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| Arthrogryposis v1.14 | SEC31A | Zornitza Stark Publications for gene: SEC31A were set to 30464055; 40508110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.13 | SEC31A | Zornitza Stark Classified gene: SEC31A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.13 | SEC31A | Zornitza Stark Gene: sec31a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.12 | SEC31A |
Zornitza Stark edited their review of gene: SEC31A: Added comment: PMID 39725565: Reports another individual from unrelated family with a homozygous splice‑acceptor loss‑of‑function variant (c.14351G>A) presenting with lethal neurodevelopmental disorder, dysmorphic facial features, brain anomalies, and severe skeletal defects. RT‑PCR on patient and carrier parents blood samples shows exon 12 skipping and markedly reduced SEC31A transcript, supporting loss‑of‑function. Functional data from PMID 30464055: knockdown SEC31A Drosophila had defective brains and early lethality. In line with SEC31A encoding one of the two coating layers comprising the Coat protein complex II (COP-II) complex, trafficking newly synthesised proteins from the endoplasmic reticulum (ER) to the Golgi, CRISPR/Cas9-mediated SEC31A null mutant cells demonstrated reduced viability through upregulation of ER-stress pathways.; Changed rating: GREEN; Changed publications: 30464055, 40508110, 39725565; Changed phenotypes: Halperin-Birk syndrome, MIM# 618651 |
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| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Marked gene: SEC31A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.671 | SEC31A |
Zornitza Stark gene: SEC31A was added gene: SEC31A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC31A were set to 30464055; 40508110 Phenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# 618651 Review for gene: SEC31A was set to AMBER Added comment: PMID 30464055 reports 2 individuals from 1 family with a homozygous frameshift duplication in SEC31A, and PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant; all present with severe congenital arthrogryposis, spastic quadriplegia, profound developmental delay, epilepsy, microcephaly and brain malformations. Sources: Literature |
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