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Severe microcephaly v9.43 CEP63 Ida Ertmanska Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly to ?Seckel syndrome 6 , OMIM:614728; Seckel syndrome 6, MONDO:0013871; SCKL6
Severe microcephaly v9.42 CEP63 Ida Ertmanska Classified gene: CEP63 as Amber List (moderate evidence)
Severe microcephaly v9.42 CEP63 Ida Ertmanska Gene: cep63 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v9.41 CEP63 Ida Ertmanska Tag Q4_26_promote_green tag was added to gene: CEP63.
Severe microcephaly v9.41 CEP63 Ida Ertmanska commented on gene: CEP63: Comment on list classification: There are now 2 unrelated families reported with biallelic nonsense CEP63 variants and Seckel syndrome, including severe microcephaly. This gene-disease association is supported by mouse studies, where CEP63 deficiency results in microcephaly. Hence, this gene can be promoted to Green at the next update.
Severe microcephaly v9.41 CEP63 Ida Ertmanska edited their review of gene: CEP63: Changed publications to: 21983783, 26158450, 34068194, 37017437
Severe microcephaly v9.41 CEP63 Ida Ertmanska changed review comment from: PMID: 37017437 Pacheco et al., 2023
Report of a family with three siblings who are comp het for variants in CEP63, c.1125T>G, p.(Tyr375*) and c.595del, p.(Glu199Asnfs*11). Parents confirmed het for a variant each, unaffected. All siblings present with microcephaly and intellectual disability but only one has severe short stature. Head circumference at birth was -3.7 to -4.7 SD below mean for all 3 sibs. Seckel syndrome diagnosis.

PMID: 34068194 Makhdoom et al., 2021
Family 2 - consanguineous family with five affected members manifesting microcephaly of −11 to −15 SD and moderate ID. Affected individuals were homozygous for p.(Ser240Cysfs*16), in ASPM, and heterozygous for a c.1261A>T;p.(Thr421Ser) variant in CEP63.
An asymptomatic brother was het for both the ASPM variant and the CEP63 variant.
Authors pose that a heterozygous CEP63 variant aggravated the microcephaly and short stature severity phenotypes, caused by a biallelic ASPM mutation. ASPM is associated with Microcephaly 5, primary, autosomal recessive, OMIM:608716.

PMID: 21983783 Sir et al., 2011
First family described. Consanguineous Pakistani parents. Three family members had primary microcephaly at birth (head circumference −4SD to −6SD) and by five years showed mild/moderate mental retardation. To a lesser degree, they had proportionate short stature. "Mild Seckel syndrome" diagnosis. The affected individuals were homozygous for CEP63:c.129G>A, p.Trp43*. Functional studies detected some CEP63 protein in centrosomes of patient cells, implying the variant is hypomorphic.; to: PMID: 37017437 Pacheco et al., 2023
Report of a family with three siblings who are comp het for variants in CEP63, c.1125T>G, p.(Tyr375*) and c.595del, p.(Glu199Asnfs*11). Parents confirmed het for a variant each, unaffected. All siblings present with microcephaly and intellectual disability but only one has severe short stature. Head circumference at birth was -3.7 to -4.7 SD below mean for all 3 sibs. Seckel syndrome diagnosis.

PMID: 34068194 Makhdoom et al., 2021
Family 2 - consanguineous family with five affected members manifesting microcephaly of −11 to −15 SD and moderate ID. Affected individuals were homozygous for p.(Ser240Cysfs*16), in ASPM, and heterozygous for a c.1261A>T;p.(Thr421Ser) variant in CEP63.
An asymptomatic brother was het for both the ASPM variant and the CEP63 variant.
Authors pose that a heterozygous CEP63 variant aggravated the microcephaly and short stature severity phenotypes, caused by a biallelic ASPM mutation. ASPM is associated with Microcephaly 5, primary, autosomal recessive, OMIM:608716.

PMID: 21983783 Sir et al., 2011
First family described. Consanguineous Pakistani parents. Three family members had primary microcephaly at birth (head circumference −4SD to −6SD) and by five years showed mild/moderate mental retardation. To a lesser degree, they had proportionate short stature. "Mild Seckel syndrome" diagnosis. The affected individuals were homozygous for CEP63:c.129G>A, p.Trp43*. Functional studies detected some CEP63 protein in centrosomes of patient cells, implying the variant is hypomorphic.

Functional evidence: PMID: 26158450 - Marjanović et al., 2015 - CEP63 deficiency promotes p53-dependent microcephaly in mice - recapitulating Seckel syndrome seen in humans.
Severe microcephaly v9.41 CEP63 Ida Ertmanska Publications for gene: CEP63 were set to 21983783; 26158450
Severe microcephaly v9.40 CEP63 Ida Ertmanska edited their review of gene: CEP63: Changed publications to: 21983783, 34068194, 37017437
Severe microcephaly v9.40 CEP63 Ida Ertmanska reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: None; Publications: 34068194, 37017437; Phenotypes: ?Seckel syndrome 6 , OMIM:614728, Seckel syndrome 6, MONDO:0013871, SCKL6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v2.293 CEP63 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CEP63.
Severe microcephaly v2.293 CEP63 Eleanor Williams Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, 614728; Microcephaly to MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly
Severe microcephaly v2.292 CEP63 Sarah Leigh commented on gene: CEP63
Severe microcephaly v2.291 CEP63 Eleanor Williams Source Expert Review Red was added to CEP63.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Severe microcephaly v2.128 CEP63 Ivone Leong commented on gene: CEP63
Severe microcephaly v2.128 CEP63 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CEP63.
Severe microcephaly v2.20 CEP63 Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v1.62 CEP63 Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 CEP63 Louise Daugherty Source NHS GMS was added to CEP63.
Severe microcephaly CEP63 Alice Gardham classified CEP63 as green
Severe microcephaly CEP63 Alice Gardham reviewed CEP63