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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. |
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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) |
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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. |
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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 |