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| Hirschsprung disease v0.27 | EMB | Zornitza Stark Marked gene: EMB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.27 | EMB | Zornitza Stark Gene: emb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.27 | EMB |
Krithika Murali gene: EMB was added gene: EMB was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: EMB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMB were set to PMID: 40999499 Phenotypes for gene: EMB were set to Hirschsprung disease - MONDO:0018309, EMB-related Review for gene: EMB was set to RED Added comment: Li et al 2025 report enrichment of rare EMB variants in a cohort of patients with Hirschsprung disease. No additional phenotypic or variant information provided. Various in vitro studies and zebrafish/knockout mouse model associate loss of EMB with HSCR phenotype. Sources: Literature |
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| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong changed review comment from: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature; to: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. |
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| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong gene: KIF26A was added gene: KIF26A was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic Added comment: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature |
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