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Severe microcephaly v6.6 ZNF335 Sarah Leigh Tag Q1_24_MOI was removed from gene: ZNF335.
Tag Q1_24_expert_review was removed from gene: ZNF335.
Severe microcephaly v6.6 ZNF335 Eleanor Williams reviewed gene: ZNF335: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v6.5 ZNF335 Sarah Leigh Mode of inheritance for gene ZNF335 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.60 ZNF335 Achchuthan Shanmugasundram Tag Q1_24_MOI tag was added to gene: ZNF335.
Tag Q1_24_expert_review tag was added to gene: ZNF335.
Severe microcephaly v4.60 ZNF335 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Other than the one case that was reported by Chicago lab with ZNF335 heterozygous variant (c.2515_2518dupGCCA/ p.Thr840Serfs) and with microcephaly, encephalopathy and developmental delay, all other cases reported in the literature and ClinVar had biallelic variants in ZNF335. Hence, the MOI should be updated to "BIALLELIC, autosomal or pseudoautosomal" in the next GMS review.
Severe microcephaly v4.60 ZNF335 Achchuthan Shanmugasundram Mode of inheritance for gene: ZNF335 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe microcephaly v4.59 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Changed rating: GREEN
Severe microcephaly v4.59 ZNF335 Achchuthan Shanmugasundram reviewed gene: ZNF335: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v4.53 ZNF335 Dmitrijs Rots reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v2.287 ZNF335 Eleanor Williams Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive, 615095 to Microcephaly 10, primary, autosomal recessive, OMIM:615095
Severe microcephaly v2.286 ZNF335 Eleanor Williams Tag for-review was removed from gene: ZNF335.
Severe microcephaly v2.282 ZNF335 Sarah Leigh commented on gene: ZNF335
Severe microcephaly v2.281 ZNF335 Eleanor Williams Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.36 ZNF335 Arina Puzriakova Publications for gene: ZNF335 were set to 25951892; 25548773; 23178126
Severe microcephaly v2.35 ZNF335 Arina Puzriakova Phenotypes for gene: ZNF335 were changed from Autosomal recessive primary microcephaly (MCPH) ; ?Microcephaly 10, primary, autosomal recessive, 615095 to Microcephaly 10, primary, autosomal recessive, 615095
Severe microcephaly v2.34 ZNF335 Arina Puzriakova Classified gene: ZNF335 as Amber List (moderate evidence)
Severe microcephaly v2.34 ZNF335 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated Green at the next GMS panel update (added 'for-review' tag).
Severe microcephaly v2.34 ZNF335 Arina Puzriakova Gene: znf335 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.33 ZNF335 Arina Puzriakova Tag for-review tag was added to gene: ZNF335.
Severe microcephaly v2.33 ZNF335 Arina Puzriakova reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087, 30500859, 31187448; Phenotypes: Microcephaly 10, primary, autosomal recessive, 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v2.19 ZNF335 Zornitza Stark reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive (MIM#615095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe microcephaly v1.62 ZNF335 Louise Daugherty reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 ZNF335 Louise Daugherty Source NHS GMS was added to ZNF335.
Severe microcephaly ZNF335 Rebecca Foulger classified ZNF335 as amber
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly ZNF335 Rebecca Foulger commented on ZNF335
Severe microcephaly ZNF335 Alice Gardham reviewed ZNF335