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| Skeletal ciliopathies v3.11 | INTU | Eleanor Williams Tag Q2_23_promote_green was removed from gene: INTU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.11 | INTU | Eleanor Williams reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.10 | INTU |
Eleanor Williams Source Expert Review Green was added to INTU. Source NHS GMS was added to INTU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review.; to: Comment on list classification: As reviewed by Zornitza Stark, there are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: INTU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS update.; to: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram Classified gene: INTU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and supporting functional evidence from mouse model to support the promotion of this gene to GREEN rating at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | INTU | Achchuthan Shanmugasundram Gene: intu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.8 | INTU | Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.8 | INTU | Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.8 | INTU | Achchuthan Shanmugasundram Phenotypes for gene: INTU were changed from Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 to ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925; ?Orofaciodigital syndrome XVII, OMIM:617926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.7 | INTU | Achchuthan Shanmugasundram Publications for gene: INTU were set to 27158779; 29451301; 20067783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.6 | INTU | Achchuthan Shanmugasundram reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 20067783, 27158779, 29451301; Phenotypes: ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925, ?Orofaciodigital syndrome XVII, OMIM:617926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.10 | INTU |
Zornitza Stark gene: INTU was added gene: INTU was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 27158779; 29451301; 20067783 Phenotypes for gene: INTU were set to Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925 Review for gene: INTU was set to GREEN Added comment: Three families and a mouse model: PMID: 27158779 - 1 hom (PTC) and 1 compound het (PTC/missense) patients with OFD or Short-rib thoracic dysplasia PMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system PMID: 29451301 - 1 compound het patient (missense/CNV) with OFD and polydactyly Sources: Literature |
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