Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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38 actions
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| Skeletal dysplasia v7.23 | DCC | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.23 | DCC | Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v7.22 | DCC |
Achchuthan Shanmugasundram Source Expert Review Green was added to DCC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v5.11 | DCC |
Achchuthan Shanmugasundram changed review comment from: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis. PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with childhood-onset progressive scoliosis. This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel).; to: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis. PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with mild scoliosis at birth, which continued to increase progressively. This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel). |
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| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.10 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.9 | DCC | Achchuthan Shanmugasundram Publications for gene: DCC were set to 28250456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.8 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28250456, 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.16 | PKDCC | Arina Puzriakova Phenotypes for gene: PKDCC were changed from Rhizomelia; dysmorphism to Rhizomelic limb shortening with dysmorphic features, OMIM:618821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.2 | PKDCC | Eleanor Williams Classified gene: PKDCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.2 | PKDCC | Eleanor Williams Gene: pkdcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.11 | PKDCC | Alistair Pagnamenta reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14324; Phenotypes: rhizomelia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | PKDCC | Eleanor Williams Tag for-review was removed from gene: PKDCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | PKDCC | Eleanor Williams commented on gene: PKDCC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | PKDCC |
Eleanor Williams Source Expert Review Green was added to PKDCC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.81 | PKDCC | Ivone Leong commented on gene: PKDCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.81 | PKDCC | Ivone Leong Tag for-review tag was added to gene: PKDCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.80 | PKDCC | Michael Oldridge reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30478137; Phenotypes: rhizomelic limb shortening, facial dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.53 | PKDCC | Eleanor Williams Classified gene: PKDCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.53 | PKDCC | Eleanor Williams Gene: pkdcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.52 | PKDCC | Eleanor Williams reviewed gene: PKDCC: Rating: AMBER; Mode of pathogenicity: None; Publications: 30478137, 19097194; Phenotypes: Rhizomelic limb shortening with dysmorphic features OMIM:618821, rhizomelic limb shortening with dysmorphic features MONDO:0032935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.7 | PKDCC |
Zornitza Stark gene: PKDCC was added gene: PKDCC was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 30478137; 19097194 Phenotypes for gene: PKDCC were set to Rhizomelia; dysmorphism Review for gene: PKDCC was set to AMBER Added comment: Two unrelated consanguineous families reported with different homozygous variants Pre-existing mouse model has similar phenotype Sources: Literature |
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| Skeletal dysplasia v1.331 | SDCCAG8 | Eleanor Williams Classified gene: SDCCAG8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.331 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.330 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.329 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.328 | SDCCAG8 | Eleanor Williams Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | DCC | Eleanor Williams Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 for gene: DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | DCC | Tracy Lester reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | DCC | Eleanor Williams reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | DCC | Eleanor Williams Source NHS GMS was added to DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia | DCC | Sarah Leigh classified DCC as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia | DCC | Sarah Leigh classified DCC as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia | DCC | Sarah Leigh added DCC to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia | DCC | Sarah Leigh reviewed DCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||