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Severe microcephaly v2.293 WDR4 Eleanor Williams Tag Q2_21_rating was removed from gene: WDR4.
Severe microcephaly v2.292 WDR4 Sarah Leigh commented on gene: WDR4
Severe microcephaly v2.291 WDR4 Eleanor Williams Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.118 WDR4 Ivone Leong reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v2.118 WDR4 Ivone Leong Tag Q2_21_rating tag was added to gene: WDR4.
Severe microcephaly v2.118 WDR4 Ivone Leong Publications for gene: WDR4 were set to 26416026; 29597095; 30079490; 29597095
Severe microcephaly v2.117 WDR4 Ivone Leong Publications for gene: WDR4 were set to 26416026; 29597095
Severe microcephaly v2.116 WDR4 Ivone Leong Phenotypes for gene: WDR4 were changed from MPD; microcephalic primordial dwarfism to Galloway-Mowat syndrome 6, OMIM:61834; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347
Severe microcephaly v2.19 WDR4 Zornitza Stark reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26416026, 28617965, 30079490, 29597095; Phenotypes: Galloway-Mowat syndrome 6 MIM#618347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe microcephaly v1.62 WDR4 Louise Daugherty edited their review of gene: WDR4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Severe microcephaly v1.61 WDR4 Louise Daugherty Source NHS GMS was added to WDR4.
Severe microcephaly WDR4 Louise Daugherty classified WDR4 as Amber List (moderate evidence)
Severe microcephaly WDR4 Ellen McDonagh edited their review of WDR4
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4
Severe microcephaly WDR4 Rebecca Foulger commented on WDR4