3, MIM 607361, {Bardet-Biedl syndrome 14, modifier of} MIM 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | TMEM67 |
Eleanor Williams gene: TMEM67 was added gene: TMEM67 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to ?RHYNS syndrome MIM 602152; COACH syndrome 216360 AR 3; {Bardet-Biedl syndrome 14, modifier of} MIM 615991; ?RHYNS syndrome 602152 AR 3; COACH syndrome, MIM 216306; Joubert syndrome 6, MIM 610688; Nephronopthisis 11 MIM 613550; Meckel syndrome 3, MIM 607361 |
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