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Severe microcephaly v9.26 CDK6 Ida Ertmanska Tag watchlist tag was added to gene: CDK6.
Severe microcephaly v9.26 CDK6 Ida Ertmanska Publications for gene: CDK6 were set to 25951892; 25548773; 23918663
Severe microcephaly v9.25 CDK6 Ida Ertmanska Phenotypes for gene: CDK6 were changed from Autosomal recessive primary microcephaly (MCPH) ; ?Microcephaly 12, primary, autosomal recessive, 616080 to ?Microcephaly 12, primary, autosomal recessive, OMIM:616080; microcephaly 12, primary, autosomal recessive, MONDO:0014484
Severe microcephaly v9.24 CDK6 Ida Ertmanska Classified gene: CDK6 as Amber List (moderate evidence)
Severe microcephaly v9.24 CDK6 Ida Ertmanska Added comment: Comment on list classification: There are now 2 unrelated probands reported in literature with biallelic CDK6 variants and severe microcephaly (more than 3SD below average). Hence, this gene can be rated Amber with current evidence. A 'watchlist' tag was added in anticipation of further reports.
Severe microcephaly v9.24 CDK6 Ida Ertmanska Gene: cdk6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v9.23 CDK6 Ida Ertmanska edited their review of gene: CDK6: Changed publications to: 23918663, 41856556
Severe microcephaly v9.23 CDK6 Ida Ertmanska changed review comment from: PMID: 41856556 Isik et al., 2026
Report of a female child (Case 3, 7.5 yrs old) homozygous for a CDK6 missense variant NM_001145306: c.461C>T, (p.Thr154Ile) with microcephaly, brain atrophy, neutropenia and ovarian failure. Variant not present in gnomAD v4.1.1. Seq method: WES, parents confirmed carriers by Sanger seq. Parents are consanguineous.
Microcephaly was severe, with head circumference (HC) of 41 cm/−7.3 SD for age. HC at birth was 30 cm/−2.48 SD. In addition, she had moderate intellectual disability, dysmorphic facial features, and cerebral atrophy and hypomyelination on MRI.; to: PMID: 41856556 Isik et al., 2026
Report of a female child (Case 3, 7.5 yrs old) homozygous for a CDK6 missense variant NM_001145306: c.461C>T, (p.Thr154Ile) with microcephaly, brain atrophy, neutropenia and ovarian failure. Variant not present in gnomAD v4.1.1. Seq method: WES, parents confirmed carriers by Sanger seq. Parents are consanguineous.
Microcephaly was severe, with head circumference (HC) of 41 cm/−7.3 SD for age. HC at birth was 30 cm/−2.48 SD. In addition, she had moderate intellectual disability, dysmorphic facial features, and cerebral atrophy and hypomyelination on MRI.

Individuals in PMID:23918663 (see review by Rebecca Foulger) had severe microcephaly of -4 SD and -6SD.
Severe microcephaly v9.23 CDK6 Ida Ertmanska changed review comment from: PMID: 41856556 Isik et al., 2026
Report of a female child (Case 3) homozygous for a CDK6 missense variant NM_001145306: c.461C>T, (p.Thr154Ile) with microcephaly, brain atrophy, neutropenia and ovarian failure. Variant not present in gnomAD v4.1.1. Seq method: WES, parents confirmed carriers by Sanger seq.
Microcephaly was severe, with head circumference (HC) of 41 cm/−7.3 SD for age. HC at birth was 30 cm/−2.48 SD. In addition, she had moderate intellectual disability, dysmorphic facial features, and cerebral atrophy and hypomyelination on MRI.; to: PMID: 41856556 Isik et al., 2026
Report of a female child (Case 3, 7.5 yrs old) homozygous for a CDK6 missense variant NM_001145306: c.461C>T, (p.Thr154Ile) with microcephaly, brain atrophy, neutropenia and ovarian failure. Variant not present in gnomAD v4.1.1. Seq method: WES, parents confirmed carriers by Sanger seq. Parents are consanguineous.
Microcephaly was severe, with head circumference (HC) of 41 cm/−7.3 SD for age. HC at birth was 30 cm/−2.48 SD. In addition, she had moderate intellectual disability, dysmorphic facial features, and cerebral atrophy and hypomyelination on MRI.
Severe microcephaly v9.23 CDK6 Ida Ertmanska reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 41856556; Phenotypes: ?Microcephaly 12, primary, autosomal recessive, OMIM:616080, microcephaly 12, primary, autosomal recessive, MONDO:0014484; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v1.62 CDK6 Louise Daugherty reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 CDK6 Louise Daugherty Source NHS GMS was added to CDK6.
Severe microcephaly CDK6 Rebecca Foulger commented on CDK6