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BabyScreen+ newborn screening v0.1648 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
BabyScreen+ newborn screening v0.1648 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1648 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome; Meckel syndrome to COACH syndrome MIM#216360; Joubert syndrome MIM#10688; Meckel syndrome MIM#607361; Nephronophthisis MIM#613550
BabyScreen+ newborn screening v0.1647 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
BabyScreen+ newborn screening v0.1646 TMEM67 Zornitza Stark Classified gene: TMEM67 as Red List (low evidence)
BabyScreen+ newborn screening v0.1646 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1498 TMEM67 Lilian Downie reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20232449 PMID: 26092869, PMID: 27336129; Phenotypes: COACH syndrome MIM#216360, Joubert syndrome MIM#10688, Meckel syndrome MIM#607361, Nephronophthisis MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome