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Fetal anomalies v0.3893 PTHLH Zornitza Stark Marked gene: PTHLH as ready
Fetal anomalies v0.3893 PTHLH Zornitza Stark Gene: pthlh has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3893 PTHLH Zornitza Stark Classified gene: PTHLH as Amber List (moderate evidence)
Fetal anomalies v0.3893 PTHLH Zornitza Stark Gene: pthlh has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3892 PTHLH Zornitza Stark changed review comment from: Identifiable prenatally.; to: May be identifiable prenatally.
Fetal anomalies v0.3892 PTHLH Zornitza Stark edited their review of gene: PTHLH: Changed rating: AMBER
Fetal anomalies v0.3892 PTHLH Zornitza Stark Phenotypes for gene: PTHLH were changed from BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS to Brachydactyly, type E2, MIM# 613382
Fetal anomalies v0.3891 PTHLH Zornitza Stark reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type E2, MIM# 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 PTHLH Zornitza Stark gene: PTHLH was added
gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS