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| Skeletal dysplasia v1.143 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.143 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.143 | INTS13 | Zornitza Stark Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.143 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.142 | INTS13 |
Zornitza Stark changed review comment from: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature. Sources: Literature; to: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature. INTS13 is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. |
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| Skeletal dysplasia v1.142 | INTS13 |
Zornitza Stark gene: INTS13 was added gene: INTS13 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to 36229431 Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375, INTS13-related Review for gene: INTS13 was set to GREEN Added comment: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature. Sources: Literature |
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