Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Mendeliome v1.1935 RINT1 Zornitza Stark Phenotypes for gene: RINT1 were changed from Infantile liver failure syndrome 3, MIM# 618641 to Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related
Mendeliome v1.1934 RINT1 Zornitza Stark Publications for gene: RINT1 were set to PMID: 31204009
Mendeliome v1.1933 RINT1 Zornitza Stark reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463447, 38990652; Phenotypes: Hereditary spastic paraplegia, MONDO:0019064, RINT1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1081 RINT1 Zornitza Stark Phenotypes for gene: RINT1 were changed from Recurrent acute liver failure to Infantile liver failure syndrome 3, MIM# 618641
Mendeliome v0.1019 RINT1 Alison Yeung Marked gene: RINT1 as ready
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1019 RINT1 Alison Yeung Classified gene: RINT1 as Green List (high evidence)
Mendeliome v0.1019 RINT1 Alison Yeung Gene: rint1 has been classified as Green List (High Evidence).
Mendeliome v0.1018 RINT1 Alison Yeung gene: RINT1 was added
gene: RINT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to PMID: 31204009
Phenotypes for gene: RINT1 were set to Recurrent acute liver failure
Review for gene: RINT1 was set to GREEN
gene: RINT1 was marked as current diagnostic
Added comment: three unrelated individuals reported
Sources: Literature