Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Congenital adrenal hypoplasia v4.8 ABCD1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ABCD1.
Congenital adrenal hypoplasia v4.8 ABCD1 Achchuthan Shanmugasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital adrenal hypoplasia v4.7 ABCD1 Achchuthan Shanmugasundram Source NHS GMS was added to ABCD1.
Source Expert Review Green was added to ABCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital adrenal hypoplasia v4.5 ABCD1 Arina Puzriakova Phenotypes for gene: ABCD1 were changed from X-linked adrenoleukodystrophy to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
Congenital adrenal hypoplasia v4.4 ABCD1 Arina Puzriakova Publications for gene: ABCD1 were set to
Congenital adrenal hypoplasia v4.3 ABCD1 Arina Puzriakova Classified gene: ABCD1 as Amber List (moderate evidence)
Congenital adrenal hypoplasia v4.3 ABCD1 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update as its plausible that ABCD1-related adrenoleukodystrophy, which presents with adrenal insufficiency, could be tested under this panel.
Congenital adrenal hypoplasia v4.3 ABCD1 Arina Puzriakova Gene: abcd1 has been classified as Amber List (Moderate Evidence).
Congenital adrenal hypoplasia v4.2 ABCD1 Arina Puzriakova Mode of inheritance for gene: ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital adrenal hypoplasia v4.1 ABCD1 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: ABCD1.
Congenital adrenal hypoplasia v3.11 ABCD1 Dmitrijs Rots reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Congenital adrenal hypoplasia ABCD1 Ellen McDonagh commented on ABCD1