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Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: PIGW.
Congenital disorders of glycosylation v3.4 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.3 PIGW Achchuthan Shanmugasundram Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Tag Q2_21_rating tag was added to gene: PIGW.
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh edited their review of gene: PIGW: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least six variants reported in at least four unrelated cases.; Changed rating: GREEN
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Classified gene: PIGW as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Gene: pigw has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.28 PIGW Sarah Leigh Phenotypes for gene: PIGW were changed from ?Hyperphosphatasia with mental retardation syndrome 5 616025 to Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025; hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Congenital disorders of glycosylation v2.27 PIGW Sarah Leigh Publications for gene: PIGW were set to 24367057
Congenital disorders of glycosylation v2.14 PIGW Zornitza Stark reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: intractable seizures, West syndrome, severe developmental delay, dysmorphic facial features, hyperphosphatasia, epilepsy, recurrent respiratory infections, hypotonia, stereotypies, Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation PIGW Sarah Leigh marked PIGW as ready
Congenital disorders of glycosylation PIGW Sarah Leigh commented on PIGW
Congenital disorders of glycosylation PIGW Sarah Leigh classified PIGW as red
Congenital disorders of glycosylation PIGW Daniel Ungar added PIGW to panel
Congenital disorders of glycosylation PIGW Daniel Ungar reviewed PIGW