Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Fetal anomalies v2.0 KMT5B Gene migrated from ENSG00000110066 to ENSG00000110066 (gene set migration)
Fetal anomalies v1.505 KMT5B Lucy Spencer Phenotypes for gene: KMT5B were changed from Mental retardation, autosomal dominant 51, MIM#617788 to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788
Fetal anomalies v0.118 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Fetal anomalies v0.118 KMT5B Zornitza Stark Gene: kmt5b has been classified as Red List (Low Evidence).
Fetal anomalies v0.118 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788
Fetal anomalies v0.117 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Fetal anomalies v0.116 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.115 KMT5B Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families.
Sources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present.
Sources: Expert list
Fetal anomalies v0.115 KMT5B Zornitza Stark edited their review of gene: KMT5B: Changed rating: RED
Fetal anomalies v0.0 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT5B were set to KMT5B syndrome