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| Mendeliome v1.3367 | PCDHA9 | Bryony Thompson Marked gene: PCDHA9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3367 | PCDHA9 | Bryony Thompson Gene: pcdha9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3367 | PCDHA9 |
Bryony Thompson gene: PCDHA9 was added gene: PCDHA9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PCDHA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCDHA9 were set to 29477871; 40988636 Phenotypes for gene: PCDHA9 were set to Hirschsprung disease MONDO:0018309; root resorption MONDO:0001997 Review for gene: PCDHA9 was set to RED Added comment: Single publication reporting an association with Hirschsprung disease, including a missense in a family (p.Gly572Arg) that is too common in gnomAD to be associated with disease and 2 rare missense in 2 sporadic cases. Knockdown in a cell line increased proliferation and migration, but suppressed apoptosis. A single publication with a single missense reported in association with short root anomaly. Sources: Literature |
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| Mendeliome v1.3325 | PCDHA13 |
Chirag Patel gene: PCDHA13 was added gene: PCDHA13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PCDHA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCDHA13 were set to 40988636 Phenotypes for gene: PCDHA13 were set to Hypoplastic left heart syndrome, MONDO:0004933 Review for gene: PCDHA13 was set to RED Added comment: WES in 68 subjects with HLHS identified 1 individual with co-occurrence (i.e. digenic) of a SAP130 gene variant (p. S639G) and PCDHA13 gene variant (p. A22V). GnomAD frequencies for variants are: 0.00003% (PCDHA13 variant) and 0.01% with numerous homozygotes (SAP130 variant). The PCDHA13 variant is situated in a region highly conserved across the PCDHA gene family (which is highly homologous), especially PCDHA10 which is the ortholog of mouse Pcdha9. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, and Pcdha9 increases penetrance of aortic valve abnormalities. Mutations in Sap130 and Pcdha9 were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. Sources: Literature |
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