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Severe microcephaly v3.5 NCAPD3 Arina Puzriakova Tag Q2_22_rating was removed from gene: NCAPD3.
Tag Q2_22_NHS_review was removed from gene: NCAPD3.
Severe microcephaly v3.5 NCAPD3 Arina Puzriakova commented on gene: NCAPD3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Severe microcephaly v3.4 NCAPD3 Arina Puzriakova Source Expert Review Green was added to NCAPD3.
Source NHS GMS was added to NCAPD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.299 NCAPD3 Arina Puzriakova edited their review of gene: NCAPD3: Changed rating: GREEN
Severe microcephaly v2.299 NCAPD3 Arina Puzriakova Classified gene: NCAPD3 as Amber List (moderate evidence)
Severe microcephaly v2.299 NCAPD3 Arina Puzriakova Added comment: Comment on list classification: Given the discovery of a third patient in the NHS presenting a phenotype consistent with previous reports and functional studies providing a plausible disease mechanism, this gene should now be promoted to Green at the next GMS panel update to ensure detection of cases.
Severe microcephaly v2.299 NCAPD3 Arina Puzriakova Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.298 NCAPD3 Arina Puzriakova Tag Q2_22_rating tag was added to gene: NCAPD3.
Tag Q2_22_NHS_review tag was added to gene: NCAPD3.
Severe microcephaly v2.298 NCAPD3 Arina Puzriakova Phenotypes for gene: NCAPD3 were changed from Microcephaly 22, primary, autosomal recessive, 617984 to Microcephaly 22, primary, autosomal recessive, OMIM:617984
Severe microcephaly v2.277 NCAPD3 Ronnie Wright reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v2.15 NCAPD3 Arina Puzriakova Classified gene: NCAPD3 as Amber List (moderate evidence)
Severe microcephaly v2.15 NCAPD3 Arina Puzriakova Added comment: Comment on list classification: Additional cases, as well as a more significant pattern of microcephaly, are required before inclusion of NCAPD3 on a diagnostic panel.
Severe microcephaly v2.15 NCAPD3 Arina Puzriakova Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.14 NCAPD3 Arina Puzriakova gene: NCAPD3 was added
gene: NCAPD3 was added to Severe microcephaly. Sources: Literature
Mode of inheritance for gene: NCAPD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD3 were set to 27737959
Phenotypes for gene: NCAPD3 were set to Microcephaly 22, primary, autosomal recessive, 617984
Review for gene: NCAPD3 was set to AMBER
Added comment: Associated with Microcephaly 22 in OMIM and a possible gene for Microcephaly with short stature in G2P.

PMID: 27737959 (2016) - Two unrelated cases. Compound heterozygous variants ([c.1783_1784delG, p.Val595Serfs*34];[c.382+14A>G, p.Ser129Metfs*1]) were detected in a 6-years-5-month-old male with microcephaly (OFC -5.4 SD). The second patient (aged 6-years-11-months-old) was less severely microcephalic (OFC -2.7 SD) but additionally had moderate developmental delay, seizures and lower limb hypertonia, and also harboured a homozygous missense variant in NCAPD3 (c.3458T>G, p.Glu1153Ala).

Functional studies indicated that both variants disrupted condensin-dependent mitotic chromosome integrity, providing supporting evidence for pathogenicity. Biallelic variants in other genes encoding subunits of the two condensin complexes result in a similar phenotype.
Sources: Literature