Activity

Filter

Cancel
Date Panel Item Activity
7 actions
BabyScreen+ newborn screening v1.114 GREB1L Tommy Li Added phenotypes Deafness, autosomal dominant 80 MIM#619274 for gene: GREB1L
BabyScreen+ newborn screening v0.2165 GREB1L Zornitza Stark Tag deafness tag was added to gene: GREB1L.
BabyScreen+ newborn screening v0.2163 GREB1L Zornitza Stark Marked gene: GREB1L as ready
BabyScreen+ newborn screening v0.2163 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2163 GREB1L Zornitza Stark Classified gene: GREB1L as Green List (high evidence)
BabyScreen+ newborn screening v0.2163 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2141 GREB1L Lilian Downie gene: GREB1L was added
gene: GREB1L was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to PMID: 29955957, 32585897
Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80 MIM#619274
Review for gene: GREB1L was set to GREEN
Added comment: Congenital hearing impairment with cochlear abnormalities
This gene also causes Renal hypodysplasia/aplasia 3 MIM#617805 with no clear difference in mutation spectrum
Sources: Expert list