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Fetal anomalies v0.264 HSPD1 Zornitza Stark edited their review of gene: HSPD1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.264 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Fetal anomalies v0.264 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.264 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 4 to Leukodystrophy, hypomyelinating, 4, MIM# 612233
Fetal anomalies v0.263 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Fetal anomalies v0.262 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.261 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.260 HSPD1 Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.158 HSPD1 Ain Roesley reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4