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Severe microcephaly v2.282 ANKLE2 Eleanor Williams Tag for-review was removed from gene: ANKLE2.
Severe microcephaly v2.282 ANKLE2 Sarah Leigh commented on gene: ANKLE2
Severe microcephaly v2.281 ANKLE2 Eleanor Williams Source Expert Review Green was added to ANKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.85 ANKLE2 Arina Puzriakova Tag for-review tag was added to gene: ANKLE2.
Severe microcephaly v2.85 ANKLE2 Arina Puzriakova Phenotypes for gene: ANKLE2 were changed from ?Microcephaly 16, primary, autosomal recessive, 616681 to Microcephaly 16, primary, autosomal recessive, OMIM:616681; Microcephaly 16, primary, autosomal recessive, MONDO:0014730
Severe microcephaly v2.84 ANKLE2 Arina Puzriakova Publications for gene: ANKLE2 were set to 25259927
Severe microcephaly v2.83 ANKLE2 Arina Puzriakova Classified gene: ANKLE2 as Amber List (moderate evidence)
Severe microcephaly v2.83 ANKLE2 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber, but there is enough evidence to rate Green at the next GMS panel update (added 'for-review' tag).

At least 5 individuals from 4 unrelated families with primary microcephaly (HC -4.33 to -16.30 SD) and biallelic variants in ANKLE2 (PMIDs: 25259927 and 30214071). Several lines of supporting evidence using Drosophila Ankle2 mutants, including reduced brain size which could be rescued by expression of wildtype human ANKLE2.

This gene-disease association is also listed in OMIM (MIM# 616681).
Severe microcephaly v2.83 ANKLE2 Arina Puzriakova Gene: ankle2 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.19 ANKLE2 Zornitza Stark edited their review of gene: ANKLE2: Changed rating: GREEN
Severe microcephaly v2.19 ANKLE2 Zornitza Stark reviewed gene: ANKLE2: Rating: ; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe microcephaly v1.62 ANKLE2 Louise Daugherty reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 ANKLE2 Louise Daugherty Source NHS GMS was added to ANKLE2.
Severe microcephaly ANKLE2 Alice Gardham marked ANKLE2 as ready
Severe microcephaly ANKLE2 Alice Gardham reviewed ANKLE2