| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3481 | ARHGAP19 | Zornitza Stark Marked gene: ARHGAP19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3481 | ARHGAP19 | Zornitza Stark Gene: arhgap19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3481 | ARHGAP19 | Zornitza Stark Classified gene: ARHGAP19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3481 | ARHGAP19 | Zornitza Stark Gene: arhgap19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3476 | ARHGAP19 |
Fahaz Nazer gene: ARHGAP19 was added gene: ARHGAP19 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP19 were set to 41086021 Phenotypes for gene: ARHGAP19 were set to Motor Peripheral Neuropathy; MONDO:0002316; ARHGAP19 related Review for gene: ARHGAP19 was set to GREEN Added comment: Biallelic LOF variants in 25 individuals from 20 unrelated families Phenotype: motor predominant neuropathy 14/23 had assymetric lower limb involvement Biochemical GAP assays show GAP domain variants cause loss of protein function. RNA studies show LOF alters expression of genes linked to 3 cellular pathways, compared to controls. iPSC-derived motor neurons show reduced ARHGAP19 expression Models: Zebrafish, drosophila loss of function models show movement deficits. LOF variants reported in 'GAP' domain and outside this domain with no genotype-phenotype correlation noted Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||