Activity
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6 actions
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| Non-syndromic familial congenital anorectal malformations v1.13 | LINC01082 | Achchuthan Shanmugasundram Classified gene: LINC01082 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v1.13 | LINC01082 | Achchuthan Shanmugasundram Gene: linc01082 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v1.12 | LINC01082 | Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v1.9 | LINC01082 | Ida Ertmanska reviewed gene: LINC01082: Rating: RED; Mode of pathogenicity: None; Publications: 27071622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic familial congenital anorectal malformations v1.9 | LINC01082 |
Hannah Robinson gene: LINC01082 was added gene: LINC01082 was added to Non-syndromic familial congenital anorectal malformations. Sources: NHS GMS Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01082 were set to Complete Review for gene: LINC01082 was set to GREEN gene: LINC01082 was marked as current diagnostic Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele. Sources: NHS GMS |
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| Non-syndromic familial congenital anorectal malformations v1.9 | LINC01081 |
Hannah Robinson gene: LINC01081 was added gene: LINC01081 was added to Non-syndromic familial congenital anorectal malformations. Sources: NHS GMS Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01081 were set to Complete Review for gene: LINC01081 was set to GREEN gene: LINC01081 was marked as current diagnostic Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele. Sources: NHS GMS |
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