Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Limb disorders v4.18 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome, 218600 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.17 | PIK3R2 | Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387; Polydactyly to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.16 | EFNB1 | Arina Puzriakova Phenotypes for gene: EFNB1 were changed from Craniofrontonasal syndrome, 304110 to Craniofrontonasal dysplasia, OMIM:304110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.15 | DYNC2H1 | Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly 613091; Polydactyly to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.14 | FBXW11 | Sarah Leigh Entity copied from Skeletal dysplasia v4.35 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.14 | FBXW11 |
Sarah Leigh gene: FBXW11 was added gene: FBXW11 was added to Limb disorders. Sources: Literature,Expert Review Amber Q4_21_NHS_review, Q4_23_promote_green tags were added to gene: FBXW11. Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 Penetrance for gene: FBXW11 were set to unknown |
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Limb disorders v4.11 | CDX2 | Eleanor Williams Tag gene-checked tag was added to gene: CDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | CDX2 | Eleanor Williams commented on gene: CDX2: This gene has no phenotype in OMIM so checked that the publication PMID: 34671974 mentions the same gene name. It does. Adding the gene-checked tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | PRKACA | Eleanor Williams Tag Q2_23_promote_green was removed from gene: PRKACA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | GNAS | Eleanor Williams Tag Q4_22_MOI was removed from gene: GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | CDX2 | Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | PRKACA | Eleanor Williams reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | GNAS | Eleanor Williams reviewed gene: GNAS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.11 | CDX2 | Eleanor Williams reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.10 | PRKACA |
Eleanor Williams Source NHS GMS was added to PRKACA. Source Expert Review Green was added to PRKACA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v4.10 | GNAS |
Eleanor Williams Source NHS GMS was added to GNAS. Mode of inheritance for gene GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Limb disorders v4.10 | CDX2 |
Eleanor Williams Source NHS GMS was added to CDX2. Source Expert Review Green was added to CDX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v4.9 | TP63 | Arina Puzriakova Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543; Split-hand/foot malformation 4, OMIM:605289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.8 | TP63 | Arina Puzriakova Phenotypes for gene: TP63 were changed from ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; Limb-mammary syndrome 603543; Orofacial cleft 8 129400; Rapp-Hodgkin syndrome 129400; Split-hand/foot malformation 4 605289 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova changed review comment from: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate this gene as Green at the next GMS panel update.; to: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Tag Q3_23_promote_green tag was added to Region: ISCA-37467-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Classified Region: ISCA-37467-Gain as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Added comment: Comment on list classification: Adding to this panel under the suggestion of Helen Brittain (Genomics England Clinical Team) as this region is associated with limb malformation phenotypes. Enough evidence to rate this gene as Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.7 | ISCA-37467-Gain | Arina Puzriakova Region: isca-37467-gain has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.6 | ISCA-37467-Gain | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.6 | ISCA-37467-Gain | Arina Puzriakova Entity copied from Clefting v4.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.6 | ISCA-37467-Gain |
Arina Puzriakova Region: ISCA-37467-Gain was added Region: ISCA-37467-Gain was added to Limb disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37467-Gain were set to 19291772; 18417549; 18178630 Phenotypes for Region: ISCA-37467-Gain were set to human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype; 174500; Triphalangeal thumbpolysyndactyly syndrome; syndactyly type IV with tibial hypoplasia |
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Limb disorders v4.5 | PRKACA | Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.5 | PRKACA |
Arina Puzriakova gene: PRKACA was added gene: PRKACA was added to Limb disorders. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACA. Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 33058759; 31130284 Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142 |
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Limb disorders v4.4 | PRKACB | Arina Puzriakova Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, OMIM:619143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.3 | CDX2 | Arina Puzriakova Entity copied from Fetal anomalies v3.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.3 | CDX2 |
Arina Puzriakova gene: CDX2 was added gene: CDX2 was added to Limb disorders. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: CDX2. Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to 29177441; 32058622; 34671974 Phenotypes for gene: CDX2 were set to Multiple congenital anomalies Penetrance for gene: CDX2 were set to unknown |
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Limb disorders v4.2 | MECOM | Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.1 | Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v4.0 | Arina Puzriakova promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | HMGB1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HMGB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | DVL2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DVL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | UBA2 | Eleanor Williams Tag Q4_21_rating was removed from gene: UBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | SCUBE3 | Eleanor Williams Tag Q4_21_rating was removed from gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | RAD51 | Eleanor Williams Tag Q4_21_rating was removed from gene: RAD51. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | LTBP1 | Eleanor Williams Tag Q3_21_rating was removed from gene: LTBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | KCNN3 | Eleanor Williams Tag Q2_21_rating was removed from gene: KCNN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | DLX5 | Eleanor Williams Tag Q3_21_MOI was removed from gene: DLX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | DLX5 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | DLX5 | Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | HEATR3 |
Eleanor Williams Tag Q3_22_rating was removed from gene: HEATR3. Tag Q3_22_MOI was removed from gene: HEATR3. |
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Limb disorders v3.6 | UBA2 | Eleanor Williams commented on gene: UBA2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | SCUBE3 | Eleanor Williams edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | RAD51 | Eleanor Williams reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | LTBP1 | Eleanor Williams commented on gene: LTBP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | KCNN3 | Eleanor Williams reviewed gene: KCNN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | DLX5 | Eleanor Williams commented on gene: DLX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.6 | HEATR3 | Eleanor Williams reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.5 | UBA2 |
Eleanor Williams Source Expert Review Green was added to UBA2. Source NHS GMS was added to UBA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | SCUBE3 |
Eleanor Williams Source Expert Review Green was added to SCUBE3. Source NHS GMS was added to SCUBE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | RAD51 |
Eleanor Williams Source Expert Review Green was added to RAD51. Source NHS GMS was added to RAD51. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | LTBP1 |
Eleanor Williams Source Expert Review Green was added to LTBP1. Source NHS GMS was added to LTBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | KCNN3 |
Eleanor Williams Source Expert Review Green was added to KCNN3. Source NHS GMS was added to KCNN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | HEATR3 |
Eleanor Williams Source Expert Review Green was added to HEATR3. Source NHS GMS was added to HEATR3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v3.5 | DLX5 |
Eleanor Williams Source NHS GMS was added to DLX5. Mode of inheritance for gene DLX5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Limb disorders v3.4 | SUFU | Arina Puzriakova Classified gene: SUFU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.4 | SUFU | Arina Puzriakova Added comment: Comment on list classification: Recessive phenotype fits the scope of this panel; however only two cases have been reported to date in a single paper. Monoallelic form does not appear to feature skeletal abnormalities but rather is dominated by neurological phenotypes. Therefore maintaining Amber rating and biallelic MOI on this panel but adding a watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.4 | SUFU | Arina Puzriakova Gene: sufu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.3 | SUFU | Arina Puzriakova Tag watchlist tag was added to gene: SUFU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.3 | SUFU | Arina Puzriakova reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: 21289193, 28965847, 33024317, 34675124; Phenotypes: Joubert syndrome 32, OMIM:617757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.3 | SHOX | Arina Puzriakova Phenotypes for gene: SHOX were changed from Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.2 | SHOX | Arina Puzriakova Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.1 | Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v3.0 | Achchuthan Shanmugasundram promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.84 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert syndrome 32, OMIM:617757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.83 | GNAS |
Sarah Leigh Tag mosaicism tag was added to gene: GNAS. Tag Q4_22_MOI tag was added to gene: GNAS. |
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Limb disorders v2.83 | GNAS | Sarah Leigh edited their review of gene: GNAS: Added comment: Disease causing variants in the GNAS locus have differing expression panels. Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal alleles, therefore, the mode of inheritance (MOI) for GNAS in these conditions should be monoallelic maternally imprinted. Pseudopseudohypoparathyroidism, OMIM:612463 and Osseous heteroplasia, progressive, OMIM:166350 are associated with variants in the paternal alleles therefore, the mode of inheritance for GNAS in these conditions should be monoallelic paternally imprinted. Because the Limb disorders panel is encompassing various phenotypes, the MOI should been set to monoallelic, imprinted status unknown.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.83 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from ACTH-independent macronodular adrenal hyperplasia 219080 IC; McCune-Albright syndrome, somatic, mosaic 174800; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.82 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.81 | HEATR3 | Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.; to: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35213692 reports five HEATR3 variants in four unrelated cases who all displayed anaemia reminiscent of Diamond-Blackfan anemia, together with bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. HEATR3 has been rated as Green as the affected members of 3/4 families identified had brachydactyly and other features of hands and/or feet. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.81 | HEATR3 | Sarah Leigh Classified gene: HEATR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.81 | HEATR3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.81 | HEATR3 | Sarah Leigh Gene: heatr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.80 | HEATR3 | Sarah Leigh Entity copied from Rare anaemia v1.42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.80 | HEATR3 |
Sarah Leigh gene: HEATR3 was added gene: HEATR3 was added to Limb disorders. Sources: Literature,Expert Review Amber Q3_22_rating, Q3_22_MOI tags were added to gene: HEATR3. Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR3 were set to 35213692 Phenotypes for gene: HEATR3 were set to Anemia; Thrombocytopenia; Growth delay; Short stature; Abnormality of the skeletal system; Abnormality of finger; Abnormality of the thumb; Intellectual disability; Obesity; Abnormality of the face Penetrance for gene: HEATR3 were set to Complete |
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Limb disorders v2.79 | LRP4 | Arina Puzriakova commented on gene: LRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.79 | LMBR1 | Arina Puzriakova commented on gene: LMBR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.78 | C8orf37 | Arina Puzriakova commented on gene: C8orf37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.78 | C8orf37 | Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.78 | TXNDC15 | Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.78 | IHH | Arina Puzriakova Phenotypes for gene: IHH were changed from Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis; F syndrome to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.77 | BMP2 | Eleanor Williams commented on gene: BMP2: There is currently no ClinGen curated CNV covering this region on chromosome 20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.77 | BRIP1 | Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Radial Ray abnormality; Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054; Radial ray abnormality | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.76 | BRCA2 | Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; Radial Ray abnormality to Fanconi anemia, complementation group D1, OMIM:605724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.75 | ISCA-37394-Loss | Ivone Leong commented on Region: ISCA-37394-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.75 | ISCA-37394-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.74 | LRP4 | Eleanor Williams commented on gene: LRP4: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.74 | LMBR1 | Eleanor Williams commented on gene: LMBR1: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.73 | LRP4 | Eleanor Williams Mode of inheritance for gene LRP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.73 | LMBR1 | Eleanor Williams Mode of inheritance for gene LMBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.72 | LRP4 | Eleanor Williams Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly to Cenani-Lenz syndactyly syndrome, OMIM:212780; CLSS; Cenani syndactyly; Cenani-Lenz syndactyly; Syndactyly type 7; Polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.71 | MECOM |
Eleanor Williams Tag Q3_21_rating was removed from gene: MECOM. Tag Q3_21_NHS_review was removed from gene: MECOM. |
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Limb disorders v2.71 | MECOM | Eleanor Williams commented on gene: MECOM: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.70 | MECOM |
Eleanor Williams Source Expert Review Green was added to MECOM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.69 | SMO | Eleanor Williams Tag for-review was removed from gene: SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.69 | PRKACB | Eleanor Williams Tag for-review was removed from gene: PRKACB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.69 | KIAA0825 | Eleanor Williams Tag for-review was removed from gene: KIAA0825. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.69 | IQCE | Eleanor Williams Tag for-review was removed from gene: IQCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.69 | CEP55 | Eleanor Williams Tag for-review was removed from gene: CEP55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.69 | KYNU | Eleanor Williams Phenotypes for gene: KYNU were changed from Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism to Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661; hand hyperphalangism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.68 | KYNU | Eleanor Williams Tag for-review was removed from gene: KYNU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.68 | IFT27 | Eleanor Williams Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996; Polydactyly to Bardet-Biedl syndrome 19, OMIM:615996; Polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | IFT27 | Eleanor Williams Tag for-review was removed from gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | TRAF7 | Eleanor Williams Tag for-review was removed from gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | SMO | Eleanor Williams commented on gene: SMO: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | PRKACB | Eleanor Williams commented on gene: PRKACB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | KIAA0825 | Eleanor Williams commented on gene: KIAA0825: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | IQCE | Eleanor Williams commented on gene: IQCE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | CEP55 | Eleanor Williams commented on gene: CEP55 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | KYNU | Eleanor Williams commented on gene: KYNU: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | IFT27 | Eleanor Williams commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.67 | TRAF7 | Eleanor Williams commented on gene: TRAF7: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. The reviewers note that the penetrance of limb defects seems low and dev delay main feature - gene is already green on R29 (Intellectual disability) and R27 (Paediatric disorders) panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.66 | SMO |
Eleanor Williams Source Expert list was added to SMO. Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Limb disorders v2.66 | PRKACB |
Eleanor Williams Source Expert Review Green was added to PRKACB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.66 | KIAA0825 |
Eleanor Williams Source Expert Review Green was added to KIAA0825. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.66 | IQCE |
Eleanor Williams Source Expert Review Green was added to IQCE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.66 | CEP55 |
Eleanor Williams Source Expert Review Green was added to CEP55. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.66 | KYNU |
Eleanor Williams Source Expert Review Green was added to KYNU. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.66 | IFT27 |
Eleanor Williams Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v2.65 | BMP2 | Jenny Simmonds reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 21357617, 29129813, 24710560, 19327734); Phenotypes: Brachydactyly, type A2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.65 | SHOX | Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.65 | SCUBE3 | Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.64 | SCUBE3 | Sarah Leigh Tag Q4_21_rating tag was added to gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.64 | SCUBE3 | Sarah Leigh Tag Q2_21_rating was removed from gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.64 | SCUBE3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Brachydactyly was evident in 12/15 cases examined. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.64 | SCUBE3 | Sarah Leigh Entity copied from Skeletal dysplasia v2.136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.64 | SCUBE3 |
Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Limb disorders. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown |
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Limb disorders v2.63 | RAD51 | Arina Puzriakova Classified gene: RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.63 | RAD51 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with relevant phenotype and different de novo variants. Phenotype-gene relationship listed in OMIM (MIM# 617244). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.63 | RAD51 | Arina Puzriakova Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.62 | RAD51 |
Arina Puzriakova gene: RAD51 was added gene: RAD51 was added to Limb disorders. Sources: Literature Q4_21_rating tags were added to gene: RAD51. Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 26681308; 26253028; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244 Review for gene: RAD51 was set to GREEN Added comment: Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with an atypical FA phonotype involving chromosomal instability without bone marrow failure or malignancies along with private heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene. Variants occurred de novo with a dominant negative effect. All three individuals presented with thumb and radial abnormalities, microcephaly, and DD/ID (third patient showed early DD but above average IQ by age 13); and two individuals also had growth retardation (probable in third case but not reported on) and hearing impairment. Sources: Literature |
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Limb disorders v2.61 | BMP2 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.61 | BMP2 | Eleanor Williams Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.60 | UBA2 | Eleanor Williams Classified gene: UBA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.60 | UBA2 | Eleanor Williams Added comment: Comment on list classification: Leaving rating as amber for now, but with a recommendation for green rating following GMS review. There are now 5 cases reported with split hand malformation and plausible disease causing variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.60 | UBA2 | Eleanor Williams Gene: uba2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.59 | UBA2 | Eleanor Williams Publications for gene: UBA2 were set to 31332306; 24243649; 29988626; 31587267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.58 | UBA2 | Eleanor Williams Tag Q4_21_rating tag was added to gene: UBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.58 | UBA2 | Eleanor Williams edited their review of gene: UBA2: Added comment: As reviewer notes, in PMID: 34159400 (Elsner et al 2021) they report 3 unrelated cases where a variant in UBA2 are reported in individuals with split hand malformation.; Changed rating: GREEN; Changed publications to: 31332306, 24243649, 29988626, 31587267, 34159400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.58 | HMGB1 | Eleanor Williams Classified gene: HMGB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.58 | HMGB1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red based on 1 case, plus some supportive animal model data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.58 | HMGB1 | Eleanor Williams Gene: hmgb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.57 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia 164200; Oculodentodigital dysplasia, autosomal recessive 257850; Palmoplantar keratoderma with congenital alopecia 104100; Syndactyly, type III 186100 to Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400; Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850; Syndactyly, type III, OMIM:186100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.56 | MECOM | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MECOM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.56 | HOXA11 | Eleanor Williams Classified gene: HOXA11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.56 | HOXA11 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as red as there are only 2 cases reported, each with the same variant, and only 2 genes were looked at in the analyses of these patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.56 | HOXA11 | Eleanor Williams Gene: hoxa11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.55 | HOXA11 |
Eleanor Williams gene: HOXA11 was added gene: HOXA11 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HOXA11 were set to 11101832 Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432; radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558 Review for gene: HOXA11 was set to AMBER Added comment: Associated with Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 #605432 (AD) in OMIM. 2 unrelated cases reported in PMID: 11101832 - Thompson and Nguyen 2000. In both families the fathers and all affected children show proximal fusion of the radius and ulna. 3 out of the 4 children, but not the fathers had symptomatic thrombocytopenia. Only the HOXA10 and HOXA11 genes were analysed. The same single base-pair deletion in a highly conserved region encoding the homeodomain was found in HOXA11 in affected individuals. A PubMed search does not find any further reported cases. Sources: Literature |
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Limb disorders v2.54 | MECOM | Eleanor Williams Classified gene: MECOM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.54 | MECOM | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for green rating following GMS review. There are sufficient cases with a radioulnar synostosis phenotype to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.54 | MECOM | Eleanor Williams Gene: mecom has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.53 | MECOM | Eleanor Williams Phenotypes for gene: MECOM were changed from Radioulnar synostosis; Brachymesophalangia to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.52 | MECOM | Eleanor Williams Publications for gene: MECOM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.51 | MECOM | Eleanor Williams Tag Q3_21_rating tag was added to gene: MECOM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.51 | MECOM | Eleanor Williams reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581901, 29200407, 30536840; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.51 | FIG4 | Sarah Leigh commented on gene: FIG4: Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panel, so bialellic mode of inheritance is appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.51 | FIG4 | Sarah Leigh Phenotypes for gene: FIG4 were changed from Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.50 | DLX5 | Ivone Leong Phenotypes for gene: DLX5 were changed from Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 to ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600; Split-hand/foot malformation 1, OMIM:183600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.49 | DLX5 | Ivone Leong Tag Q3_21_MOI tag was added to gene: DLX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.49 | DLX5 | Ivone Leong reviewed gene: DLX5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.49 | HMGB1 |
Zornitza Stark gene: HMGB1 was added gene: HMGB1 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34159400 Phenotypes for gene: HMGB1 were set to Mirror image foot polydactyly Review for gene: HMGB1 was set to RED Added comment: 1x de novo fs in a proband with severe mirror image foot polydactyly. No functional studies done but cited Itou 2011 - mouse and zebrafish studies demonstrated the role of HMGB1 in regulating digit number during embryonic limb development Sources: Literature |
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Limb disorders v2.49 | UBA2 | Zornitza Stark reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34159400; Phenotypes: Split hand malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.49 | TBX4 | Ivone Leong Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome 147891 to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.48 | LTBP1 | Eleanor Williams Tag Q3_21_rating tag was added to gene: LTBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.48 | LTBP1 | Eleanor Williams Classified gene: LTBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.48 | LTBP1 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber but with a recommendation for green rating following GMS review. Individuals from 3 unrelated families reported with brachydactyly as part of a broader phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.48 | LTBP1 | Eleanor Williams Gene: ltbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.47 | LTBP1 |
Eleanor Williams gene: LTBP1 was added gene: LTBP1 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Brachydactyly, HP:0001156; Clinodactyly, HP:0030084; Syndactyly, HP:0001159 Review for gene: LTBP1 was set to GREEN Added comment: Associated with Cutis laxa, autosomal recessive, type IIE #619451 (AR) in OMIM. PMID: 33991472 - Pottie et al 2021 - report 8 individuals from 4 unrelated consanguineous families with 4 different homozygous premature truncating LTBP1 variants. Core clinical features include cutis laxa, craniosynostosis, a copper beaten calvarium, short stature, and discernible craniofacial characteristics. Brachydactyly was noted in 7/8 individuals, Clinodactyly in 7/8 individuals and Syndactyly in 5/8 individuals. Sources: Literature |
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Limb disorders v2.46 | BMPR1B | Arina Puzriakova Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2, 112600 to Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.45 | WNT10B | Ivone Leong Phenotypes for gene: WNT10B were changed from Split-hand/foot malformation 6 225300 to Split-hand/foot malformation 6, OMIM:225300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.44 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Frontometaphyseal dysplasia 305620 XLR; Melnick-Needles syndrome, 309350; Osteodysplasty Melnick Needles 309350 XLD; Otopalatodigital syndrome, type II 304120 XLD; Terminal osseous dysplasia 300244 to Frontometaphyseal dysplasia 1, OMIM:305620; Melnick-Needles syndrome, OMIM:309350; Otopalatodigital syndrome, type I, OMIM:311300; Otopalatodigital syndrome, type II, OMIM:304120; Terminal osseous dysplasia, OMIM:300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.43 | FZD2 | Arina Puzriakova Phenotypes for gene: FZD2 were changed from Omodysplasia 2, 164745; Robinow syndrome to Omodysplasia 2, OMIM:164745; Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.42 | GLI3 | Arina Puzriakova Publications for gene: GLI3 were set to 31115189 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.41 | GLI3 | Arina Puzriakova reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32591344; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.41 | MAPKAPK5 | Arina Puzriakova Classified gene: MAPKAPK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.41 | MAPKAPK5 | Arina Puzriakova Gene: mapkapk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.40 | MAPKAPK5 |
Arina Puzriakova gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 33442026 Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly Review for gene: MAPKAPK5 was set to AMBER Added comment: MAPKAPK5 is not yet associated with any phenotype in OMIM (last edited on 06/04/2016) but has a 'probable' disease confidence rating for 'MAPKAPK5-associated syndrome with synpolydactyly' in Gene2Phenotype. - PMID: 33442026 (2021) - 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization. Rating Amber, awaiting further cases. Sources: Literature |
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Limb disorders v2.39 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1 209900 to Polydactyly; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.38 | MECOM |
Ellen Thomas gene: MECOM was added gene: MECOM was added to Limb disorders. Sources: Other Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MECOM were set to Radioulnar synostosis; Brachymesophalangia Review for gene: MECOM was set to AMBER Added comment: On bleeding disorders panels but also reported to have limb phenotypes in some patients Sources: Other |
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Limb disorders v2.38 | KCNN3 | Arina Puzriakova Classified gene: KCNN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.38 | KCNN3 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update - sufficient unrelated cases to establish causation. Mild end of the radial ray spectrum from reports to date, however included. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.38 | KCNN3 | Arina Puzriakova Gene: kcnn3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.37 | KCNN3 |
Arina Puzriakova gene: KCNN3 was added gene: KCNN3 was added to Limb disorders. Sources: Literature Q2_21_rating tags were added to gene: KCNN3. Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282; 33594261 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854 Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KCNN3 was set to GREEN Added comment: Associated with 'Zimmermann-Laband syndrome' in OMIM (MIM# 618658) and Gene2Phenotype ('probable' disease confidence rating). At least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia and hypertrichosis. Radial ray defects mostly within the milder end of the spectrum but do include hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet. Sources: Literature |
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Limb disorders v2.36 | WDR35 | Arina Puzriakova Tag curated_removed tag was added to gene: WDR35. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | WDR34 | Arina Puzriakova Tag curated_removed tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | WDR19 | Arina Puzriakova Tag curated_removed tag was added to gene: WDR19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TTC21B | Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TRAF3IP1 | Arina Puzriakova Tag curated_removed tag was added to gene: TRAF3IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TMEM237 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TMEM231 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TMEM216 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TMEM138 | Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TCTN3 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TCTN2 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TCTEX1D2 | Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | RPGRIP1L | Arina Puzriakova Tag curated_removed tag was added to gene: RPGRIP1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | OFD1 | Arina Puzriakova Tag curated_removed tag was added to gene: OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | NPHP3 | Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | NEK1 | Arina Puzriakova Tag curated_removed tag was added to gene: NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | KIF7 | Arina Puzriakova Tag curated_removed tag was added to gene: KIF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | KIAA0586 | Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | INPP5E | Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | IFT80 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT80. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | IFT52 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | IFT172 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | IFT140 | Arina Puzriakova Tag curated_removed tag was added to gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | ICK | Arina Puzriakova Tag curated_removed tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | HYLS1 | Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | EVC2 | Arina Puzriakova Tag curated_removed tag was added to gene: EVC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | EVC | Arina Puzriakova Tag curated_removed tag was added to gene: EVC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | DYNC2LI1 | Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | DYNC2H1 | Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | CSPP1 | Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | CEP41 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | CEP164 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP164. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | CEP120 | Arina Puzriakova Tag curated_removed tag was added to gene: CEP120. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | CC2D2A | Arina Puzriakova Tag curated_removed tag was added to gene: CC2D2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | C5orf42 | Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | C2CD3 | Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | B9D2 | Arina Puzriakova Tag curated_removed tag was added to gene: B9D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | ALMS1 | Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | AHI1 | Arina Puzriakova Tag curated_removed tag was added to gene: AHI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TCTEX1D2 | Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | TCTEX1D2 | Catherine Snow commented on gene: TCTEX1D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.36 | FSTL5 |
Eleanor Williams gene: FSTL5 was added gene: FSTL5 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: FSTL5 was set to Unknown Publications for gene: FSTL5 were set to 33105483 Phenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus Review for gene: FSTL5 was set to RED Added comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice. Not sure about the phenotypic fit for the limb disorders panel but adding as red and will wait for the cases where the clinical phenotype is reported in cases with variants in FSTL5. Sources: Literature |
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Limb disorders v2.35 | IFT52 | Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Polydactyly to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.34 | ICK | Arina Puzriakova Phenotypes for gene: ICK were changed from ECO; Short-rib thoracic dysplasia with polydactyly; Rhizomelia; Polydactyly; SRTD; Mesomelia; Endocrine-cerebroosteodysplasia, 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.33 | TCTEX1D2 | Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Polydactyly; Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Brachydactyly to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; Polydactyly; Brachydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.32 | TCTEX1D2 | Arina Puzriakova Tag watchlist was removed from gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.32 | TCTEX1D2 | Arina Puzriakova commented on gene: TCTEX1D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.32 | TRAF7 | Eleanor Williams Classified gene: TRAF7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.32 | TRAF7 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating at amber for now, but with recommendation for green rating following GMS review as there are now several more cases with hand anomalies relevant to this panel reported in the publication from Castilla-Vallmanya et al 2020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.32 | TRAF7 | Eleanor Williams Gene: traf7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.31 | TRAF7 | Eleanor Williams Tag for-review tag was added to gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.31 | TRAF7 | Eleanor Williams edited their review of gene: TRAF7: Added comment: PMID: 32376980 - Castilla-Vallmanya et al 2020 - report on a set of 45 patients with a developmental delay-malformation syndrome in which heterozygous missense variants in TRAF7 were identified. Variable anomalies of the hands were reported including brachydactyly (n = 6), and syndactyly (n = 5).; Changed publications: 32376980; Changed phenotypes: developmental delay-malformation syndrome, brachydactyly, syndactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.31 | UBA2 | Eleanor Williams Classified gene: UBA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.31 | UBA2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber as there are 2 cases with variants in this gene and ectrodactyly reported. Also currently on the Skeletal dysplasia panel as amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.31 | UBA2 | Eleanor Williams Gene: uba2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.30 | UBA2 |
Eleanor Williams gene: UBA2 was added gene: UBA2 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBA2 were set to 31332306; 24243649; 29988626; 31587267 Phenotypes for gene: UBA2 were set to split hand-foot malformation MONDO:0016576; aplasia cutis congenita (disease) MONDO:0007145; ectrodactyly Review for gene: UBA2 was set to AMBER Added comment: Two reports of SNV in UBA2 in patients with split-hand/foot malformation. There are also reports of microdeletions including the UBA2 gene in 2 patients with split-hand/foot malformation/ectrodactyly PMID: 31332306 - Yamoto et al 2019 - report one Japanese patient (38-II-1) with split-hand/foot malformation and a de novo c.1324dupT p.(Tyr442Leufs17) variant in UBA2 was found by exome sequencing. Not found in gnomAD. The UBA2 gene was considered a candidate gene because deletion of the region containing this gene (19q13.11) was found in a SHFM patient in this study using aCGH (patient 26-II-3) and in two other studies where microdeletions encompassing the UBA2 gene (among many other genes) were found in singular patients with ectrodactyly; PMID: 24243649 Chowdhury et al 2013 and PMID: 29988626 Abe et al 2019. PMID: 31587267 - mother and son with aplasia cutis congenita. The son also has bilateral ectrodactyly, a horseshoe kidney, low‐lying conus medullaris and tracheo‐oesophageal fistula. WES identified a heterozygous deletion at c.327delT of UBA2, which leads to a frameshift and early top codon, in both the son and his mother. Sources: Literature |
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Limb disorders v2.29 | SMO | Eleanor Williams Tag for-review tag was added to gene: SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.29 | SMO | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving MOI has monoallelic just now, but with recommendation for updating to BOTH monoallelic and biallelic at the next review, due to additional biallelic cases now reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.29 | SMO | Eleanor Williams Mode of inheritance for gene: SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.28 | SMO | Eleanor Williams Phenotypes for gene: SMO were changed from Polydactyly; Curry-Jones syndrome, somatic mosaic, MIM:601500; Cutaneous syndactyly; Preaxial polydactyly to Curry-Jones syndrome, somatic mosaic, OMIM:601500; postaxial polydactyly MONDO:0020927; Microcephaly HP:0000252; congenital heart disease MONDO:0005453; Hirschsprung disease MONDO:0018309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.27 | SMO | Eleanor Williams Publications for gene: SMO were set to 27236920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.26 | SMO | Eleanor Williams reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283; Phenotypes: postaxial polydactyly MONDO:0020927, Microcephaly HP:0000252, congenital heart disease MONDO:0005453, Hirschsprung disease MONDO:0018309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.26 | KIAA0825 | Eleanor Williams Classified gene: KIAA0825 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.26 | KIAA0825 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, but with recommendation for green rating following GMS review. 3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.26 | KIAA0825 | Eleanor Williams Gene: kiaa0825 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.25 | KIAA0825 | Eleanor Williams Tag for-review tag was added to gene: KIAA0825. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.25 | KIAA0825 | Eleanor Williams Phenotypes for gene: KIAA0825 were changed from Polydactyly, postaxial, type A10, MIM# 618498 to Polydactyly, postaxial, type A10 OMIM:618498; polydactyly, postaxial, type a10 MONDO:0032785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.24 | KIAA0825 | Eleanor Williams edited their review of gene: KIAA0825: Changed rating: GREEN; Changed publications: 32147526, 30982135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.24 | KIAA0825 | Eleanor Williams reviewed gene: KIAA0825: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly, postaxial, type A10 OMIM:618498, polydactyly, postaxial, type a10 MONDO:0032785; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.24 | IQCE | Eleanor Williams Tag for-review tag was added to gene: IQCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.24 | IQCE | Eleanor Williams Phenotypes for gene: IQCE were changed from Polydactyly, postaxial, type A7 617642 to Polydactyly, postaxial, type A7 OMIM:617642; polydactyly, postaxial, type a7 MONDO:0060550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.23 | IQCE | Eleanor Williams edited their review of gene: IQCE: Changed phenotypes: Polydactyly, postaxial, type A7 OMIM:617642, polydactyly, postaxial, type a7 MONDO:0060550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.23 | IQCE | Eleanor Williams edited their review of gene: IQCE: Changed phenotypes: Polydactyly, postaxial, type A7 OMIM:617642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.23 | IQCE | Eleanor Williams Publications for gene: IQCE were set to 28488682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.22 | IQCE | Eleanor Williams Classified gene: IQCE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.22 | IQCE | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with recommendation of promoting to green following GMS review. 4 cases now reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.22 | IQCE | Eleanor Williams Gene: iqce has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.21 | IQCE |
Eleanor Williams edited their review of gene: IQCE: Added comment: PMID: 28488682 Umair et al 2017 report a large consanguineous family of Pakistani origin segregating post-axial polydactyly type A in the feet. A homozygous splice acceptor site variant (c.395-1G>A) was identified by WES in the IQCE gene, which completely co-segregated with the phenotype in the family. They report that the Iqce knockout mouse (MGI:1921489) shows various types of skeletal deformities including pre-axial polydactyly, digit abnormalities, and short and long tibia. PMID: 31549751 - Estrada-Cuzcano et al 2019 - report 3 families with biallelic pathogenic variations in IQCE identified by WES. The same variant c.895_904del (p.Val301Serfs*8) was found in all families without sharing a common haplotype, suggesting a recurrent mechanism. In one family this variant as compound heterozygous with another IQCE variant p.Glu451Argfs*15. These families with post-axial polydactyly were initially recruited as syndromic ciliopathies and two have additional pathogenic variations in other genes (TULP1 and ATP6V1B1) explaining their apparent syndromic phenotype. Functional studies based on the patient's cells or zebrafish (Danio rerio) assays confirm the ciliary role of IQCE.; Changed rating: GREEN; Changed publications: 28488682, 31549751; Changed phenotypes: postaxial polydactyly MONDO:0020927; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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Limb disorders v2.21 | B9D1 | Arina Puzriakova Phenotypes for gene: B9D1 were changed from Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.20 | B9D2 | Arina Puzriakova Phenotypes for gene: B9D2 were changed from Polydactyly; ?Meckel syndrome 10 614175; Joubert syndrome 34 614175 to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.19 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590; Cornelia de Lange syndrome 2 300590 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.18 | PRKACB | Arina Puzriakova Classified gene: PRKACB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.18 | PRKACB | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag) - 4 unrelated cases, all presenting polydactyly of the hands and/or feet as well as other postaxial anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.18 | PRKACB | Arina Puzriakova Gene: prkacb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.17 | PRKACB |
Arina Puzriakova gene: PRKACB was added gene: PRKACB was added to Limb disorders. Sources: Literature for-review tags were added to gene: PRKACB. Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability Review for gene: PRKACB was set to GREEN Added comment: Palencia-Campos et al (2020 - PMID: 33058759) report on the phenotype of 4 individuals heterozygous for PRKACB pathogenic variants. The most characteristic features in all individuals with PRKACB variants, included postaxial polydactyly of hands (3/4 bilateral, 1/4 unilateral) and feet (3/4 bilateral), clinodactyly (2/4), brachydactyly (1/4) and congenital heart defects (CHD 4/4) namely a common atrium or AVSD. Other variably occurring features included short stature, limbs, narrow chest, abnormal teeth, oral frenula, nail dysplasia. One individual with PRKACB variant presented tumours. Intellectual disability was reported in 2/4 individuals with PRKACB variant (1/4: mild, 1/4: severe). WES was carried out in all. 4 different variants were identified (NM_002731.3: p.His88Arg/Asn, p.Gly235Arg, c.161C>T - p.Ser54Leu). One of the individuals was mosaic for the latter variant, while in all other cases the variant had occurred de novo. Protein kinase A (PKA) is a tetrameric holoenzyme formed by the association of 2 catalytic (C) subunits with a regulatory (R) subunit dimer. Activation of PKA is achieved through binding of 2 cAMP molecules to each R-subunit, and unleashing(/dissociation) of C-subunits to engage substrates. PRKACA/B genes encode the Cα- and Cβ-subunits while the 4 functionally non-redundant regulatory subunits are encoded by PRKAR1A/1B/2A/2B genes. The authors provide evidence that the variants confer increased sensitivity of PKA holoenzymes to activation by cAMP (compared to wt). By performing ectopic expression of wt or mt PRKACA/B (variants studied : PRKACB p.Gly235Arg) in NIH 3T3 fibroblasts, the authors demonstrate that inhibition of hedgehog signalling likely underlies the developmental defects observed in affected individuals. Sources: Literature |
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Limb disorders v2.16 | CEP55 | Arina Puzriakova Classified gene: CEP55 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.16 | CEP55 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.16 | CEP55 | Arina Puzriakova Gene: cep55 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | CEP55 | Arina Puzriakova Tag for-review tag was added to gene: CEP55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | KYNU | Arina Puzriakova Classified gene: KYNU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | KYNU | Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.15 | KYNU | Arina Puzriakova Gene: kynu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.14 | HDAC4 | Sarah Leigh Publications for gene: HDAC4 were set to 20691407; 15521982; 19365831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.13 | IFT27 | Arina Puzriakova Tag for-review tag was added to gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.13 | IFT27 | Arina Puzriakova Publications for gene: IFT27 were set to 24488770; 29704304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.12 | IFT27 | Arina Puzriakova Classified gene: IFT27 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.12 | IFT27 | Arina Puzriakova Added comment: Comment on list classification: With the addition of recent publications, there are now at least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.12 | IFT27 | Arina Puzriakova Gene: ift27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.11 | IFT27 | Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.11 | KIAA0825 |
Zornitza Stark gene: KIAA0825 was added gene: KIAA0825 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 32147526; 30982135 Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, MIM# 618498 Review for gene: KIAA0825 was set to GREEN gene: KIAA0825 was marked as current diagnostic Added comment: Three families reported. Sources: Literature |
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Limb disorders v2.11 | TBX5 | Eleanor Williams Publications for gene: TBX5 were set to 8730285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.10 | TBX5 | Eleanor Williams reviewed gene: TBX5: Rating: ; Mode of pathogenicity: None; Publications: 31373354; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.10 | C16orf62 | Sarah Leigh Classified gene: C16orf62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.10 | C16orf62 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 31712251). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.10 | C16orf62 | Sarah Leigh Gene: c16orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.9 | C16orf62 |
Sarah Leigh gene: C16orf62 was added gene: C16orf62 was added to Limb disorders. Sources: Literature new-gene-name tags were added to gene: C16orf62. Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 31712251 Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome Review for gene: C16orf62 was set to AMBER Added comment: The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L) Sources: Literature |
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Limb disorders v2.8 | KYNU | Eleanor Williams Tag for-review tag was added to gene: KYNU. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.8 | KYNU | Eleanor Williams Classified gene: KYNU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.8 | KYNU | Eleanor Williams Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Classified gene: KYNU as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to green as 3 unrelated cases have been reported with a distinct hand hyperphalangism phenotype and biallelic or compound heterozygous variants, and segregation as expected in the family in 2 cases (3rd could not be established). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.7 | KYNU | Eleanor Williams Gene: kynu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.6 | KYNU |
Eleanor Williams gene: KYNU was added gene: KYNU was added to Limb disorders. Sources: Literature Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 31923704 Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, 617661; hand hyperphalangism Review for gene: KYNU was set to GREEN Added comment: KYNU is associated with Vertebral, cardiac, renal, and limb defects syndrome 2 #617661 (AR) in OMIM. PMID: 31923704 Ehmke et al 2020 - report 3 unrelated individuals with a ballelic or compound het (a deletion of axons 1-8 and a missense variant) in KYNU and a multisystemic syndrome with hand hyperphalangism resembling Catel-Manzke syndrome. Other features included heart defects and developmental delay (mild in 2 cases) and mild vertebral defects. Microretrognathia was observed in 2 patients consistent with Catel-Manzke syndrome. Two affected individuals tested had elevated urine xanthurenic acid. PMID: 28792876 Shi et al 2017 - report 2 families where the proband is homozygous or compound heterozygous for loss of function variants in KUNU. The hyperphalgnism described by Ehmke et al was NOT seen, although one patient had talipes, syndactyly and rhizomelia and the other had shortened long bones. Both had cardiac, renal and defects in vertebral segmentation. Sources: Literature |
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Limb disorders v2.5 | SMO | Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 32413283; Phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | WDR34 | Catherine Snow Tag new-gene-name tag was added to gene: WDR34. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | WDR34 | Catherine Snow commented on gene: WDR34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | WDR60 | Catherine Snow commented on gene: WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | WDR60 | Catherine Snow Tag new-gene-name tag was added to gene: WDR60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | IQCE | Zornitza Stark edited their review of gene: IQCE: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | IQCE | Zornitza Stark reviewed gene: IQCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 31549751, 28488682; Phenotypes: Postaxial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Classified gene: CEP55 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green after agreement with Eleanor Williams- relevant phenotype for panel, and sufficient cases to support association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.5 | CEP55 | Rebecca Foulger Gene: cep55 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.4 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:32100459 (Barrie et al., 2020) describe 7 living indivduals (5 families) with biallelic CEP55 variants (compound het and homozygous splice site variant). The phenotype includes microcephaly, developmental delay and syndactyly. Patients 1,2,3,4 had bilateral toe syndactyly and 5th finger clinodactyly, Patient 5 had unilateral club foot. The three siblings (patients 5,6,7) all had small hands and feet. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.4 | CEP55 |
Rebecca Foulger gene: CEP55 was added gene: CEP55 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 32100459 Phenotypes for gene: CEP55 were set to microcephaly, developmental delay and bilateral toe syndactyly Added comment: Added to Limb disorders panel on advice from Helen Brittain, Genomics England Clinical Team. Phenotype of living individuals in PMID:32100459 (Barrie et al., 2020) includes syndactyly. Sources: Literature |
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Limb disorders v2.3 | Eleanor Williams Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.0 | SHOX | Eleanor Williams commented on gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v2.0 | Eleanor Williams promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.143 | Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.142 | PDE6D | Eleanor Williams Classified gene: PDE6D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.142 | PDE6D | Eleanor Williams Added comment: Comment on list classification: Promoting to amber as now two cases reported, both with polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.142 | PDE6D | Eleanor Williams Gene: pde6d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.141 | PDE6D | Ellen McDonagh reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.141 | EPHA4 | Eleanor Williams changed review comment from: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity needs clarification.; to: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity and deliniating reigion needs clarification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.140 | WDPCP | Eleanor Williams Publications for gene: WDPCP were set to 25427950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.139 | WDPCP | Eleanor Williams Classified gene: WDPCP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.139 | WDPCP | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to green. It has limited evidence in association with Bardet-Biedl syndrome 15, but there are 3 cases reported in association with Oral facial digital syndrome and plausible disease causing variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.139 | WDPCP | Eleanor Williams Gene: wdpcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.138 | EPHA4 | Eleanor Williams Classified gene: EPHA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.138 | EPHA4 | Eleanor Williams Added comment: Comment on list classification: Rating this gene as amber for now. Deletion of a region including this gene has been reported in PMID: 25959774 - Lupiáñez et al 2015, however the mechanism for pathogenicity needs clarification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.138 | EPHA4 | Eleanor Williams Gene: epha4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.137 | EPHA4 | Eleanor Williams commented on gene: EPHA4: A curation request has been submitted to Clingen regarding the regions of deletion, duplication and inversion around EPHA4 reported in PMID: 25959774 - Lupiáñez et al 2015. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.137 | EPHA4 |
Eleanor Williams changed review comment from: EPHA4 not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 25959774 - Lupiáñez et al 2015 - studied limb abnormalities in 3 sets of families: Group 1 - 3 unrelated families with a dominantly inherited novel type of brachydactyly, characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. aCGH revealed heterozygous deletions of 1.75–1.9 Mb on chromosome 2q35–36 in all three affected families. All three deletions include the EPHA4 gene along with a large portion of its surrounding TAD and extend into the non-coding part of the adjacent PAX3 TAD (topologically associated domain), thereby removing the predicted boundary between the EPHA4 and PAX3 TADs. Mutant mice with a deletion corresponding to the human disease alleles recapitulated the phenotype observed in patients. Group 2 - 2 unrelated families with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet. By whole genome sequencing they detected a ~1.1 Mb heterozygous inversion in family F1 and a ~1.4 Mb heterozygous duplication, arranged in direct tandem orientation, in family F2. The telomeric breakpoints were located 1.4 Mb away from the EPHA4 gene within the gene desert in the case of the inversion, and 1.2 Mb in the case of the duplication. Heterozygous as well as homozygous newborn mice generated via tetraploid aggregation died shortly after birth of unknown cause and did not show overt limb phenotypes or other morphological defects Group 3 - a family that carries a heterozygous ~900 kb duplication in chromosomal region 2q35 that results in severe polysyndactyly and craniofacial abnormalities. The phenotype is reminiscent of the doublefoot (Dbf) mouse mutant, which also features massive polysyndactyly and was shown to be caused by a ~600 kb deletion affecting the same region (Babbs et al., 2008) Using 4C-seq they show that In wild-type distal limbs, there was minimal interaction of Pax3, Wnt6 and Ihh with non-coding sequences in the Epha4 TAD. In contrast, all three genes showed substantial interaction with the Epha4 TAD in the mutants. Similar results were found using patient fibroblasts. Genomic re-arrangements in the Epha4 TAD can result in limb abnormalities. It maybe best to represent these as regions of gain or loss in PanelApp; to: EPHA4 not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 25959774 - Lupiáñez et al 2015 - studied limb abnormalities in 3 sets of families: Group 1 - 3 unrelated families with a dominantly inherited novel type of brachydactyly, characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. aCGH revealed heterozygous deletions of 1.75–1.9 Mb on chromosome 2q35–36 in all three affected families. All three deletions include the EPHA4 gene along with a large portion of its surrounding TAD and extend into the non-coding part of the adjacent PAX3 TAD (topologically associated domain), thereby removing the predicted boundary between the EPHA4 and PAX3 TADs. Mutant mice with a deletion corresponding to the human disease alleles recapitulated the phenotype observed in patients. They detected a significant upregulation of Pax3 in DelB/+ limbs in mice, and DelB/+ (brachydactyly-like deletion) mice showed strong misexpression of Pax3 in the distal anterior part of the autopod, in a pattern resembling endogenous Epha4 expression. Group 2 - 2 unrelated families with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet. By whole genome sequencing they detected a ~1.1 Mb heterozygous inversion in family F1 and a ~1.4 Mb heterozygous duplication, arranged in direct tandem orientation, in family F2. The telomeric breakpoints were located 1.4 Mb away from the EPHA4 gene within the gene desert in the case of the inversion, and 1.2 Mb in the case of the duplication. Heterozygous as well as homozygous newborn mice generated via tetraploid aggregation died shortly after birth of unknown cause and did not show overt limb phenotypes or other morphological defects Group 3 - a family that carries a heterozygous ~900 kb duplication in chromosomal region 2q35 that results in severe polysyndactyly and craniofacial abnormalities. The phenotype is reminiscent of the doublefoot (Dbf) mouse mutant, which also features massive polysyndactyly and was shown to be caused by a ~600 kb deletion affecting the same region (Babbs et al., 2008) Using 4C-seq they show that In wild-type distal limbs, there was minimal interaction of Pax3, Wnt6 and Ihh with non-coding sequences in the Epha4 TAD. In contrast, all three genes showed substantial interaction with the Epha4 TAD in the mutants. Similar results were found using patient fibroblasts. Genomic re-arrangements in the Epha4 TAD can result in limb abnormalities. It maybe best to represent these as regions of gain or loss in PanelApp |
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Limb disorders v1.137 | SOX9 | Eleanor Williams commented on gene: SOX9: The region upstream of SOX9 where duplications are assoicated with increased expression of KCNJ2 has been submitted to Clingen for review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.137 | TRAF7 | Eleanor Williams Tag missense tag was added to gene: TRAF7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.137 | WDPCP |
Eleanor Williams changed review comment from: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet. PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers. PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details 3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS.; to: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants (a missense variant and 2bp deletion leading to a frameshift) in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet. PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers. PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details 3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS. |
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Limb disorders v1.137 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.136 | SDCCAG8 | Eleanor Williams Classified gene: SDCCAG8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.136 | SDCCAG8 | Eleanor Williams Added comment: Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore changing the rating of this gene to red on the limb disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.136 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.135 | EIF4A3 | Eleanor Williams changed review comment from: Comment on list classification: Relevant phenotype, however potential founder effect in the Brazilian population described to date. Further evidence needed therefore rating amber. Rating agreed with Genomics England clinical team.; to: Comment on list classification: Relevant phenotype, however potential founder effect in the Brazilian population described to date. The phenotype of the patient from England/Kenya is borderline for this panel. Further evidence needed therefore rating amber. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.135 | TXNDC15 | Eleanor Williams Classified gene: TXNDC15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.135 | TXNDC15 |
Eleanor Williams Added comment: Comment on list classification: Adding this gene to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only. 3 cases reported with polydactyly as part of the phenotype. |
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Limb disorders v1.135 | TXNDC15 | Eleanor Williams Gene: txndc15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.134 | TXNDC15 |
Eleanor Williams gene: TXNDC15 was added gene: TXNDC15 was added to Limb disorders. Sources: Other Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TXNDC15 were set to 27894351 Phenotypes for gene: TXNDC15 were set to Meckel-Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: Comment from copied from skeletal ciliopathies panel: Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis. Sources: Other |
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Limb disorders v1.133 | DDX59 | Eleanor Williams Classified gene: DDX59 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.133 | DDX59 | Eleanor Williams Added comment: Comment on list classification: Adding this gene back to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.133 | DDX59 | Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.132 | CENPF | Eleanor Williams Classified gene: CENPF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.132 | CENPF | Eleanor Williams Added comment: Comment on list classification: Adding this gene to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.132 | CENPF | Eleanor Williams Gene: cenpf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.131 | CENPF | Eleanor Williams Phenotypes for gene: CENPF were changed from Polydactyly to Polydactyly; Stromme syndrome 243605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.130 | CENPF | Eleanor Williams Mode of inheritance for gene: CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.129 | WDPCP |
Eleanor Williams commented on gene: WDPCP: PMID: 28289185 - Bruel et al 2017 - report 1 case (patient 10) with compound heterozygous variants in WDPCP and an Oral-facial-digital syndrome phenotype which includes Post-axial polydactyly of the hands and syndactyly of the feet. PMID: 27158779 - Toriyama et al 2016 - report 1 case of a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly. He was found to be compound heterozygous for two mutations in WDPCP, a frameshift and a missense variant predicted to alter splicing. Each parent had one of the variants. Functional studies in Xenopus MCCs and found that the frame-shift allele resulted in total loss of protein, while the point mutation led to a consistent but more modest defect in protein stability They also observed Y-shaped metacarpals and defects in tongue and palate morphology in Wdpcp mouse mutants PMID: 25427950 - Saari et al 2015 - report 1 case of a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. By whole exome sequencing they found she is a compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP. The parents and two siblings were heterozygous carriers. PMID: Kim et al 2010 - report 1 cases of a proband with a clinical diagnosis of BBS and a homozygous Fritz mutation that segregated with the disorder. Both parents and an unaffected sib were heterozygous carriers. No details 3 cases with oralfacial digitial syndrome type phenotypes and one with a clinical diagnosis of BBS. |
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Limb disorders v1.129 | IHH | Eleanor Williams Phenotypes for gene: IHH were changed from Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis to Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500; syndactyly and craniosynostosis; F syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.128 | IHH | Eleanor Williams Publications for gene: IHH were set to 21167467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | IHH | Eleanor Williams commented on gene: IHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | SOX9 |
Eleanor Williams changed review comment from: Associated with Campomelic dysplasia (114290) in OMIM and CAMPOMELIC DYSPLASIA and PIERRE ROBIN SEQUENCE in Gene2Phenotype (both confirmed). Publications relating to the duplications in the region between KCNJ2 and SOX9: PMID: 19639023 - Kurth et al 2009 - investigated four families with symmetric brachydactyly of the hands and feet as well as hyponychia or anonychia. All affected were of normal height and had no other skeletal abnormality. They identified overlapping duplications in a ∼2 Mb interval on chromosome 17q24.3. Comparison of the four duplications revealed a minimal critical region of ∼1.2 Mb encompassing a large gene desert between KCNJ2 and SOX9. In situ hybridizations in mouse embryos, showed that Sox9 was strongly expressed in the distal mesenchymal condensations at embryonic day (E) 12.5 that will later develop into the terminal phalanges and, at a later time point (E17.5), in the anlagen of the developing claw. PMID: 27706140 - Franke et al 2016 - used chromosome conformation capture methods to look at topologically associated domains in patient cells and mouse models where the regulatory region next to SOX9 is duplicated. They generated mice with a duplicated region associated with Cooks syndrome as reported by Kurth et al 2009 (which they call Dup-C). cHi-C of E12.5 Dup-C limb buds showed a new chromatin domain corresponding to the duplicated region. RNA sequencing expression analysis of Dup-C limb buds at E12.5 and E17.5 confirmed the upregulation of Kcnj2, whereas other genes around the locus stayed unchanged, in particular Sox9, but also Kcnj16. Thus, the inclusion of Kcnj2 in the neo-TAD resulted in its activation by regulatory elements that originally belonged to the Sox9 TAD. Other publications. PMID: 21373255 - Corbani et al 2011 - reported patient with SOX9 missense mutation and mild form of campomelic dysplasia. Features include short stature, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. PMID: 24704791 - Takenouchi et al 2014 - report patient with many features of the type 2 collagen disorder including micrognathia, cleft palate, flat midface, and visual and hearing impairment, and a retarded enchondral ossification of the appendicular skeleton during the infantile period. The patient had in addition severe developmental delay. A de novo heterozygous missense mutation, c.239T>G p.Val80Gly, in exon 1 of SOX9 was found. Summary: Evidence that duplication of a region upstream of SOX9 can result in a brachydactyly phenotype. This appears to be as a result of increased expression of KCNJ2. It maybe most appropriate to add this upstream region as a CNV.; to: Associated with Campomelic dysplasia (114290) in OMIM and CAMPOMELIC DYSPLASIA and PIERRE ROBIN SEQUENCE in Gene2Phenotype (both confirmed). Publications relating to the duplications in the region between KCNJ2 and SOX9: PMID: 19639023 - Kurth et al 2009 - investigated four families with symmetric brachydactyly of the hands and feet as well as hyponychia or anonychia. All affected were of normal height and had no other skeletal abnormality. They identified overlapping duplications in a ∼2 Mb interval on chromosome 17q24.3. Comparison of the four duplications revealed a minimal critical region of ∼1.2 Mb encompassing a large gene desert between KCNJ2 and SOX9. In situ hybridizations in mouse embryos, showed that Sox9 was strongly expressed in the distal mesenchymal condensations at embryonic day (E) 12.5 that will later develop into the terminal phalanges and, at a later time point (E17.5), in the anlagen of the developing claw. PMID: 27706140 - Franke et al 2016 - used chromosome conformation capture methods to look at topologically associated domains in patient cells and mouse models where the regulatory region next to SOX9 is duplicated. They generated mice with a duplicated region associated with Cooks syndrome as reported by Kurth et al 2009 (which they call Dup-C). cHi-C of E12.5 Dup-C limb buds showed a new chromatin domain corresponding to the duplicated region. RNA sequencing expression analysis of Dup-C limb buds at E12.5 and E17.5 confirmed the upregulation of Kcnj2, whereas other genes around the locus stayed unchanged, in particular Sox9, but also Kcnj16. Thus, the inclusion of Kcnj2 in the neo-TAD resulted in its activation by regulatory elements that originally belonged to the Sox9 TAD. Other publications report SNVs and deletions of SOX9 in association with Campomelic dysplasia Summary: Evidence that duplication of a region upstream of SOX9 can result in a brachydactyly phenotype. This appears to be as a result of increased expression of KCNJ2. It maybe most appropriate to add this upstream region as a CNV. |
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Limb disorders v1.127 | EIF4A3 |
Eleanor Williams changed review comment from: PMID: 10594883 - Walter-Nicolet et al 1999 - report a French boy with phenotype similar to Richieri-Costa and Pereira form of acrofacial dysostosis but no genome analysis done. PMID: 29112243 - Bertola et al 2018 - describe 5 (4 Brasilian, one from England, of African ancestry) new individuals with Richieri-Costa-Pereira syndrome. The patient from England/Kenya showed limb abnormalities of Hypoplastic hallux and club feet only. Expansions of the repeated motif in the 5′ UTR of EIF4A3 were found in all individuals and ranged from 14 to 16 repeats.; to: Additional cases: PMID: 10594883 - Walter-Nicolet et al 1999 - report a French boy with phenotype similar to Richieri-Costa and Pereira form of acrofacial dysostosis but no genome analysis done. PMID: 29112243 - Bertola et al 2018 - describe 5 (4 Brasilian, one from England, of African ancestry) new individuals with Richieri-Costa-Pereira syndrome. The patient from England/Kenya showed limb abnormalities of Hypoplastic hallux and club feet only. Expansions of the repeated motif in the 5′ UTR of EIF4A3 were found in all individuals and ranged from 14 to 16 repeats. |
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Limb disorders v1.127 | EIF4A3 |
Eleanor Williams changed review comment from: PMID: 10594883 - Walter-Nicolet et al 1999 - report a French boy with phenotype similar to Richieri-Costa and Pereira form of acrofacial dysostosis but no genome analysis done. PMID: 29112243 - Bertola et al 2018 - describe 5 (4 Brasilian, one from England, of African ancestry) new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. The patient from England/Kenya showed limb abnormalities of Hypoplastic hallux and club feet only. Expansions of the repeated motif in the 5′ UTR of EIF4A3 were found in all individuals and ranged from 14 to 16 repeats.; to: PMID: 10594883 - Walter-Nicolet et al 1999 - report a French boy with phenotype similar to Richieri-Costa and Pereira form of acrofacial dysostosis but no genome analysis done. PMID: 29112243 - Bertola et al 2018 - describe 5 (4 Brasilian, one from England, of African ancestry) new individuals with Richieri-Costa-Pereira syndrome. The patient from England/Kenya showed limb abnormalities of Hypoplastic hallux and club feet only. Expansions of the repeated motif in the 5′ UTR of EIF4A3 were found in all individuals and ranged from 14 to 16 repeats. |
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Limb disorders v1.127 | LMBR1 |
Eleanor Williams changed review comment from: Variants within LMBR1 coding sequence: PMID:11090342 - Ianakiev et al - 2001- found a genomic 4- to 6-kb deletion in LMBR1 in 5 unrelated Brazilian families with acheiropody. The deletion led to a trascript lacking exon 4 and introducing a premature stop codon downstream of exon 3. Haplotype analysis confirmed the expectation that a single common ancestral mutation was the cause of all the cases. PMID: 26749485 - Shamseldin et al 2016 - patient with acheiropodia who had a nullizygous deletion of 102 kb spanning LMBR1. The ZRS is a sonic hedgehog (SHH) regulatory region of approx 800bp. It is not thought to affect the expression LMBR1. Variants and duplications affecting the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene: Numerous reports of heterozygous variants in ZRS being associated with preaxial polydactyly/Werner mesomelic syndrome - (PMID: 31395945 - Xu et al 2019 - 1 case, 446T>A ZRS), (PMID: 19847792 Wieczorek et al. (2010) - 2 cases with variants 404G>A and 404G>C ZRS), (PMID: 24965254 Norbnop et al. (2014) - 2 cases, one familial and one sporadic with 406A>G and 404G>A ZRS variants), (PMID: 24777739 - VanderMeer et al. (2014) - 1 case - 5 generation family with a c.402C->T variant (A more severely affected daughter was homozygous for the same mutation)). Other cases listed in OMIM. PMID: 28127823 - Xiang et al 2017 - report 6/102 of patients with preaxial polydactyly type I with variants in a region upstream of the ZRS. Reports of duplications covering parts of the ZRS also being associated with a limb phenotype. PMID: 19847792 - Wieczorek et al. (2010) - report 2 families (families 3 and 4) with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 18178630 - Klopocki et al 2008 - report a large 4-generation pedigree with variable triphalangeal thumb and polysyndactyly, No point mutations found in the LMBR1 gene but array CGH analysis identified a heterozygous 589-kb duplication comprising the ZRS. PMID: 18417549 - Sun et al 2009 - in 6 Han Chinese families with Triphalangeal thumb-polysyndactyly syndrome they identified duplications of ZRS which segregated with the limb phenotypes in all families. PMID: 19291772 - Wu et al 2009 - in a Chinese family with type IV syndactyly and tibial hypoplasia they detected a duplication of between 105 to 115 kb. PMID: 24456159 - Lohan et al 2104 - report on 5 unrelated families with overlapping microduplications encompassing the ZPA regulatory sequence. Larger duplications of the ZRS region (>80 kb) are associated with Haas-type polysyndactyly, whereas smaller duplications (<80 kb) result in a Laurin-Sandrow syndrome phenotype. Summary: > 3 cases where SNVs in the ZRS are found in patients with polydactyly. In >3 cases duplications covering parts of the ZRS were found in patients with a limb phenotype. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green.; to: Variants within LMBR1 coding sequence: PMID:11090342 - Ianakiev et al - 2001- found a genomic 4- to 6-kb deletion in LMBR1 in 5 unrelated Brazilian families with acheiropody. The deletion led to a trascript lacking exon 4 and introducing a premature stop codon downstream of exon 3. Haplotype analysis confirmed the expectation that a single common ancestral mutation was the cause of all the cases. PMID: 26749485 - Shamseldin et al 2016 - patient with acheiropodia who had a nullizygous deletion of 102 kb spanning LMBR1. The ZRS (zone of polarizing activity regulatory sequence) is a sonic hedgehog (SHH) regulatory region of approx 800bp. It is not thought to affect the expression LMBR1. Variants and duplications affecting the ZRS within intron 5 of the LMBR1 gene: Numerous reports of heterozygous variants in ZRS being associated with preaxial polydactyly/Werner mesomelic syndrome - (PMID: 31395945 - Xu et al 2019 - 1 case, 446T>A ZRS), (PMID: 19847792 Wieczorek et al. (2010) - 2 cases with variants 404G>A and 404G>C ZRS), (PMID: 24965254 Norbnop et al. (2014) - 2 cases, one familial and one sporadic with 406A>G and 404G>A ZRS variants), (PMID: 24777739 - VanderMeer et al. (2014) - 1 case - 5 generation family with a c.402C->T variant (A more severely affected daughter was homozygous for the same mutation)). Other cases listed in OMIM. PMID: 28127823 - Xiang et al 2017 - report 6/102 of patients with preaxial polydactyly type I with variants in a region upstream of the ZRS. Reports of duplications covering parts of the ZRS also being associated with a limb phenotype. PMID: 19847792 - Wieczorek et al. (2010) - report 2 families (families 3 and 4) with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 18178630 - Klopocki et al 2008 - report a large 4-generation pedigree with variable triphalangeal thumb and polysyndactyly, No point mutations found in the LMBR1 gene but array CGH analysis identified a heterozygous 589-kb duplication comprising the ZRS. PMID: 18417549 - Sun et al 2009 - in 6 Han Chinese families with Triphalangeal thumb-polysyndactyly syndrome they identified duplications of ZRS which segregated with the limb phenotypes in all families. PMID: 19291772 - Wu et al 2009 - in a Chinese family with type IV syndactyly and tibial hypoplasia they detected a duplication of between 105 to 115 kb. PMID: 24456159 - Lohan et al 2104 - report on 5 unrelated families with overlapping microduplications encompassing the ZPA regulatory sequence. Larger duplications of the ZRS region (>80 kb) are associated with Haas-type polysyndactyly, whereas smaller duplications (<80 kb) result in a Laurin-Sandrow syndrome phenotype. Summary: > 3 cases where SNVs in the ZRS are found in patients with polydactyly. In >3 cases duplications covering parts of the ZRS were found in patients with a limb phenotype. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green. |
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Limb disorders v1.127 | LMBR1 |
Eleanor Williams changed review comment from: Variants within LMBR1 coding sequence: PMID:11090342 - Ianakiev et al - 2001- found a genomic 4- to 6-kb deletion in LMBR1 in 5 unrelated Brazilian families with acheiropody. The deletion led to a trascript lacking exon 4 and introducing a premature stop codon downstream of exon 3. Haplotype analysis confirmed the expectation that a single common ancestral mutation was the cause of all the cases. PMID: 26749485 - Shamseldin et al 2016 - patient with acheiropodia who had a nullizygous deletion of 102 kb spanning LMBR1. The ZRS is a sonic hedgehog (SHH) regulatory region of approx 800bp. It is not thought to affect the expression LMBR1. Variants and duplications affecting the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene: Numerous reports of heterozygous variants in ZRS being associated with preaxial polydactyly/Werner mesomelic syndrome - (PMID: 31395945 - Xu et al 2019 - 1 case, 446T>A ZRS), (PMID: 19847792 Wieczorek et al. (2010) - 2 cases with variants 404G>A and 404G>C ZRS), (PMID: 24965254 Norbnop et al. (2014) - 2 cases, one familial and one sporadic with 406A>G and 404G>A ZRS variants), (PMID: 24777739 - VanderMeer et al. (2014) - 1 case - 5 generation family with a c.402C->T variant (A more severely affected daughter was homozygous for the same mutation)). Other cases listed in OMIM. PMID: 28127823 - Xiang et al 2017 - report 6/102 of patients with preaxial polydactyly type I with variants in a region upstream of the ZRS. Reports of duplications covering parts of the ZRS also being associated with a limb phenotype. PMID: 19847792 - Wieczorek et al. (2010) - report 2 families (families 3 and 4) with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 18178630 - Klopocki et al 2008 - report a large 4-generation pedigree with variable triphalangeal thumb and polysyndactyly, No point mutations found in the LMBR1 gene but array CGH analysis identified a heterozygous 589-kb duplication comprising the ZRS. PMID: 18417549 - Sun et al 2009 - in 6 Han Chinese families with Triphalangeal thumb-polysyndactyly syndrome they identified duplications of ZRS which segregated with the limb phenotypes in all families. PMID: 19291772 - Wu et al 2009 - in a Chinese family with type IV syndactyly and tibial hypoplasia they detected a duplication of between 105 to 115 kb. Summary: > 3 cases where SNVs in the ZRS are found in patients with polydactyly. In >3 cases duplications covering parts of the ZRS were found in patients with a limb phenotype. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green.; to: Variants within LMBR1 coding sequence: PMID:11090342 - Ianakiev et al - 2001- found a genomic 4- to 6-kb deletion in LMBR1 in 5 unrelated Brazilian families with acheiropody. The deletion led to a trascript lacking exon 4 and introducing a premature stop codon downstream of exon 3. Haplotype analysis confirmed the expectation that a single common ancestral mutation was the cause of all the cases. PMID: 26749485 - Shamseldin et al 2016 - patient with acheiropodia who had a nullizygous deletion of 102 kb spanning LMBR1. The ZRS is a sonic hedgehog (SHH) regulatory region of approx 800bp. It is not thought to affect the expression LMBR1. Variants and duplications affecting the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene: Numerous reports of heterozygous variants in ZRS being associated with preaxial polydactyly/Werner mesomelic syndrome - (PMID: 31395945 - Xu et al 2019 - 1 case, 446T>A ZRS), (PMID: 19847792 Wieczorek et al. (2010) - 2 cases with variants 404G>A and 404G>C ZRS), (PMID: 24965254 Norbnop et al. (2014) - 2 cases, one familial and one sporadic with 406A>G and 404G>A ZRS variants), (PMID: 24777739 - VanderMeer et al. (2014) - 1 case - 5 generation family with a c.402C->T variant (A more severely affected daughter was homozygous for the same mutation)). Other cases listed in OMIM. PMID: 28127823 - Xiang et al 2017 - report 6/102 of patients with preaxial polydactyly type I with variants in a region upstream of the ZRS. Reports of duplications covering parts of the ZRS also being associated with a limb phenotype. PMID: 19847792 - Wieczorek et al. (2010) - report 2 families (families 3 and 4) with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 18178630 - Klopocki et al 2008 - report a large 4-generation pedigree with variable triphalangeal thumb and polysyndactyly, No point mutations found in the LMBR1 gene but array CGH analysis identified a heterozygous 589-kb duplication comprising the ZRS. PMID: 18417549 - Sun et al 2009 - in 6 Han Chinese families with Triphalangeal thumb-polysyndactyly syndrome they identified duplications of ZRS which segregated with the limb phenotypes in all families. PMID: 19291772 - Wu et al 2009 - in a Chinese family with type IV syndactyly and tibial hypoplasia they detected a duplication of between 105 to 115 kb. PMID: 24456159 - Lohan et al 2104 - report on 5 unrelated families with overlapping microduplications encompassing the ZPA regulatory sequence. Larger duplications of the ZRS region (>80 kb) are associated with Haas-type polysyndactyly, whereas smaller duplications (<80 kb) result in a Laurin-Sandrow syndrome phenotype. Summary: > 3 cases where SNVs in the ZRS are found in patients with polydactyly. In >3 cases duplications covering parts of the ZRS were found in patients with a limb phenotype. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green. |
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Limb disorders v1.127 | SHH | Eleanor Williams changed review comment from: Variants and duplications in the ZRS region within intron LMBR1 which affect the expression of SHH have been reviewed in gene LMBR1 on this panel.; to: Variants and duplications in the regulatory ZRS region within intron LMBR1 which affect the expression of SHH have been reviewed in gene LMBR1 on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | SHH | Eleanor Williams commented on gene: SHH: Variants and duplications in the ZRS region within intron LMBR1 which affect the expression of SHH have been reviewed in gene LMBR1 on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | LMBR1 |
Eleanor Williams changed review comment from: Variants within the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are thought to lead to Preaxial polydactyly. The ZRS is a sonic hedgehog (SHH) regulatory region. It is not thought to affect the expression LMBR1. PMID: 31395945 - Xu et al 2019 - large 4 generation family with isolated preaxial polydactyly. A novel 446T>A ZRS) variant segregates with all PPD I–affected individuals. A knockin mouse with this ZRS variant exhibited PPD I phenotype accompanying ectopic and excess expression of Shh. PMID: 19847792 Wieczorek et al. (2010) - report 2 families (Turkish and Brazilian) with Werner mesomelic syndrome (hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet ) with variants in the ZRS region (404G>A and 404G>C). Two other families (families 3 and 4) were reported with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 24965254 Norbnop et al. (2014) - report 2 Thai cases of Werner mesomelic syndrome, one familial with a heterozygous 406A>G variant in the ZRS and one sporadic with a heterozygous 404G>A ZRS mutation. PMID: 24777739 - VanderMeer et al. (2014) - large 5-generation Mexican kindred where affect individuals (with isolated triphalangeal thumb, or preaxial polydactyly with triphalangeal thumbs) were heterozygous for a c.402C->T variant in ZRS region of LMBR1. A more severely affected daughter was homozygous for the same mutation. Summary: > 3 cases where variants in the ZRS are found in patients with polydactyly. In 2 cases duplications covering parts of the ZRS were found in patients with polydactyly. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green.; to: Variants within LMBR1 coding sequence: PMID:11090342 - Ianakiev et al - 2001- found a genomic 4- to 6-kb deletion in LMBR1 in 5 unrelated Brazilian families with acheiropody. The deletion led to a trascript lacking exon 4 and introducing a premature stop codon downstream of exon 3. Haplotype analysis confirmed the expectation that a single common ancestral mutation was the cause of all the cases. PMID: 26749485 - Shamseldin et al 2016 - patient with acheiropodia who had a nullizygous deletion of 102 kb spanning LMBR1. The ZRS is a sonic hedgehog (SHH) regulatory region of approx 800bp. It is not thought to affect the expression LMBR1. Variants and duplications affecting the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene: Numerous reports of heterozygous variants in ZRS being associated with preaxial polydactyly/Werner mesomelic syndrome - (PMID: 31395945 - Xu et al 2019 - 1 case, 446T>A ZRS), (PMID: 19847792 Wieczorek et al. (2010) - 2 cases with variants 404G>A and 404G>C ZRS), (PMID: 24965254 Norbnop et al. (2014) - 2 cases, one familial and one sporadic with 406A>G and 404G>A ZRS variants), (PMID: 24777739 - VanderMeer et al. (2014) - 1 case - 5 generation family with a c.402C->T variant (A more severely affected daughter was homozygous for the same mutation)). Other cases listed in OMIM. PMID: 28127823 - Xiang et al 2017 - report 6/102 of patients with preaxial polydactyly type I with variants in a region upstream of the ZRS. Reports of duplications covering parts of the ZRS also being associated with a limb phenotype. PMID: 19847792 - Wieczorek et al. (2010) - report 2 families (families 3 and 4) with duplications (73-kb and 276-kb) affecting the ZRS region. Members of family 3 had Haas type polysyndactyly and family 4 had triphalangeal thumb-polysyndactyly syndrome. PMID: 18178630 - Klopocki et al 2008 - report a large 4-generation pedigree with variable triphalangeal thumb and polysyndactyly, No point mutations found in the LMBR1 gene but array CGH analysis identified a heterozygous 589-kb duplication comprising the ZRS. PMID: 18417549 - Sun et al 2009 - in 6 Han Chinese families with Triphalangeal thumb-polysyndactyly syndrome they identified duplications of ZRS which segregated with the limb phenotypes in all families. PMID: 19291772 - Wu et al 2009 - in a Chinese family with type IV syndactyly and tibial hypoplasia they detected a duplication of between 105 to 115 kb. Summary: > 3 cases where SNVs in the ZRS are found in patients with polydactyly. In >3 cases duplications covering parts of the ZRS were found in patients with a limb phenotype. Currently variants in the ZRS would NOT be reported via WGS. Duplications > 10Kb covering the LMBR1 gene would be picked up as the gene is green. |
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Limb disorders v1.127 | LMBR1 | Eleanor Williams commented on gene: LMBR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | SMAD6 | Eleanor Williams Classified gene: SMAD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.127 | SMAD6 |
Eleanor Williams Added comment: Comment on list classification: Promoting from red to green. Notes from Genomics England clinical team - Sufficient cases, scope of panel includes radial anomalies therefore potentially informative for some patients. Note reduced penetrance. |
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Limb disorders v1.127 | SMAD6 | Eleanor Williams Gene: smad6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.126 | FAM92A |
Eleanor Williams changed review comment from: Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM. PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A. By exome sequencing they identified a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene in one child. Sanger sequencing confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. It is predicted to be targeted by the classical nonsense-mediated decay pathway. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri.; to: Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM. PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A with a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene. It was confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. |
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Limb disorders v1.126 | FAM92A |
Eleanor Williams changed review comment from: Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM. PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A. Blood was taken from 3 affected and 3 non-affected idividuals. DNA from one child was used for exome sequencing and revealed a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene. Sanger sequencing confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. It is predicted to be targeted by the classical nonsense-mediated decay pathway. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. In 3 Pakistani brothers with postaxial polydactyly type A9 (PAPA9; 618219), identified homozygosity for a nonsense mutation in the FAM92A gene (R160X; 617273.0001) that segregated with disease and was not found in 186 Pakistani controls. ▼ Animal Model Schrauwen et al. (2018) generated Fam92a -/- mice and observed extra bone growth or exostosis on the deltoid tuberosity of the humerus, consistent with tendon calcification. Abnormal digit morphology was significantly enriched in the mutant mice compared to controls, and included polysyndactyly and osteomas; to: Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM. PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A. By exome sequencing they identified a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene in one child. Sanger sequencing confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. It is predicted to be targeted by the classical nonsense-mediated decay pathway. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. |
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Limb disorders v1.126 | POLR1A | Eleanor Williams Classified gene: POLR1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.126 | POLR1A | Eleanor Williams Added comment: Comment on list classification: 2 cases with a limb phenotype therefore rating amber. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.126 | POLR1A | Eleanor Williams Gene: polr1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.125 | POLR1A | Eleanor Williams Publications for gene: POLR1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.124 | POLR1A | Eleanor Williams Phenotypes for gene: POLR1A were changed from to Acrofacial dysostosis, Cincinnati type, 616462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.123 | GZF1 | Eleanor Williams Classified gene: GZF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.123 | GZF1 | Eleanor Williams Added comment: Comment on list classification: Keeping red. Genomics England clinical team note this is not a particularly limb-predominant phenotype, and is better suited to the skeletal dysplasia/Stickler syndrome panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.123 | GZF1 | Eleanor Williams Gene: gzf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.122 | SUFU | Eleanor Williams Classified gene: SUFU as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.122 | SUFU | Eleanor Williams Added comment: Comment on list classification: 3 out of 4 children from 2 families had post-axial polydactyly so rating amber. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.122 | SUFU | Eleanor Williams Gene: sufu has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.121 | TRAF7 | Eleanor Williams changed review comment from: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber.; to: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber. Green on Intellectual disability, fetal anomalies, DDG2P panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.121 | TRAF7 | Eleanor Williams Classified gene: TRAF7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.121 | TRAF7 | Eleanor Williams Added comment: Comment on list classification: From Genomics England clinical team - there is evidence of a gene:disease association, however the reported limb differences (distal contractures, altered creases or overlapping digits) do not particularly align with the clinical indication for this panel. One subject in the paper has quite marked radial / ulnar directional deformities of the digits though, therefore amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.121 | TRAF7 | Eleanor Williams Gene: traf7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.120 | NXN | Eleanor Williams Tag watchlist tag was added to gene: NXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.120 | NXN | Eleanor Williams Classified gene: NXN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.120 | NXN | Eleanor Williams Added comment: Comment on list classification: Only two unrelated families to date so amber rating - agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.120 | NXN | Eleanor Williams Gene: nxn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.119 | NXN | Eleanor Williams Phenotypes for gene: NXN were changed from Robinow syndrome to Robinow syndrome, autosomal recessive 2, 618529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | NXN | Eleanor Williams commented on gene: NXN: Now associated with Robinow syndrome, autosomal recessive 2 #618529 (AR) in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Classified gene: FZD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Added comment: Comment on list classification: 4 families, three with brachydactyly and variable presence of other features (clinodactyly, camptodactyly, broad 1st digits). Genomics England clinical team confirm it is appropriate for the limb disorders panel as well as the skeletal dysplasia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.118 | FZD2 | Eleanor Williams Gene: fzd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.117 | ASXL1 | Eleanor Williams Classified gene: ASXL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.117 | ASXL1 | Eleanor Williams Added comment: Comment on list classification: Severe multisystem presentation but various limb disorders are reported including rhizomelia, abnormal flexion at the elbow and wrist, syndactyly and camptodactyly. Green rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.117 | ASXL1 | Eleanor Williams Gene: asxl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.116 | PAX3 | Eleanor Williams Classified gene: PAX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.116 | PAX3 | Eleanor Williams Added comment: Comment on list classification: At least two, possibly three, cases and a mouse model. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.116 | PAX3 | Eleanor Williams Gene: pax3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.115 | PAX3 | Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic cases show stronger evidence of limb phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.115 | PAX3 | Eleanor Williams Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.114 | EIF4A3 |
Eleanor Williams commented on gene: EIF4A3: PMID: 10594883 - Walter-Nicolet et al 1999 - report a French boy with phenotype similar to Richieri-Costa and Pereira form of acrofacial dysostosis but no genome analysis done. PMID: 29112243 - Bertola et al 2018 - describe 5 (4 Brasilian, one from England, of African ancestry) new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. The patient from England/Kenya showed limb abnormalities of Hypoplastic hallux and club feet only. Expansions of the repeated motif in the 5′ UTR of EIF4A3 were found in all individuals and ranged from 14 to 16 repeats. |
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Limb disorders v1.114 | EIF4A3 | Eleanor Williams Classified gene: EIF4A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.114 | EIF4A3 | Eleanor Williams Added comment: Comment on list classification: Relevant phenotype, however potential founder effect in the Brazilian population described to date. Further evidence needed therefore rating amber. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.114 | EIF4A3 | Eleanor Williams Gene: eif4a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.113 | CYP26B1 | Eleanor Williams Classified gene: CYP26B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.113 | CYP26B1 | Eleanor Williams Added comment: Comment on list classification: Two families reported to date, one of which had oligodactyly. Further evidence needed before making green. Rating agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.113 | CYP26B1 | Eleanor Williams Gene: cyp26b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.112 | ZSWIM6 |
Eleanor Williams changed review comment from: Comment on list classification: Recurrent missense (R1163W) is associated with acromelic frontonasal dysostosis, where relevant limb features are reported. 4 unrelated cases.; to: Comment on list classification: Recurrent missense (R1163W) is associated with acromelic frontonasal dysostosis, where relevant limb features are reported. 4 unrelated cases. Gene is also on the skeletal ciliopathies panel but including here to avoid missing a potential diagnosis in the Genomic Medicine Service. |
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Limb disorders v1.112 | ZSWIM6 | Eleanor Williams Classified gene: ZSWIM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.112 | ZSWIM6 | Eleanor Williams Added comment: Comment on list classification: Recurrent missense (R1163W) is associated with acromelic frontonasal dysostosis, where relevant limb features are reported. 4 unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.112 | ZSWIM6 | Eleanor Williams Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.111 | EFNB1 | Eleanor Williams Classified gene: EFNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.111 | EFNB1 | Eleanor Williams Added comment: Comment on list classification: Clear gene:disease association but relatively minor / non-specific digital features. Rating amber based on advice from Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.111 | EFNB1 | Eleanor Williams Gene: efnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.110 | TRIM32 | Eleanor Williams commented on gene: TRIM32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.110 | IFT74 |
Eleanor Williams gene: IFT74 was added gene: IFT74 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20 617119 Review for gene: IFT74 was set to RED Added comment: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Only 1 case reported plus animal model. Sources: Expert list |
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Limb disorders v1.109 | CEP290 | Eleanor Williams Classified gene: CEP290 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.109 | CEP290 | Eleanor Williams Added comment: Comment on list classification: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.109 | CEP290 | Eleanor Williams Gene: cep290 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.108 | CCDC28B |
Eleanor Williams gene: CCDC28B was added gene: CCDC28B was added to Limb disorders. Sources: Literature Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900 Review for gene: CCDC28B was set to RED Added comment: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Modifier gene Sources: Literature |
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Limb disorders v1.107 | C8orf37 |
Eleanor Williams gene: C8orf37 was added gene: C8orf37 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 27008867; 26854863 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406 Review for gene: C8orf37 was set to RED Added comment: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). 2 cases reported. Sources: Expert list |
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Limb disorders v1.106 | BBIP1 |
Eleanor Williams gene: BBIP1 was added gene: BBIP1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985 Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995 Added comment: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Only 1 case reported. Sources: Expert list |
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Limb disorders v1.105 | TTC8 | Eleanor Williams Classified gene: TTC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.105 | TTC8 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.105 | TTC8 | Eleanor Williams Gene: ttc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | WDPCP | Eleanor Williams changed review comment from: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. This gene is amber on the GMS Bardet-Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/; to: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. This gene is amber on the GMS Bardet-Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | IFT27 | Eleanor Williams changed review comment from: This gene is amber on the GMS Bardet Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/; to: This gene is amber on the GMS Bardet Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | IFT27 | Eleanor Williams commented on gene: IFT27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | WDPCP | Eleanor Williams Classified gene: WDPCP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | WDPCP | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. This gene is amber on the GMS Bardet-Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.104 | WDPCP | Eleanor Williams Gene: wdpcp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.103 | WDPCP | Eleanor Williams Phenotypes for gene: WDPCP were changed from ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; ?Bardet-Biedl syndrome 15, 615992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.102 | TTC8 | Eleanor Williams Phenotypes for gene: TTC8 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 8, 615985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.101 | TTC8 | Eleanor Williams Mode of inheritance for gene: TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.100 | TMEM67 | Eleanor Williams Classified gene: TMEM67 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.100 | TMEM67 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.100 | TMEM67 | Eleanor Williams Gene: tmem67 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.99 | SDCCAG8 | Eleanor Williams Classified gene: SDCCAG8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.99 | SDCCAG8 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.99 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.98 | SDCCAG8 | Eleanor Williams Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.97 | SDCCAG8 | Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Polydactyly to Polydactyly; Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.96 | MKS1 | Eleanor Williams Classified gene: MKS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.96 | MKS1 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.96 | MKS1 | Eleanor Williams Gene: mks1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.95 | MKS1 | Eleanor Williams Phenotypes for gene: MKS1 were changed from Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000; Polydactyly to Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000; Joubert syndrome 28, 617121; Polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.94 | MKKS | Eleanor Williams Classified gene: MKKS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.94 | MKKS | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.94 | MKKS | Eleanor Williams Gene: mkks has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.93 | MKKS | Eleanor Williams Phenotypes for gene: MKKS were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.92 | MKKS | Eleanor Williams Mode of inheritance for gene: MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.91 | LZTFL1 | Eleanor Williams Classified gene: LZTFL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.91 | LZTFL1 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.91 | LZTFL1 | Eleanor Williams Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.90 | BBS9 | Eleanor Williams Classified gene: BBS9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.90 | BBS9 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.90 | BBS9 | Eleanor Williams Gene: bbs9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.89 | BBS9 | Eleanor Williams Mode of pathogenicity for gene: BBS9 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.88 | BBS9 | Eleanor Williams Phenotypes for gene: BBS9 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 9, 615986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.87 | BBS9 | Eleanor Williams Mode of inheritance for gene: BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.86 | BBS7 | Eleanor Williams Classified gene: BBS7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.86 | BBS7 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.86 | BBS7 | Eleanor Williams Gene: bbs7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.85 | BBS7 | Eleanor Williams Phenotypes for gene: BBS7 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 7, 615984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.84 | BBS7 | Eleanor Williams Mode of inheritance for gene: BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.83 | BBS5 | Eleanor Williams Classified gene: BBS5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.83 | BBS5 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.83 | BBS5 | Eleanor Williams Gene: bbs5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.82 | BBS5 | Eleanor Williams Phenotypes for gene: BBS5 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 5, 615983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.81 | BBS5 | Eleanor Williams Mode of inheritance for gene: BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.80 | BBS4 | Eleanor Williams Classified gene: BBS4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.80 | BBS4 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.80 | BBS4 | Eleanor Williams Gene: bbs4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.79 | BBS4 | Eleanor Williams Phenotypes for gene: BBS4 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 4, 615982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.78 | BBS4 | Eleanor Williams Mode of inheritance for gene: BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.77 | BBS2 | Eleanor Williams Classified gene: BBS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.77 | BBS2 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.77 | BBS2 | Eleanor Williams Gene: bbs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.76 | BBS2 | Eleanor Williams Phenotypes for gene: BBS2 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 2, 615981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.75 | BBS2 | Eleanor Williams Mode of inheritance for gene: BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.74 | BBS12 | Eleanor Williams Classified gene: BBS12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.74 | BBS12 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.74 | BBS12 | Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.73 | BBS12 | Eleanor Williams Phenotypes for gene: BBS12 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 12, 615989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.72 | BBS12 | Eleanor Williams Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.71 | BBS10 | Eleanor Williams Classified gene: BBS10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.71 | BBS10 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.71 | BBS10 | Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.70 | BBS10 | Eleanor Williams Phenotypes for gene: BBS10 were changed from Polydactyly to Polydactyly; Bardet Biedl syndrome 10, 615987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.69 | BBS10 | Eleanor Williams Mode of inheritance for gene: BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.68 | BBS1 | Eleanor Williams Classified gene: BBS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.68 | BBS1 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.68 | BBS1 | Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.67 | BBS1 | Eleanor Williams Phenotypes for gene: BBS1 were changed from Polydactyly; Bardet-Biedl syndrome 1209900 to Polydactyly; Bardet-Biedl syndrome 1 209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.66 | ARL6 | Eleanor Williams Classified gene: ARL6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.66 | ARL6 | Eleanor Williams Added comment: Comment on list classification: The Bardet-Biedl syndrome genes are being added back to this panel to avoid missing a potential diagnosis in the Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.66 | ARL6 | Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.65 | TGDS | Eleanor Williams Classified gene: TGDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.65 | TGDS | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases reported with variants in this gene and limb defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.65 | TGDS | Eleanor Williams Gene: tgds has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.64 | TGDS |
Eleanor Williams changed review comment from: Associated with Catel-Manzke syndrome #616145 (AR) in OMIM. PMID: 25480037 - Ehmke et al 2014 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. They identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction they showed that the mutation c.298G>T is probably a founder mutation. 1 patient showed short toes, short humeri, short femora, 3 had clinodactyly V and 1 had brachymetacarpia and scoliosis. PMID: 26366375 - Pferdehirt et al 2015 - describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy. This patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. He has a homozygous p.Ala100Ser pathogenic variant. Both parents are heterozygous for this variant. PMID: 28422407 - Schoner et al 2017 - report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. Two compound heterozygous mutations in TGDS were found: c.298G>T; p.(Ala100Ser) and c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. ; to: Associated with Catel-Manzke syndrome #616145 (AR) in OMIM. PMID: 25480037 - Ehmke et al 2014 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. They identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction they showed that the mutation c.298G>T is probably a founder mutation. 1 patient showed short toes, short humeri, short femora, 3 had clinodactyly V and 1 had brachymetacarpia and scoliosis. PMID: 26366375 - Pferdehirt et al 2015 - describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy. This patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. He has a homozygous p.Ala100Ser pathogenic variant. Both parents are heterozygous for this variant. PMID: 28422407 - Schoner et al 2017 - report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. Two compound heterozygous mutations in TGDS were found: c.298G>T; p.(Ala100Ser) and c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. Analyses of the parents’ blood DNA confirmed biparental inheritance. |
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Limb disorders v1.64 | TGDS |
Eleanor Williams changed review comment from: Associated with Catel-Manzke syndrome #616145 (AR) in OMIM. PMID: 25480037 - Ehmke et al 2014 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. They identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction they showed that the mutation c.298G>T is probably a founder mutation Sources: Literature; to: Associated with Catel-Manzke syndrome #616145 (AR) in OMIM. PMID: 25480037 - Ehmke et al 2014 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. They identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction they showed that the mutation c.298G>T is probably a founder mutation. 1 patient showed short toes, short humeri, short femora, 3 had clinodactyly V and 1 had brachymetacarpia and scoliosis. PMID: 26366375 - Pferdehirt et al 2015 - describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy. This patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. He has a homozygous p.Ala100Ser pathogenic variant. Both parents are heterozygous for this variant. PMID: 28422407 - Schoner et al 2017 - report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. Two compound heterozygous mutations in TGDS were found: c.298G>T; p.(Ala100Ser) and c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. |
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Limb disorders v1.64 | TGDS |
Eleanor Williams gene: TGDS was added gene: TGDS was added to Limb disorders. Sources: Literature Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGDS were set to 25480037 Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145 Review for gene: TGDS was set to GREEN Added comment: Associated with Catel-Manzke syndrome #616145 (AR) in OMIM. PMID: 25480037 - Ehmke et al 2014 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. They identified homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction they showed that the mutation c.298G>T is probably a founder mutation Sources: Literature |
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Limb disorders v1.63 | THPO | Eleanor Williams Classified gene: THPO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.63 | THPO | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. Two cases of Thrombocythemia with limb defects and variants in THPO reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.63 | THPO | Eleanor Williams Gene: thpo has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.62 | THPO |
Eleanor Williams gene: THPO was added gene: THPO was added to Limb disorders. Sources: Literature Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: THPO were set to 19553636; 22453305 Phenotypes for gene: THPO were set to Thrombocythemia 1, 187950 Review for gene: THPO was set to AMBER Added comment: Associated with Thrombocythemia 1 #187950 (AD) in OMIM. PMID: 19553636 - Graziano et al 2009 - report where the father has thrombocythemia and limb defects (absence of forearm and hand, absence of foot). Two sons had milder lower limb defects. A G185T heterozygous mutation was detected in THPO. The grandfather was found to have the variant and had thrombocythemia but no limb defect. PMID: 22453305 - Stockklausner et al 2012 - report two families with Hereditary thrombocythemia resulting from a THPO c.13+1 G>C mutation in the splice donor of intron 3. In one family there were coexisting distal limb defects in 2 out of 4 individuals with thrombocythemia (complex limb defects of the left hand in one individual, and absent proximal, middle, and distal phalanges at digits 3–5, a dysplastic proximal phalanx at digit 2 with absent middle and distal phalanx and shortened metacarpal bones at digits 3 and 4, carpal bones were partly fused to metacarpal bones at digits 2–5 in the other). Two cases reported with a limb defect and no clear wider skeletal phenotype. Sources: Literature |
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Limb disorders v1.61 | HDAC4 | Eleanor Williams Classified gene: HDAC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.61 | HDAC4 | Eleanor Williams Added comment: Comment on list classification: Changing rating from green to amber, as there are only 2 cases where patients with variants in this gene have a reported brachydactyly phenotype. But the CNV covering this region has been added to the panel - ISCA-37394-Loss (2q37.3 terminal region (includes HDAC4) Loss) as there is more evidence that loss of the region results in a relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.61 | HDAC4 | Eleanor Williams Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.60 | ISCA-37394-Loss | Eleanor Williams Classified Region: ISCA-37394-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.60 | ISCA-37394-Loss | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Sufficient evidence that CNVs covering this region (HDAC4 in particular) result in a brachydactyly phenotype (PMID: 25329715, PMID: 24715439, PMID: 25402011) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.60 | ISCA-37394-Loss | Eleanor Williams Region: isca-37394-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.59 | ISCA-37394-Loss |
Eleanor Williams Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Limb disorders. Sources: ClinGen Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430 Review for Region: ISCA-37394-Loss was set to GREEN Added comment: Adding this CNV as is associated with brachydactyly. The CNV is also on the skeletal dsyplasia panel Sources: ClinGen |
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Limb disorders v1.58 | ICK | Eleanor Williams commented on gene: ICK: Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | ICK | Eleanor Williams Tag new-gene-name tag was added to gene: ICK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | EIF4A3 |
Eleanor Williams commented on gene: EIF4A3: Associated with Robin sequence with cleft mandible and limb anomalies (#268305) in OMIM and RICHIERI-COSTA-PEREIRA SYNDROME in Gene2Phenotype (confirmed, 5_prime or 3_prime UTR mutation). PMID: 24360810 - Favaro et al. 2014 - found in Brazilian families with RCPS 17 affected probands were homozygous for the 16-repeat allele in the 5 prime UTR of EIF4A3, and 3 apparently unrelated affected individuals were compound heterozygotes (15 or 16 repeats). All tested parents were heterozygous for the 16-repeat allele, and unaffected siblings either lacked the expanded allele or were heterozygotes. The 15- and 16-repeat allele haplotypes spanning EIF4A3 are consistent with a common origin and corroborate their previous founder effect hypothesis for most Brazilian RCPS-affected individuals. Sequencing of EIF4A3 in five additional Brazilian affected individuals ascertained elsewhererevealed that four of them (, including 2 siblings) were homozygous for the 16-repeat allele. In contrast, the fifth (individual 25) was a compound heterozygote, possessing a 14-repeat allele in trans with a nucleotide change, c.809A>G, p.Asp270Gly. the c.809A>G mutation is embedded in a distinct haplotype, suggesting multiple pathogenic mutational origins in EIF4A3. EIF4A3 transcript abundance was about 30%–40% lower in affected individuals than in controls in both cell types tested. Zebrafish morpholinos show underdevelopment of craniofacial cartilage, bone alterations, and clefting of the lower jaw. |
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Limb disorders v1.58 | NCAPG2 | Eleanor Williams Classified gene: NCAPG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | NCAPG2 | Eleanor Williams Added comment: Comment on list classification: 2 cases. Zebra fish model does not show limb phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.58 | NCAPG2 | Eleanor Williams Gene: ncapg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.57 | LBR | Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.57 | LBR | Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.56 | EPHA4 |
Eleanor Williams commented on gene: EPHA4: EPHA4 not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 25959774 - Lupiáñez et al 2015 - studied limb abnormalities in 3 sets of families: Group 1 - 3 unrelated families with a dominantly inherited novel type of brachydactyly, characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. aCGH revealed heterozygous deletions of 1.75–1.9 Mb on chromosome 2q35–36 in all three affected families. All three deletions include the EPHA4 gene along with a large portion of its surrounding TAD and extend into the non-coding part of the adjacent PAX3 TAD (topologically associated domain), thereby removing the predicted boundary between the EPHA4 and PAX3 TADs. Mutant mice with a deletion corresponding to the human disease alleles recapitulated the phenotype observed in patients. Group 2 - 2 unrelated families with F-syndrome, a limb malformation syndrome characterized by severe and complex syndactyly, often involving the first and second fingers, and polydactyly of the feet. By whole genome sequencing they detected a ~1.1 Mb heterozygous inversion in family F1 and a ~1.4 Mb heterozygous duplication, arranged in direct tandem orientation, in family F2. The telomeric breakpoints were located 1.4 Mb away from the EPHA4 gene within the gene desert in the case of the inversion, and 1.2 Mb in the case of the duplication. Heterozygous as well as homozygous newborn mice generated via tetraploid aggregation died shortly after birth of unknown cause and did not show overt limb phenotypes or other morphological defects Group 3 - a family that carries a heterozygous ~900 kb duplication in chromosomal region 2q35 that results in severe polysyndactyly and craniofacial abnormalities. The phenotype is reminiscent of the doublefoot (Dbf) mouse mutant, which also features massive polysyndactyly and was shown to be caused by a ~600 kb deletion affecting the same region (Babbs et al., 2008) Using 4C-seq they show that In wild-type distal limbs, there was minimal interaction of Pax3, Wnt6 and Ihh with non-coding sequences in the Epha4 TAD. In contrast, all three genes showed substantial interaction with the Epha4 TAD in the mutants. Similar results were found using patient fibroblasts. Genomic re-arrangements in the Epha4 TAD can result in limb abnormalities. It maybe best to represent these as regions of gain or loss in PanelApp |
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Limb disorders v1.56 | SOX9 |
Eleanor Williams commented on gene: SOX9: Associated with Campomelic dysplasia (114290) in OMIM and CAMPOMELIC DYSPLASIA and PIERRE ROBIN SEQUENCE in Gene2Phenotype (both confirmed). Publications relating to the duplications in the region between KCNJ2 and SOX9: PMID: 19639023 - Kurth et al 2009 - investigated four families with symmetric brachydactyly of the hands and feet as well as hyponychia or anonychia. All affected were of normal height and had no other skeletal abnormality. They identified overlapping duplications in a ∼2 Mb interval on chromosome 17q24.3. Comparison of the four duplications revealed a minimal critical region of ∼1.2 Mb encompassing a large gene desert between KCNJ2 and SOX9. In situ hybridizations in mouse embryos, showed that Sox9 was strongly expressed in the distal mesenchymal condensations at embryonic day (E) 12.5 that will later develop into the terminal phalanges and, at a later time point (E17.5), in the anlagen of the developing claw. PMID: 27706140 - Franke et al 2016 - used chromosome conformation capture methods to look at topologically associated domains in patient cells and mouse models where the regulatory region next to SOX9 is duplicated. They generated mice with a duplicated region associated with Cooks syndrome as reported by Kurth et al 2009 (which they call Dup-C). cHi-C of E12.5 Dup-C limb buds showed a new chromatin domain corresponding to the duplicated region. RNA sequencing expression analysis of Dup-C limb buds at E12.5 and E17.5 confirmed the upregulation of Kcnj2, whereas other genes around the locus stayed unchanged, in particular Sox9, but also Kcnj16. Thus, the inclusion of Kcnj2 in the neo-TAD resulted in its activation by regulatory elements that originally belonged to the Sox9 TAD. Other publications. PMID: 21373255 - Corbani et al 2011 - reported patient with SOX9 missense mutation and mild form of campomelic dysplasia. Features include short stature, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head subluxation, hypoplastic scapulae, humeral and ulnar epiphyseal abnormalities, unossified symphysis pubis, and a significant delay in bone age. PMID: 24704791 - Takenouchi et al 2014 - report patient with many features of the type 2 collagen disorder including micrognathia, cleft palate, flat midface, and visual and hearing impairment, and a retarded enchondral ossification of the appendicular skeleton during the infantile period. The patient had in addition severe developmental delay. A de novo heterozygous missense mutation, c.239T>G p.Val80Gly, in exon 1 of SOX9 was found. Summary: Evidence that duplication of a region upstream of SOX9 can result in a brachydactyly phenotype. This appears to be as a result of increased expression of KCNJ2. It maybe most appropriate to add this upstream region as a CNV. |
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Limb disorders v1.56 | SMAD6 | Eleanor Williams commented on gene: SMAD6: Added Incomplete penetrance as Yang et al 2019 found only 20% penetrance for LOF variant carriers. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.56 | SMAD6 | Eleanor Williams Penetrance for gene SMAD6 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.55 | SMAD6 | Eleanor Williams Publications for gene: SMAD6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.54 | SMAD6 | Eleanor Williams Phenotypes for gene: SMAD6 were changed from radioulnar synostosis to radioulnar synostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.54 | SMAD6 | Eleanor Williams Phenotypes for gene: SMAD6 were changed from to radioulnar synostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.53 | SMAD6 |
Eleanor Williams changed review comment from: Not associated with radioulnar synostosis in OMIM or Gene2Phenotype, although is associated with susceptibility to craniosynostosis and Aortic valve disease 2. PMID: 31138930 - Yang et al 2019 - investigated 140 sporadic patients and 11 families with RUS of an unknown cause. Potentially disease causing variants were found in SMAD6 in 30 individuals from 27 families. In 22 individuals the variants were detected by whole exome sequencing and confirmed by Sanger sequencing. In the remaining 8 individuals targetting sequencing of SMAD6 using Sanger sequencing was performed. 27 different variants were identified (19 LOF and 8 missense), in 24 sporadic patients and three families. Parental genomic DNA was available for 11 probands with SMAD6 rare variants. Sanger sequencing validated that four variants were de novo, six were inherited from the probands’ unaffected mother, and one was inherited from the probands’ unaffected father. Reduced penetrance was found - after excluding the index cases, the found 2/10 SMAD6- LOF carriers have nsRUS. Therefore, the penetrance of RUS in SMAD6-LOF cases is reduced (~20%). No significant associations were observed between BMP2-Chr20–7106289T-C genotype and nsRUS in cases with SMAD6 rare variants.; to: Not associated with radioulnar synostosis in OMIM or Gene2Phenotype, although is associated with susceptibility to craniosynostosis and Aortic valve disease 2. PMID: 31138930 - Yang et al 2019 - investigated 140 sporadic patients and 11 families with Radioulnar synostosis (RUS) of an unknown cause. Potentially disease causing variants were found in SMAD6 in 30 individuals from 27 families. In 22 individuals the variants were detected by whole exome sequencing and confirmed by Sanger sequencing. In the remaining 8 individuals targeted Sanger sequencing of SMAD6 was performed. 27 different variants were identified (19 LOF and 8 missense), in 24 sporadic patients and three families. Parental genomic DNA was available for 11 probands with SMAD6 rare variants. Sanger sequencing validated that four variants were de novo, six were inherited from the probands’ unaffected mother, and one was inherited from the probands’ unaffected father. Reduced penetrance was found - after excluding the index cases, the found 2/10 SMAD6- LOF carriers have nsRUS. Therefore, the penetrance of RUS in SMAD6-LOF cases is reduced (~20%). No significant associations were observed between BMP2-Chr20–7106289T-C genotype and nsRUS in cases with SMAD6 rare variants. |
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Limb disorders v1.53 | SMAD6 |
Eleanor Williams commented on gene: SMAD6: Not associated with radioulnar synostosis in OMIM or Gene2Phenotype, although is associated with susceptibility to craniosynostosis and Aortic valve disease 2. PMID: 31138930 - Yang et al 2019 - investigated 140 sporadic patients and 11 families with RUS of an unknown cause. Potentially disease causing variants were found in SMAD6 in 30 individuals from 27 families. In 22 individuals the variants were detected by whole exome sequencing and confirmed by Sanger sequencing. In the remaining 8 individuals targetting sequencing of SMAD6 using Sanger sequencing was performed. 27 different variants were identified (19 LOF and 8 missense), in 24 sporadic patients and three families. Parental genomic DNA was available for 11 probands with SMAD6 rare variants. Sanger sequencing validated that four variants were de novo, six were inherited from the probands’ unaffected mother, and one was inherited from the probands’ unaffected father. Reduced penetrance was found - after excluding the index cases, the found 2/10 SMAD6- LOF carriers have nsRUS. Therefore, the penetrance of RUS in SMAD6-LOF cases is reduced (~20%). No significant associations were observed between BMP2-Chr20–7106289T-C genotype and nsRUS in cases with SMAD6 rare variants. |
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Limb disorders v1.53 | FAM92A | Eleanor Williams Classified gene: FAM92A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.53 | FAM92A | Eleanor Williams Added comment: Comment on list classification: Promoted from red to amber. 1 case plus a mouse knockout showing a similar phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.53 | FAM92A | Eleanor Williams Gene: fam92a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.52 | FAM92A |
Eleanor Williams commented on gene: FAM92A: Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM. PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A. Blood was taken from 3 affected and 3 non-affected idividuals. DNA from one child was used for exome sequencing and revealed a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene. Sanger sequencing confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. It is predicted to be targeted by the classical nonsense-mediated decay pathway. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri. we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Exome sequencing revealed a homozygous nonsense variant (c.478C>T, p.[Arg160*]) in the FAM92A gene within the mapped region on 8q21.13-q24.12 that segregated with the PAPA phenotype. In 3 Pakistani brothers with postaxial polydactyly type A9 (PAPA9; 618219), identified homozygosity for a nonsense mutation in the FAM92A gene (R160X; 617273.0001) that segregated with disease and was not found in 186 Pakistani controls. ▼ Animal Model Schrauwen et al. (2018) generated Fam92a -/- mice and observed extra bone growth or exostosis on the deltoid tuberosity of the humerus, consistent with tendon calcification. Abnormal digit morphology was significantly enriched in the mutant mice compared to controls, and included polysyndactyly and osteomas |
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Limb disorders v1.52 | GLI1 | Eleanor Williams Publications for gene: GLI1 were set to 28973407; 28973407 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.51 | GLI1 | Eleanor Williams Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8, 618123); Polydactyly, preaxial I, 174400 to Polydactyly, postaxial, type A8, 618123; Polydactyly, preaxial I, 174400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.50 | GLI1 | Eleanor Williams Phenotypes for gene: GLI1 were changed from to Polydactyly, postaxial, type A8, 618123); Polydactyly, preaxial I, 174400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.49 | GLI1 | Eleanor Williams changed review comment from: Comment on list classification: >3 cases of variants in GLI1 in families with polydactyly; to: Comment on list classification: Changing rating from red to green. >3 cases of variants in GLI1 in families with polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.49 | GLI1 | Eleanor Williams Classified gene: GLI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.49 | GLI1 | Eleanor Williams Added comment: Comment on list classification: >3 cases of variants in GLI1 in families with polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.49 | GLI1 | Eleanor Williams Gene: gli1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.48 | GLI1 |
Eleanor Williams changed review comment from: Associated with Polydactyly, postaxial, type A8 (#618123) and Polydactyly, preaxial I (#174400) in OMIM. Postaxial Polydactyly Type A8: PMID: 28973407 - Palencia-Campos et al. 2017- 3 cases. They report data from 3 families, 2 Turkish (1 consangineous),1 Pakistani (consangineous) with developmental defects overlapping with Ellis–van Creveld syndrome, including postaxial polydactyly of the hands and/or feet . Homozygous truncating mutations (NM_005269.2: c.2340G > A; p.Trp780*, NM_005269.2: c.1930C > T; p.Gln644*, NM_005269.2: c.337C > T; p.Arg113*) were identified in patients in all 3 families. Note, in the extended members of family 1, one individual is reported with polydactyly but is heterozygous for the p.Trp780* variant and one individual with polydactyly but no p.Trp780* variant is reported (possible different homozygous genetic alteration not detectable by exome sequencing?). Polydactyly, preaxial I: PMID: 30620395 - Ullah et al. 2019 - 1 case. Pakistani family segregating autosomal recessive form of pre‐axial polydactyly. 2 individuals from two parts of the family were sequenced and a novel homozygous missense mutation identified c.1517T>A; p.Leu506Gln) in the GLI1. The variant segregated with the disease phenotype in the family. It was not found in their in‐house exome sequence data from 70 additional unrelated Pakistani individuals with normal limb phenotypes but was found in heterozygous state in the gnomAD browser, with an allele frequency of 0.0002109, but not in homozygous state.; to: Associated with Polydactyly, postaxial, type A8 (#618123) and Polydactyly, preaxial I (#174400) in OMIM. Postaxial Polydactyly Type A8: PMID: 28973407 - Palencia-Campos et al. 2017- 3 cases. They report data from 3 families, 2 Turkish (1 consangineous),1 Pakistani (consangineous) with developmental defects overlapping with Ellis–van Creveld syndrome, including postaxial polydactyly of the hands and/or feet . Homozygous truncating mutations (NM_005269.2: c.2340G > A; p.Trp780*, NM_005269.2: c.1930C > T; p.Gln644*, NM_005269.2: c.337C > T; p.Arg113*) were identified in patients in all 3 families. Note, in the extended members of family 1, one individual is reported with polydactyly but is heterozygous for the p.Trp780* variant (patient 3) and one individual with polydactyly but no p.Trp780* variant is reported (patient 4). Homozygosity mapping suggests that these results were consistent with GLI1-W780X being responsible for the phenotype of patients 1–2 and a different genetic variation or disease mechanism for the phenotypes of patients 3 and 4. Polydactyly, preaxial I: PMID: 30620395 - Ullah et al. 2019 - 1 case. Pakistani family segregating autosomal recessive form of pre‐axial polydactyly. 2 individuals from two parts of the family were sequenced and a novel homozygous missense mutation identified c.1517T>A; p.Leu506Gln) in the GLI1. The variant segregated with the disease phenotype in the family. It was not found in their in‐house exome sequence data from 70 additional unrelated Pakistani individuals with normal limb phenotypes but was found in heterozygous state in the gnomAD browser, with an allele frequency of 0.0002109, but not in homozygous state. |
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Limb disorders v1.48 | GLI1 |
Eleanor Williams commented on gene: GLI1: Associated with Polydactyly, postaxial, type A8 (#618123) and Polydactyly, preaxial I (#174400) in OMIM. Postaxial Polydactyly Type A8: PMID: 28973407 - Palencia-Campos et al. 2017- 3 cases. They report data from 3 families, 2 Turkish (1 consangineous),1 Pakistani (consangineous) with developmental defects overlapping with Ellis–van Creveld syndrome, including postaxial polydactyly of the hands and/or feet . Homozygous truncating mutations (NM_005269.2: c.2340G > A; p.Trp780*, NM_005269.2: c.1930C > T; p.Gln644*, NM_005269.2: c.337C > T; p.Arg113*) were identified in patients in all 3 families. Note, in the extended members of family 1, one individual is reported with polydactyly but is heterozygous for the p.Trp780* variant and one individual with polydactyly but no p.Trp780* variant is reported (possible different homozygous genetic alteration not detectable by exome sequencing?). Polydactyly, preaxial I: PMID: 30620395 - Ullah et al. 2019 - 1 case. Pakistani family segregating autosomal recessive form of pre‐axial polydactyly. 2 individuals from two parts of the family were sequenced and a novel homozygous missense mutation identified c.1517T>A; p.Leu506Gln) in the GLI1. The variant segregated with the disease phenotype in the family. It was not found in their in‐house exome sequence data from 70 additional unrelated Pakistani individuals with normal limb phenotypes but was found in heterozygous state in the gnomAD browser, with an allele frequency of 0.0002109, but not in homozygous state. |
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Limb disorders v1.48 | STKLD1 | Eleanor Williams Classified gene: STKLD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.48 | STKLD1 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. 2 cases which appear to be from unrelated families although the same variant was found. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.48 | STKLD1 | Eleanor Williams Gene: stkld1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.47 | FAM92A |
Eleanor Williams gene: FAM92A was added gene: FAM92A was added to Limb disorders. Sources: Literature Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM92A were set to 30395363 Phenotypes for gene: FAM92A were set to postaxial polydactyly type A9 Review for gene: FAM92A was set to AMBER Added comment: Sources: Literature |
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Limb disorders v1.46 | GLI1 |
Eleanor Williams gene: GLI1 was added gene: GLI1 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLI1 were set to 28973407; 28973407 Review for gene: GLI1 was set to AMBER Added comment: Gene listed in Table 1 in PMID: 30945277 as associated with polydactyly. Sources: Literature |
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Limb disorders v1.45 | STKLD1 |
Eleanor Williams changed review comment from: This gene is not in OMIM or Gene2Phenotype. PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same homozygous variant c.84C > A, p.Tyr28* in both families that segregated with the condition. 2 affected and 5 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population.; to: This gene is not in OMIM or Gene2Phenotype. PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same homozygous variant c.84C > A, p.Tyr28* (NM_153710.3) in both families that segregated with the condition. 2 affected and 5 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population. The transcript mentioned in this paper NM_153710.3 is linked to GeneID:169436, HGNC:28669 which is STKLD1 (previous name C9orf96). |
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Limb disorders v1.45 | STKLD1 |
Eleanor Williams changed review comment from: This gene is not in OMIM or Gene2Phenotype. PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same variant c.84C > A, p.Tyr28* in both families. 4 affected and 10 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population.; to: This gene is not in OMIM or Gene2Phenotype. PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same homozygous variant c.84C > A, p.Tyr28* in both families that segregated with the condition. 2 affected and 5 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population. |
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Limb disorders v1.45 | STKLD1 |
Eleanor Williams commented on gene: STKLD1: This gene is not in OMIM or Gene2Phenotype. PMID: 30945277 - Umair et al 2019 - 2 consanguineous families of Pakistani origin segregating non‐syndromic pre‐axial polydactyly in autosomal recessive manner. The families originated from two different parts of Pakistan. Whole exome sequencing was used to identify the same variant c.84C > A, p.Tyr28* in both families. 4 affected and 10 unaffected family members were analysed. The variant was not found in homozygous state in ExAC, gnomAD, internal database, 1000 Genomes, EVS, dbSNP, and predicted to be damaging in online available tools used for bioinformatics analysis. However, a minor allele frequency of 0.001119 for the variant was noted in the South Asian population. |
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Limb disorders v1.45 | GLI3 | Eleanor Williams Publications for gene: GLI3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.44 | GLI3 | Eleanor Williams commented on gene: GLI3: PMID: 31115189 - Umair et al 2019 - report a five generation Pakastani kindred having 12 affected individuals exhibiting nonsyndromic postaxial polydactyly type A condition. Using exome sequencing in the three affected individuals, they identified a novel heterozygous frameshift variant (c.3567_3568insG; p.Ala1190Glyfs*57) in the transcriptional activator (TA2) domain of GLI3. The variant segregates with the disease phenotype in all members of the family. The variant was not observed in the ExAC browser, gnomAD, 1,000 Genomes, Pakistan Genetic Mutation database (Qasim et al., 2018) and in 135 in‐house exomes (Pakistani exomes). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.44 | POLR1A |
Eleanor Williams commented on gene: POLR1A: Associated with Acrofacial dysostosis, Cincinnati type (#616462) in OMIM and Gene2Phenotype (probable). PMID: 25913037 - Weaver et al. 2015 - report 3 individuals with mandibulofacial dysostosis, 2 of which have limb anomalies. All have putative pathogenic variants in POLR1A. Limb anomalies include short stature with congenital short bowed femurs with metaphyseal flaring, dysplastic acetabulae, and delayed or absent ossification of the capital femoral epiphyses in Individual 1A1, and short, broad fingers and toes in individual 1A3. polr1a mutant zebrafish exhibited cranioskeletal anomalies mimicking the human phenotype. |
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Limb disorders v1.44 | GZF1 | Eleanor Williams Publications for gene: GZF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.43 | GZF1 | Eleanor Williams Phenotypes for gene: GZF1 were changed from to Joint laxity, short stature, and myopia, 617662; Larsen syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.42 | GZF1 |
Eleanor Williams changed review comment from: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype. PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals.; to: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype. PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature and bilateral talipes equinovarus deformity. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous Saudi family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). 1 family member had bilateral talipes. A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals. |
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Limb disorders v1.42 | GZF1 |
Eleanor Williams commented on gene: GZF1: Associated with Joint laxity, short stature, and myopia (#617662) in OMIM and Larsen syndrome (probable) in Gene2Phenotype. PMID: 28475863 - Patel et al 2017 - 2 cases. Family 1 - a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia. The index patient also had severe kyphoscoliosis. Both the index patient and her brother had short stature. A homozygous truncating variant in GZF1 was identified (c.865G>T (pGlu289∗). Family 2 - another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement (generalized joint laxity). A second homozygous truncating GZF1 variant was identified (c.1054dup (p.Thr352Asnfs∗50). Neither variant was present in 2,379 Saudi exomes or the Exome Aggregation Consortium (ExAC) Browser. In functional studies they found using immunofluorescence, strong localization of GZF1 in the developing mouse eye and, to a lesser extent, in the mesenchyme of the developing mouse limb buds. Using 3 patient-derived lymphoblastoid cell lines they found 1,095 genes to be dysregulated in affected individuals. |
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Limb disorders v1.42 | SUFU | Eleanor Williams Publications for gene: SUFU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.41 | SUFU | Eleanor Williams Phenotypes for gene: SUFU were changed from Joubert syndrome 32, 617757); Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert syndrome 32, 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.40 | SUFU | Eleanor Williams Phenotypes for gene: SUFU were changed from to Joubert syndrome 32, 617757); Joubert Syndrome with Cranio-facial and Skeletal Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.39 | SUFU |
Eleanor Williams commented on gene: SUFU: Associated with Joubert syndrome 32 (#617757) in OMIM and Joubert Syndrome with Cranio-facial and Skeletal Defects in Gene2Phenotype (probable). PMID: 28965847 - Mori et al 2017 - 2 cases. They report four children from two unrelated consanguineous families (from Italy and Egypt) carrying homozygous missense variants (c.1217T>C,p.Ile406Thr and c.1218C>G,p.Ile406Met) in SUFU. The children presented with congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and 3 had postaxial polydactyly. In family 1, the two affected siblings also had a homozygous missense variant in CDHR1 but is expressed only in the outer nuclear layer of the retina and pathogenic variants of this gene are known to cause an autosomal-recessive form of cone-rod dystrophy with onset in the late second decade of life (older than the probands). Functional studies on fibroblasts and cell lines showed that the mutant proteins were less stable and more rapidly degraded than SUFU WT and had impaired ability to bind GLI3 and promote its cleavage into the repressor form GLI3R, while they maintained unaltered ability to bind GLI1. These findings suggest that both variants are hypomorphic alleles, resulting only in a partial loss of the normal gene function. |
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Limb disorders v1.39 | TRAF7 | Eleanor Williams Publications for gene: TRAF7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.38 | TRAF7 | Eleanor Williams Phenotypes for gene: TRAF7 were changed from to Cardiac, facial, and digital anomalies with developmental delay, 618164; Developmental Delay, Congenital Anomalies, and Dysmorphic Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.37 | TRAF7 |
Eleanor Williams changed review comment from: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype. PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet.; to: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype. PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet. |
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Limb disorders v1.37 | TRAF7 |
Eleanor Williams changed review comment from: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype.; to: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype. PMID: 29961569 - Tokita et al. 2018 - 7 cases. They report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. There was substantial phenotypic overlap between individuals, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features as key features. 6 individuals had de novo variants (absence of paternal DNA in one patient did not allow confirmation of a de novo variant), with four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant in 4 individuals. The variants affect evolutionarily conserved amino acids and are located in key functional domains. All 7 subjects had limb and digital anomalies to a variable degree, including variant palmar/digital crease patterns (n = 6) and overlapping toes (n = 5) and clinodactyly (n=3). One subject (Subject 3) had more extensive involvement of the musculoskeletal system including scoliosis with degenerative joint disease, an asymmetric sternum, bilateral avascular necrosis of the hip, tibial malformation, valgus deformity of the ankles, flexion contractures of the hands, and subluxation of multiple joints in the hands and feet. |
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Limb disorders v1.37 | NCAPG2 | Eleanor Williams Phenotypes for gene: NCAPG2 were changed from to Khan-Khan-Katsanis syndrome, 618460 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.36 | NCAPG2 | Eleanor Williams Publications for gene: NCAPG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.35 | TRAF7 | Eleanor Williams commented on gene: TRAF7: Associated with Cardiac, facial, and digital anomalies with developmental delay (#618164) in OMIM and Developmental Delay, Congenital Anomalies, and Dysmorphic Features in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.35 | NCAPG2 |
Eleanor Williams changed review comment from: Associated with Khan-Khan-Katsanis syndrome (#618460) in OMIM. PMID: 30609410 - Khan et al. 2019 - 2 unrelated cases with homozygous or compound heterozygous variants in NCAPG2. Family 1 - female with bilateral postaxial polydactyly on the feet, moderate intellectual disability, ocular anomalies, sensorineural hearing impairment, sleep apnea, and a short stature. Renal anomalies were also observed although these resolved over time. She was found to have compound-heterozygous missense NCAPG2 mutations, c.1825A>G (p.Lys609Glu) and c.2078C>T (p.Thr693Met); three healthy siblings are either wild-type (WT) or heterozygous for the mutations (mut). Family 2 - proband was a twin with multiple congenital anomalies at birth; these included microcephaly, facial dysmorphisms, digit abnormalities (postaxial absent toes and clinodactyly of the 5th finger), ocular phenotypes (Peters anomaly, bilateral glaucoma, and buphthalmos of the left eye), contractures, neonatal hypertonia, and a sacral dimple. A homozygous missense variant was found in the proband c.2548A>C [p.Thr850Pro]. Both parents are heterozygous for this variant. Functional studies with skin fibroblasts from the proband in family 1, showed abnormal chromosome condensation, augmented anaphase chromatin-bridge formation, and micronuclei in daughter cells. In a ncapg2 zebrafish model, morphants displayed clinically relevant phenotypes, such as renal anomalies, microcephaly, and concomitant increases in apoptosis and altered mitotic progression. These could be rescued by wild-type but not mutant human NCAPG2 mRNA and were recapitulated in CRISPR-Cas9 F0 mutants.; to: Associated with Khan-Khan-Katsanis syndrome (#618460) in OMIM. PMID: 30609410 - Khan et al. 2019 - 2 unrelated cases with homozygous or compound heterozygous variants in NCAPG2. Family 1 - female with bilateral postaxial polydactyly on the feet, moderate intellectual disability, ocular anomalies, sensorineural hearing impairment, sleep apnea, and a short stature. Hydronephrosiss was also observed although this improved over time. She was found to have compound-heterozygous missense NCAPG2 mutations, c.1825A>G (p.Lys609Glu) and c.2078C>T (p.Thr693Met); three healthy siblings are either wild-type (WT) or heterozygous for the mutations (mut). Also of note was a heterozygous NPHP1 deletion, a common contributor to nephronophthisis. Family 2 - proband was a twin with multiple congenital anomalies at birth; these included microcephaly, facial dysmorphisms, digit abnormalities (postaxial absent toes and clinodactyly of the 5th finger), ocular phenotypes (Peters anomaly, bilateral glaucoma, and buphthalmos of the left eye), contractures, neonatal hypertonia, and a sacral dimple. A homozygous missense variant was found in the proband c.2548A>C [p.Thr850Pro]. Both parents are heterozygous for this variant. Functional studies with skin fibroblasts from the proband in family 1, showed abnormal chromosome condensation, augmented anaphase chromatin-bridge formation, and micronuclei in daughter cells. In a ncapg2 zebrafish model, morphants displayed clinically relevant phenotypes, such as renal anomalies, microcephaly, and concomitant increases in apoptosis and altered mitotic progression. These could be rescued by wild-type but not mutant human NCAPG2 mRNA and were recapitulated in CRISPR-Cas9 F0 mutants. |
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Limb disorders v1.35 | NCAPG2 |
Eleanor Williams commented on gene: NCAPG2: Associated with Khan-Khan-Katsanis syndrome (#618460) in OMIM. PMID: 30609410 - Khan et al. 2019 - 2 unrelated cases with homozygous or compound heterozygous variants in NCAPG2. Family 1 - female with bilateral postaxial polydactyly on the feet, moderate intellectual disability, ocular anomalies, sensorineural hearing impairment, sleep apnea, and a short stature. Renal anomalies were also observed although these resolved over time. She was found to have compound-heterozygous missense NCAPG2 mutations, c.1825A>G (p.Lys609Glu) and c.2078C>T (p.Thr693Met); three healthy siblings are either wild-type (WT) or heterozygous for the mutations (mut). Family 2 - proband was a twin with multiple congenital anomalies at birth; these included microcephaly, facial dysmorphisms, digit abnormalities (postaxial absent toes and clinodactyly of the 5th finger), ocular phenotypes (Peters anomaly, bilateral glaucoma, and buphthalmos of the left eye), contractures, neonatal hypertonia, and a sacral dimple. A homozygous missense variant was found in the proband c.2548A>C [p.Thr850Pro]. Both parents are heterozygous for this variant. Functional studies with skin fibroblasts from the proband in family 1, showed abnormal chromosome condensation, augmented anaphase chromatin-bridge formation, and micronuclei in daughter cells. In a ncapg2 zebrafish model, morphants displayed clinically relevant phenotypes, such as renal anomalies, microcephaly, and concomitant increases in apoptosis and altered mitotic progression. These could be rescued by wild-type but not mutant human NCAPG2 mRNA and were recapitulated in CRISPR-Cas9 F0 mutants. |
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Limb disorders v1.35 | NXN |
Eleanor Williams changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning.; to: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. A homozygous stopgain variant in NXN c.625C>T [p.Arg209∗] was found to be inherited from consanguineous parents. Family 2 - although the overall length of the proband was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning. The siblings shared compound heterozygous biallelic variants in NXN: a maternally inherited in-frame 3-bp deletion (c.1234_1236del [p.Glu412del]) and a paternally inherited intragenic 84-kb deletion that encompasses the entire first exon chr17:g.805043::GAGG…..AATG::889090). |
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Limb disorders v1.35 | NXN | Eleanor Williams Added comment: Comment on mode of inheritance: 2 cases to date are biallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.35 | NXN | Eleanor Williams Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.34 | NXN | Eleanor Williams Phenotypes for gene: NXN were changed from to Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.33 | NXN |
Eleanor Williams commented on gene: NXN: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning. |
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Limb disorders v1.33 | NXN | Eleanor Williams Publications for gene: NXN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.32 | FZD2 | Eleanor Williams Phenotypes for gene: FZD2 were changed from to Omodysplasia 2, 164745; Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.31 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to 29276006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.30 | FZD2 |
Eleanor Williams commented on gene: FZD2: Associated with Omodysplasia 2 (#164745) in OMIM. Omodysplasia 2: PMID: 25759469 - Saal et al. 2015 - 1 case - a mother and daughter with omodysplasia were found to have a FZD2 mutation (c.1644G>A, p.Trp548*). The variant was found to have occurred de novo in the mother. The altered protein is still produced in vitro, but is shown to have reduced ability to interact with its downstream target DISHEVELLED. The mother had multiple anomalies, including bilateral cleft lip and cleft palate, short upper extremities, dysmorphic facial features and hypoplastic labia and clitoris. Skeletal X rays of the daughter showed hypoplasia of T11 vertebral body and bilateral dislocation of the radius with short humeri. At 6 years musculoskeletal examination showed primarily rhizomelic shortening of the upper extremities and a mild shortening of the forearms with limited forearm supination/pronation. There was mild fifth finger clinodactyly with no brachydactyly. Robinow syndrome: PMID: 29276006 - White et al 2018 - 4 families with at least one individual clinical diagnosed with Robinow or Robinow-like phenotypes and with variants in FZD2 were identified . All showed limb phenotypes including mesomelic limb shortening (3 families, mild in one case), brachdactyly (3 families), proximaly implanted thumbs (1 family), Medelung deformity (1 family). |
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Limb disorders v1.30 | FZD2 | Eleanor Williams Publications for gene: FZD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.29 | ASXL1 | Eleanor Williams Publications for gene: ASXL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.28 | ASXL1 | Eleanor Williams Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome, 605039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.27 | ASXL1 |
Eleanor Williams commented on gene: ASXL1: Associated with Bohring-Opitz syndrome 605039 in OMIM and Gene2Phenotype (confirmed). PMID: 21706002 - Hoischen et al. 2011 - 7 cases - sequenced 13 unrelated patients with Bohring-Opitz syndrome and found de novo heterozygous mutations in 7 of them. All 7 showed a typical BOS posture with flexed elbows and wrists and ulnar deviation of wrists and metacarpophalangeal joints. Syndactyly was observed in 3 out of the 7. Fixed contractures were observed in 6/7. PMID: 22419483 - Magini et al. 2012 - In 2 unrelated patients with classic features of Bohring-Opitz syndrome, identified 2 different de novo heterozygous truncating mutations in the ASXL1 gene not previously reported. Patient 1 - axial hypotonia, limitation of elbow extension, right talipes valgus, and typical facial appearance: prominent forehead, hemangioma over the forehead and glabella, exophthalmos, ptosis, hypertelorism, low‐set, and posteriorly angulated ears, long philtrum, and everted lower lip. Patient 2 had multiple phenotypic features that include flexion deformities of upper limbs joints, at elbow and wrist level with ulnar deviation of both hands, overlapping digits, abduced thumb, clenched fists, deep single palmar crease, typical BOS posture and hypertonia, with contractures at hips, knees, and ankles. Talo‐valgus deformity of feet was present |
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Limb disorders v1.27 | PAX3 | Eleanor Williams Publications for gene: PAX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.26 | PAX3 | Eleanor Williams Phenotypes for gene: PAX3 were changed from to Waardenburg syndrome, type 3, 148820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.25 | PAX3 | Eleanor Williams Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | PAX3 |
Eleanor Williams changed review comment from: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed.; to: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: Homozygous cases: PMID: - not available - Bottani et al., 1999 - 1 case originally reported in Klein et al 1983 (PMID: 6340503) of compound heterozygous mutations in PAX3 involving a recurrent missense mutation in the homeodomain and a new one in the paired domain in an individual with WS3. (Full publications not accessed). PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 7726174- Zlotogora et al. 1995 - 1 case - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. Severe changes were present in the upper limbs, with rigidity of the larger joints -including shoulders, elbows, and wrists-as well as of the smaller joints of the fingers. Muscle wasting was severe in the pectoral region, the shoulders, and upper limbs. Axillary webs were present on both sides. There was a slight degree of contracture of the knees, and there was calcaneovalgus deformation of the feet. PMID: 26443304 - Mousty et al 2015 - 1 case - parents were first‐cousin relatives from a gypsy community in the south of France which both presented with a typical WS1 profile. Ultrasound examination of the fetus revealed cystic hygroma, holoprosencephaly, a lack of active movements, extremity abnormalities (short long bones associated with bilateral club hand and club foot), and significant spinal curvature. Both parents were found to have the same heterozygous mutation in exon 6 of PAX3, namely c.807C>G (p.Asn269Lys). Sequencing of fetal DNA found the mutation in the homozygous state. Functional studies showed an almost total loss of function of PAX3 co‐activation with SOX10 when it came to the mutant. Heterozygous cases: PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A heterozygous donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed. |
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Limb disorders v1.24 | PAX3 |
Eleanor Williams commented on gene: PAX3: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype. Waardenburg syndrome, type 3: PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992). PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son. PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted. PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed. |
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Limb disorders v1.24 | EPHA4 | Andrew Wilkie reviewed gene: EPHA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | SOX9 | Andrew Wilkie reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | SMAD6 | Andrew Wilkie reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | STKLD1 | Andrew Wilkie reviewed gene: STKLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | POLR1A | Andrew Wilkie reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | GZF1 | Andrew Wilkie reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | SUFU | Andrew Wilkie reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | TRAF7 | Andrew Wilkie reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | NCAPG2 | Andrew Wilkie reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | NXN | Andrew Wilkie reviewed gene: NXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | FZD2 | Andrew Wilkie reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | ASXL1 | Andrew Wilkie reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | PAX3 | Andrew Wilkie reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | EIF4A3 | Andrew Wilkie reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | CYP26B1 | Andrew Wilkie reviewed gene: CYP26B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | ZSWIM6 | Andrew Wilkie reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.24 | EFNB1 | Andrew Wilkie reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.23 | EPHA4 |
Eleanor Williams gene: EPHA4 was added gene: EPHA4 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EPHA4 was set to Unknown Review for gene: EPHA4 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.22 | SMAD6 |
Eleanor Williams gene: SMAD6 was added gene: SMAD6 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: SMAD6 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.21 | STKLD1 |
Eleanor Williams gene: STKLD1 was added gene: STKLD1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: STKLD1 was set to Unknown Review for gene: STKLD1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.20 | POLR1A |
Eleanor Williams gene: POLR1A was added gene: POLR1A was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: POLR1A was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.19 | GZF1 |
Eleanor Williams gene: GZF1 was added gene: GZF1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.18 | SUFU |
Eleanor Williams gene: SUFU was added gene: SUFU was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: SUFU was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.17 | TRAF7 |
Eleanor Williams gene: TRAF7 was added gene: TRAF7 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: TRAF7 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.16 | NCAPG2 |
Eleanor Williams gene: NCAPG2 was added gene: NCAPG2 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: NCAPG2 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.15 | NXN |
Eleanor Williams gene: NXN was added gene: NXN was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: NXN was set to Unknown Review for gene: NXN was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.14 | FZD2 |
Eleanor Williams gene: FZD2 was added gene: FZD2 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: FZD2 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.13 | ASXL1 |
Eleanor Williams gene: ASXL1 was added gene: ASXL1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: ASXL1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.12 | PAX3 |
Eleanor Williams gene: PAX3 was added gene: PAX3 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PAX3 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.11 | EIF4A3 |
Eleanor Williams gene: EIF4A3 was added gene: EIF4A3 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF4A3 were set to 9284755; 9449664 Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305 Review for gene: EIF4A3 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.10 | CYP26B1 |
Eleanor Williams commented on gene: CYP26B1: Associated with Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies (614416) in OMIM. PMID: 22019272 - Laue et al 2011 - 2 cases, 1 with a relevant limb phenotype. Family 1 - three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. First proband presented as a fetal death, and subsequent second and third sibs were identified as affected by ultrasonography in two separate pregnancies. Homozygosity for p.Arg363Leu in CYP26B1 was found in all 3 sibs. The parents were heterozygous. Family 2 - individual with a likely diagnosis of Antley-Bixler syndrome born to consanguineous parents. Homozygosity for p.Ser146Pro was found. The phenotype of this female included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly. PMID: 27410456 - Morton et al 2016 - 1 case. A woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability. Reported limb phenotypes are camptodactyly of the fingers, long and narrow feet, short third and fourth metatarsals, and small third to fifth toenails. |
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Limb disorders v1.10 | CYP26B1 |
Eleanor Williams gene: CYP26B1 was added gene: CYP26B1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP26B1 were set to 22019272; 27410456 Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.9 | EFNB1 |
Eleanor Williams commented on gene: EFNB1: Associated with Craniofrontonasal dysplasia (304110) in OMIM and CRANIOFRONTONASAL SYNDROME in Gene2Phenotype (confirmed). In OMIM Asymmetric lower limb shortness, Joint laxity, Syndactyly, Brachydactyly, Fifth finger clinodactyly and Broad halluces are listed as limb features of the condition and a similar list is given in Gene2Phenotype. CFNS shows a very unusual pattern of X-linked inheritance, in which most affected patients are females and obligate male carriers show no or only mild manifestation, such as hypertelorism . PMID: 15166289 - Twigg et al 2014 - identified significant mutations in EFNB1 in all 20 unrelated Craniofrontonasal syndrome females studied, including nine different de novo mutations. Of the 20, 2 had duplex thumb/hallux and 1 showed lower-limb asymmetry in addition to other features such as coronal craniosynostosis and cleft lip and/or palate. PMID: 23335590 - Twigg et al 2013 - Six severely affected sporadic males with a diagnosis of CFNS. They identified mosaic mutations of EFNB1 in all cases, comprising three missense changes, two gene deletions and a novel point mutation within the 5′ untranslated region (UTR). 4/6 patients had brachydactyly and/or syndactyly. Clinodactyly was also seen in 3 patients. PMID: 15124102 - Weiland et al 2004 - 3 families with variants (deletion of exons 2–5 and two missense variants) in EFNB1 and CFNS. In Family 2 brachydactyly was an observed phenotype. In Family 3 one female showed complete syndactyly of the third and fourth finger on the left side. |
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Limb disorders v1.9 | EFNB1 |
Eleanor Williams gene: EFNB1 was added gene: EFNB1 was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EFNB1 were set to 15166289; 23335590; 15124102 Phenotypes for gene: EFNB1 were set to Craniofrontonasal syndrome, 304110 Mode of pathogenicity for gene: EFNB1 was set to Other Review for gene: EFNB1 was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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Limb disorders v1.8 | RBPJ | Eleanor Williams Publications for gene: RBPJ were set to 22883147; 28160419 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.7 | RBPJ | Eleanor Williams commented on gene: RBPJ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.7 | SOX9 |
Louise Daugherty Tag duplication was removed from gene: SOX9. Tag gene-duplication tag was added to gene: SOX9. |
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Limb disorders v1.5 | C5orf42 | Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.5 | C5orf42 | Louise Daugherty commented on gene: C5orf42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.4 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.361 | FANCB | Eleanor Williams commented on gene: FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.361 | LZTFL1 | Eleanor Williams Classified gene: LZTFL1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.361 | LZTFL1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is on the Rare multisystem ciliopathy disorders panel (v1.79) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. Currently red on cilliopathy panel but this will be reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.361 | LZTFL1 | Eleanor Williams Gene: lztfl1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.359 | CCND2 | Eleanor Williams Added comment: Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.359 | CCND2 | Eleanor Williams Mode of pathogenicity for gene: CCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.358 | TBX4 | Eleanor Williams Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome to Ischiocoxopodopatellar syndrome 147891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.357 | RBM8A | Eleanor Williams Phenotypes for gene: RBM8A were changed from Thrombocytopenia-absent radius syndrome, 274000; Thrombocytopenia-absent radius syndrome 274000 to Thrombocytopenia-absent radius syndrome, 274000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.356 | RAB23 | Eleanor Williams Phenotypes for gene: RAB23 were changed from Carpenter syndrome 201000; Polydactyly to Carpenter syndrome 201000; Polydactyly; ACROCEPHALOPOLYSYNDACTYLY TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.355 | PTHLH | Eleanor Williams Phenotypes for gene: PTHLH were changed from Brachydactyly, type E2 to Brachydactyly, type E2 613382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.354 | LMX1B | Eleanor Williams Phenotypes for gene: LMX1B were changed from Nail-patella syndrome to Nail-patella syndrome 161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.353 | HDAC4 | Eleanor Williams commented on gene: HDAC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.353 | BHLHA9 | Eleanor Williams Publications for gene: BHLHA9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.352 | BHLHA9 | Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI back to biallelic only, as the duplication of this gene in SPLIT HAND AND FOOT MALFORMATION seems to be more of a susceptibility factor. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.352 | BHLHA9 | Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.351 | ABL1 | Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.351 | ABL1 | Eleanor Williams Added comment: Comment on list classification: Downgraded to Amber on advice from Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.351 | ABL1 | Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.350 | ORC1 | Eleanor Williams Marked gene: ORC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.350 | ORC1 | Eleanor Williams Added comment: Comment when marking as ready: checked by clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.350 | ORC1 | Eleanor Williams Gene: orc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.350 | ORC1 | Eleanor Williams commented on gene: ORC1: Genomics England clinical team agree with Amber rating since Meier-Gorlin is a phenotype associated with generalised short stature and microcephaly rather than more focal limb phenotype. It is more likely to be picked up via other panels such as Primary Microcephaly - Microcephalic Dwarfism Spectrum and Unexplained skeletal dysplasia panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.350 | DVL1 | Eleanor Williams Publications for gene: DVL1 were set to 25817016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.349 | DVL1 | Eleanor Williams Publications for gene: DVL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.348 | DVL1 | Eleanor Williams Added comment: Comment on mode of pathogenicity: PMID:25817016 suggests known variants causing Robinow syndrome are gain of function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.348 | DVL1 | Eleanor Williams Mode of pathogenicity for gene: DVL1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.347 | BHLHA9 | Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.346 | WNT5A | Eleanor Williams Added comment: Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.346 | WNT5A | Eleanor Williams Mode of inheritance for gene: WNT5A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.345 | TRPS1 | Eleanor Williams Added comment: Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.345 | TRPS1 | Eleanor Williams Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.344 | TP63 | Eleanor Williams Added comment: Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.344 | TP63 | Eleanor Williams Mode of inheritance for gene: TP63 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.343 | ABL1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Both variants reported so far in PMID:28288113 are missense. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.343 | ABL1 | Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.342 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.342 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: ABL1 was originally added to the TAAD panel by the external reviewer Chris Buxton. The phenotypes reported in PMID:28288113 are appropriate for inclusion on the limb panel (including clinodactyly, arachnodactyly, camptodactylyly) and seen in sufficient cases (>3 families, 2 missense variants) for a diagnostic rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.342 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.341 | ABL1 | Rebecca Foulger commented on gene: ABL1: Digit anomalies were seen in all four families from PMID:28288113: Subject 1 (family 1) had a hindfoot deformity. Subject 2 (family 1) had long fingers and toes. Subject 3 (family 2), had 5th finger clinodactyly bilaterally. Subject 4 (family 3) had clinodactyly of the 5th fingers. Subject 5 (family 3) had arachnodactyly (Spider hands), Subject 6 (family 4) had bilateral camptodactylyly of little fingers and bilateral 2-3 toe syndactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.341 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to congential heart disease, skeletal abnormalities and failure to thrive; clinodactyly; syndactyly; arachnodactyly Added comment: Wang et al.,2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo in 3 individuals (families 1-2) and in family 3, the variant was seen in the affected father and daughter. Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in a sixth individual (family 4). Functional assays show that both missense variants cause increased phosphorylation, suggesting increased ABL1 kinase activity. Sources: Literature |
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Limb disorders v0.340 | TBX4 | Eleanor Williams Added comment: Comment on mode of inheritance: Changing to imprinted status unknown as per the reviewer selection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.340 | TBX4 | Eleanor Williams Mode of inheritance for gene: TBX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.339 | WDR60 | Eleanor Williams Publications for gene: WDR60 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.338 | LBR | Eleanor Williams Publications for gene: LBR were set to 18382993; 12618959; 21327084; 12118250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | LBR | Eleanor Williams commented on gene: LBR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | WDR60 | Eleanor Williams commented on gene: WDR60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | ZIC3 | Eleanor Williams commented on gene: ZIC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | ZSWIM6 | Eleanor Williams Classified gene: ZSWIM6 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | ZSWIM6 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.337 | ZSWIM6 | Eleanor Williams Gene: zswim6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.336 | WDR35 | Eleanor Williams Classified gene: WDR35 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.336 | WDR35 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.336 | WDR35 | Eleanor Williams Gene: wdr35 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.335 | WDR34 | Eleanor Williams Classified gene: WDR34 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.335 | WDR34 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.335 | WDR34 | Eleanor Williams Gene: wdr34 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.334 | WDR19 | Eleanor Williams Classified gene: WDR19 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.334 | WDR19 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.334 | WDR19 | Eleanor Williams Gene: wdr19 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.333 | WDPCP | Eleanor Williams Classified gene: WDPCP as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.333 | WDPCP | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.333 | WDPCP | Eleanor Williams Gene: wdpcp has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.332 | TTC8 | Eleanor Williams Marked gene: TTC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.332 | TTC8 | Eleanor Williams Gene: ttc8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.332 | TTC8 | Eleanor Williams Classified gene: TTC8 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.332 | TTC8 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.332 | TTC8 | Eleanor Williams Gene: ttc8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.331 | TTC21B | Eleanor Williams Marked gene: TTC21B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.331 | TTC21B | Eleanor Williams Gene: ttc21b has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.331 | TTC21B | Eleanor Williams Classified gene: TTC21B as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.331 | TTC21B | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.331 | TTC21B | Eleanor Williams Gene: ttc21b has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.330 | TRAF3IP1 | Eleanor Williams Marked gene: TRAF3IP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.330 | TRAF3IP1 | Eleanor Williams Gene: traf3ip1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.330 | TRAF3IP1 | Eleanor Williams Classified gene: TRAF3IP1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.330 | TRAF3IP1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.330 | TRAF3IP1 | Eleanor Williams Gene: traf3ip1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.329 | TMEM67 | Eleanor Williams Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.329 | TMEM67 | Eleanor Williams Gene: tmem67 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.329 | TMEM67 | Eleanor Williams Classified gene: TMEM67 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.329 | TMEM67 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.329 | TMEM67 | Eleanor Williams Gene: tmem67 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.328 | TMEM237 | Eleanor Williams Marked gene: TMEM237 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.328 | TMEM237 | Eleanor Williams Gene: tmem237 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.328 | TMEM237 | Eleanor Williams Classified gene: TMEM237 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.328 | TMEM237 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.328 | TMEM237 | Eleanor Williams Gene: tmem237 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.327 | TMEM231 | Eleanor Williams Marked gene: TMEM231 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.327 | TMEM231 | Eleanor Williams Gene: tmem231 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.327 | TMEM231 | Eleanor Williams Classified gene: TMEM231 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.327 | TMEM231 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.327 | TMEM231 | Eleanor Williams Gene: tmem231 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.326 | TMEM216 | Eleanor Williams Marked gene: TMEM216 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.326 | TMEM216 | Eleanor Williams Gene: tmem216 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.326 | TMEM216 | Eleanor Williams Classified gene: TMEM216 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.326 | TMEM216 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.326 | TMEM216 | Eleanor Williams Gene: tmem216 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.325 | TMEM138 | Eleanor Williams Marked gene: TMEM138 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.325 | TMEM138 | Eleanor Williams Gene: tmem138 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.325 | TMEM138 | Eleanor Williams Classified gene: TMEM138 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.325 | TMEM138 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.325 | TMEM138 | Eleanor Williams Gene: tmem138 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.324 | TCTN3 | Eleanor Williams Classified gene: TCTN3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.324 | TCTN3 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.324 | TCTN3 | Eleanor Williams Gene: tctn3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.323 | TCTN2 | Eleanor Williams Classified gene: TCTN2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.323 | TCTN2 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.323 | TCTN2 | Eleanor Williams Gene: tctn2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.322 | TCTEX1D2 | Eleanor Williams Classified gene: TCTEX1D2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.322 | TCTEX1D2 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.322 | TCTEX1D2 | Eleanor Williams Gene: tctex1d2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.321 | SDCCAG8 | Eleanor Williams Marked gene: SDCCAG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.321 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.321 | SDCCAG8 | Eleanor Williams Classified gene: SDCCAG8 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.321 | SDCCAG8 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.321 | SDCCAG8 | Eleanor Williams Gene: sdccag8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.320 | RPGRIP1L | Eleanor Williams Marked gene: RPGRIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.320 | RPGRIP1L | Eleanor Williams Gene: rpgrip1l has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.320 | RPGRIP1L | Eleanor Williams Classified gene: RPGRIP1L as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.320 | RPGRIP1L | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.320 | RPGRIP1L | Eleanor Williams Gene: rpgrip1l has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.319 | OFD1 | Eleanor Williams Marked gene: OFD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.319 | OFD1 | Eleanor Williams Gene: ofd1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.319 | OFD1 | Eleanor Williams Classified gene: OFD1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.319 | OFD1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.319 | OFD1 | Eleanor Williams Gene: ofd1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.318 | NPHP3 | Eleanor Williams Marked gene: NPHP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.318 | NPHP3 | Eleanor Williams Gene: nphp3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.318 | NPHP3 | Eleanor Williams Classified gene: NPHP3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.318 | NPHP3 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.318 | NPHP3 | Eleanor Williams Gene: nphp3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.317 | NEK1 | Eleanor Williams Classified gene: NEK1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.317 | NEK1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.317 | NEK1 | Eleanor Williams Gene: nek1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.316 | MKS1 | Eleanor Williams Marked gene: MKS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.316 | MKS1 | Eleanor Williams Gene: mks1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.316 | MKS1 | Eleanor Williams Classified gene: MKS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.316 | MKS1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.316 | MKS1 | Eleanor Williams Gene: mks1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.315 | MKKS | Eleanor Williams Marked gene: MKKS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.315 | MKKS | Eleanor Williams Gene: mkks has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.315 | MKKS | Eleanor Williams Classified gene: MKKS as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.315 | MKKS | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.315 | MKKS | Eleanor Williams Gene: mkks has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.314 | KIF7 | Eleanor Williams Marked gene: KIF7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.314 | KIF7 | Eleanor Williams Gene: kif7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.314 | KIF7 | Eleanor Williams Classified gene: KIF7 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.314 | KIF7 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.314 | KIF7 | Eleanor Williams Gene: kif7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.313 | KIAA0586 | Eleanor Williams Classified gene: KIAA0586 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.313 | KIAA0586 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.313 | KIAA0586 | Eleanor Williams Gene: kiaa0586 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.312 | INPP5E | Eleanor Williams Marked gene: INPP5E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.312 | INPP5E | Eleanor Williams Gene: inpp5e has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.312 | INPP5E | Eleanor Williams Classified gene: INPP5E as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.312 | INPP5E | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.312 | INPP5E | Eleanor Williams Gene: inpp5e has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.311 | IFT80 | Eleanor Williams Marked gene: IFT80 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.311 | IFT80 | Eleanor Williams Gene: ift80 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.311 | IFT80 | Eleanor Williams Classified gene: IFT80 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.311 | IFT80 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.311 | IFT80 | Eleanor Williams Gene: ift80 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.310 | IFT52 | Eleanor Williams Classified gene: IFT52 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.310 | IFT52 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.310 | IFT52 | Eleanor Williams Gene: ift52 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.309 | IFT172 | Eleanor Williams Marked gene: IFT172 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.309 | IFT172 | Eleanor Williams Gene: ift172 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.309 | IFT172 | Eleanor Williams Classified gene: IFT172 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.309 | IFT172 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.309 | IFT172 | Eleanor Williams Gene: ift172 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.308 | IFT140 | Eleanor Williams Marked gene: IFT140 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.308 | IFT140 | Eleanor Williams Gene: ift140 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.308 | IFT140 | Eleanor Williams Classified gene: IFT140 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.308 | IFT140 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.308 | IFT140 | Eleanor Williams Gene: ift140 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.307 | ICK | Eleanor Williams Classified gene: ICK as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.307 | ICK | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.307 | ICK | Eleanor Williams Gene: ick has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.306 | HYLS1 | Eleanor Williams Marked gene: HYLS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.306 | HYLS1 | Eleanor Williams Gene: hyls1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.306 | HYLS1 | Eleanor Williams Classified gene: HYLS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.306 | HYLS1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.306 | HYLS1 | Eleanor Williams Gene: hyls1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.305 | EVC2 | Eleanor Williams Marked gene: EVC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.305 | EVC2 | Eleanor Williams Gene: evc2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.305 | EVC2 | Eleanor Williams Classified gene: EVC2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.305 | EVC2 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.305 | EVC2 | Eleanor Williams Gene: evc2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.304 | EVC | Eleanor Williams Marked gene: EVC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.304 | EVC | Eleanor Williams Gene: evc has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.304 | EVC | Eleanor Williams Classified gene: EVC as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.304 | EVC | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.304 | EVC | Eleanor Williams Gene: evc has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.303 | DYNC2LI1 | Eleanor Williams Marked gene: DYNC2LI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.303 | DYNC2LI1 | Eleanor Williams Gene: dync2li1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.303 | DYNC2LI1 | Eleanor Williams Classified gene: DYNC2LI1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.303 | DYNC2LI1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.303 | DYNC2LI1 | Eleanor Williams Gene: dync2li1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.302 | DYNC2H1 | Eleanor Williams Classified gene: DYNC2H1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.302 | DYNC2H1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.302 | DYNC2H1 | Eleanor Williams Gene: dync2h1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.301 | DDX59 | Eleanor Williams Classified gene: DDX59 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.301 | DDX59 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.301 | DDX59 | Eleanor Williams Gene: ddx59 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.300 | CSPP1 | Eleanor Williams Marked gene: CSPP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.300 | CSPP1 | Eleanor Williams Gene: cspp1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.300 | CSPP1 | Eleanor Williams Classified gene: CSPP1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.300 | CSPP1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.300 | CSPP1 | Eleanor Williams Gene: cspp1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.299 | CEP41 | Eleanor Williams Marked gene: CEP41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.299 | CEP41 | Eleanor Williams Gene: cep41 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.299 | CEP41 | Eleanor Williams Classified gene: CEP41 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.299 | CEP41 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.299 | CEP41 | Eleanor Williams Gene: cep41 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.298 | CEP290 | Eleanor Williams Marked gene: CEP290 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.298 | CEP290 | Eleanor Williams Gene: cep290 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.298 | CEP290 | Eleanor Williams Classified gene: CEP290 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.298 | CEP290 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.298 | CEP290 | Eleanor Williams Gene: cep290 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.297 | CEP164 | Eleanor Williams Marked gene: CEP164 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.297 | CEP164 | Eleanor Williams Gene: cep164 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.297 | CEP164 | Eleanor Williams Classified gene: CEP164 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.297 | CEP164 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.297 | CEP164 | Eleanor Williams Gene: cep164 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.296 | CEP120 | Eleanor Williams Marked gene: CEP120 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.296 | CEP120 | Eleanor Williams Gene: cep120 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.296 | CEP120 | Eleanor Williams Classified gene: CEP120 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.296 | CEP120 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.296 | CEP120 | Eleanor Williams Gene: cep120 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.295 | CENPF | Eleanor Williams Marked gene: CENPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.295 | CENPF | Eleanor Williams Gene: cenpf has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.295 | CENPF | Eleanor Williams Classified gene: CENPF as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.295 | CENPF | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.295 | CENPF | Eleanor Williams Gene: cenpf has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.294 | CC2D2A | Eleanor Williams Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.294 | CC2D2A | Eleanor Williams Gene: cc2d2a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.294 | CC2D2A | Eleanor Williams Classified gene: CC2D2A as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.294 | CC2D2A | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.294 | CC2D2A | Eleanor Williams Gene: cc2d2a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.293 | C5orf42 | Eleanor Williams Marked gene: C5orf42 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.293 | C5orf42 | Eleanor Williams Gene: c5orf42 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.293 | C5orf42 | Eleanor Williams Classified gene: C5orf42 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.293 | C5orf42 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.293 | C5orf42 | Eleanor Williams Gene: c5orf42 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.292 | C2CD3 | Eleanor Williams Marked gene: C2CD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.292 | C2CD3 | Eleanor Williams Gene: c2cd3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.292 | C2CD3 | Eleanor Williams Classified gene: C2CD3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.292 | C2CD3 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.292 | C2CD3 | Eleanor Williams Gene: c2cd3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.291 | BBS9 | Eleanor Williams Marked gene: BBS9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.291 | BBS9 | Eleanor Williams Gene: bbs9 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.291 | BBS9 | Eleanor Williams Classified gene: BBS9 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.291 | BBS9 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.291 | BBS9 | Eleanor Williams Gene: bbs9 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.290 | BBS7 | Eleanor Williams Marked gene: BBS7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.290 | BBS7 | Eleanor Williams Gene: bbs7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.290 | BBS7 | Eleanor Williams Classified gene: BBS7 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.290 | BBS7 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.290 | BBS7 | Eleanor Williams Gene: bbs7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.289 | BBS5 | Eleanor Williams Marked gene: BBS5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.289 | BBS5 | Eleanor Williams Gene: bbs5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.289 | BBS5 | Eleanor Williams Classified gene: BBS5 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.289 | BBS5 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.289 | BBS5 | Eleanor Williams Gene: bbs5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.288 | BBS4 | Eleanor Williams Marked gene: BBS4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.288 | BBS4 | Eleanor Williams Gene: bbs4 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.288 | BBS4 | Eleanor Williams Classified gene: BBS4 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.288 | BBS4 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.288 | BBS4 | Eleanor Williams Gene: bbs4 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.287 | BBS2 | Eleanor Williams Marked gene: BBS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.287 | BBS2 | Eleanor Williams Gene: bbs2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.287 | BBS2 | Eleanor Williams Classified gene: BBS2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.287 | BBS2 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.287 | BBS2 | Eleanor Williams Gene: bbs2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.286 | BBS12 | Eleanor Williams Marked gene: BBS12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.286 | BBS12 | Eleanor Williams Gene: bbs12 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.286 | BBS12 | Eleanor Williams Classified gene: BBS12 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.286 | BBS12 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.286 | BBS12 | Eleanor Williams Gene: bbs12 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.285 | BBS10 | Eleanor Williams Marked gene: BBS10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.285 | BBS10 | Eleanor Williams Gene: bbs10 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.285 | BBS10 | Eleanor Williams Classified gene: BBS10 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.285 | BBS10 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.285 | BBS10 | Eleanor Williams Gene: bbs10 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.284 | BBS1 | Eleanor Williams Classified gene: BBS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.284 | BBS1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.284 | BBS1 | Eleanor Williams Gene: bbs1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.283 | B9D2 | Eleanor Williams Classified gene: B9D2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.283 | B9D2 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.283 | B9D2 | Eleanor Williams Gene: b9d2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.282 | ARL6 | Eleanor Williams Classified gene: ARL6 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.282 | ARL6 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.282 | ARL6 | Eleanor Williams Gene: arl6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.281 | ALMS1 | Eleanor Williams Classified gene: ALMS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.281 | ALMS1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.281 | ALMS1 | Eleanor Williams Gene: alms1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.280 | AHI1 | Eleanor Williams Classified gene: AHI1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.280 | AHI1 | Eleanor Williams Added comment: Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.280 | AHI1 | Eleanor Williams Gene: ahi1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.279 | GLI3 | Eleanor Williams Marked gene: GLI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.279 | GLI3 | Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.279 | GLI3 | Eleanor Williams Classified gene: GLI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.279 | GLI3 | Eleanor Williams Added comment: Comment on list classification: Keeping this gene green on the Limb disorders panel, although it is also green on the Rare multisystem ciliopathies panel, on advice of Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.279 | GLI3 | Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.278 | TCTEX1D2 |
Eleanor Williams Source Expert Review Removed was added to TCTEX1D2. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Limb disorders v0.278 | WDR34 |
Eleanor Williams Source Expert Review Removed was added to WDR34. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | DDX59 |
Eleanor Williams Source Expert Review Removed was added to DDX59. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | WDR35 |
Eleanor Williams Source Expert Review Removed was added to WDR35. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | WDPCP |
Eleanor Williams Source Expert Review Removed was added to WDPCP. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | WDR19 |
Eleanor Williams Source Expert Review Removed was added to WDR19. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TCTN3 |
Eleanor Williams Source Expert Review Removed was added to TCTN3. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | B9D2 |
Eleanor Williams Source Expert Review Removed was added to B9D2. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | AHI1 |
Eleanor Williams Source Expert Review Removed was added to AHI1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TCTN2 |
Eleanor Williams Source Expert Review Removed was added to TCTN2. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | BBS1 |
Eleanor Williams Source Expert Review Removed was added to BBS1. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | ARL6 |
Eleanor Williams Source Expert Review Removed was added to ARL6. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | ALMS1 |
Eleanor Williams Source Expert Review Removed was added to ALMS1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | CENPF |
Eleanor Williams Source Expert Review Removed was added to CENPF. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | DYNC2LI1 |
Eleanor Williams Source Expert Review Removed was added to DYNC2LI1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | IFT140 |
Eleanor Williams Source Expert Review Removed was added to IFT140. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | NEK1 |
Eleanor Williams Source Expert Review Removed was added to NEK1. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | DYNC2H1 |
Eleanor Williams Source Expert Review Removed was added to DYNC2H1. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | IFT80 |
Eleanor Williams Source Expert Review Removed was added to IFT80. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | IFT52 |
Eleanor Williams Source Expert Review Removed was added to IFT52. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Limb disorders v0.278 | CEP120 |
Eleanor Williams Source Expert Review Removed was added to CEP120. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TRAF3IP1 |
Eleanor Williams Source Expert Review Removed was added to TRAF3IP1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | IFT172 |
Eleanor Williams Source Expert Review Removed was added to IFT172. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | NPHP3 |
Eleanor Williams Source Expert Review Removed was added to NPHP3. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | ICK |
Eleanor Williams Source Expert Review Removed was added to ICK. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | ZSWIM6 |
Eleanor Williams Source Expert Review Removed was added to ZSWIM6. Rating Changed from Amber List (moderate evidence) to No List (delete) |
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Limb disorders v0.278 | C2CD3 |
Eleanor Williams Source Expert Review Removed was added to C2CD3. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TTC21B |
Eleanor Williams Source Expert Review Removed was added to TTC21B. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | CEP164 |
Eleanor Williams Source Expert Review Removed was added to CEP164. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TMEM67 |
Eleanor Williams Source Expert Review Removed was added to TMEM67. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | TMEM216 |
Eleanor Williams Source Expert Review Removed was added to TMEM216. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | KIAA0586 |
Eleanor Williams Source Expert Review Removed was added to KIAA0586. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | C5orf42 |
Eleanor Williams Source Expert Review Removed was added to C5orf42. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | RPGRIP1L |
Eleanor Williams Source Expert Review Removed was added to RPGRIP1L. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | CSPP1 |
Eleanor Williams Source Expert Review Removed was added to CSPP1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TMEM237 |
Eleanor Williams Source Expert Review Removed was added to TMEM237. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | INPP5E |
Eleanor Williams Source Expert Review Removed was added to INPP5E. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TMEM138 |
Eleanor Williams Source Expert Review Removed was added to TMEM138. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | CC2D2A |
Eleanor Williams Source Expert Review Removed was added to CC2D2A. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | TMEM231 |
Eleanor Williams Source Expert Review Removed was added to TMEM231. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | CEP41 |
Eleanor Williams Source Expert Review Removed was added to CEP41. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | KIF7 |
Eleanor Williams Source Expert Review Removed was added to KIF7. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | OFD1 |
Eleanor Williams Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | HYLS1 |
Eleanor Williams Source Expert Review Removed was added to HYLS1. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | CEP290 |
Eleanor Williams Source Expert Review Removed was added to CEP290. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | EVC2 |
Eleanor Williams Source Expert Review Removed was added to EVC2. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | EVC |
Eleanor Williams Source Expert Review Removed was added to EVC. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | SDCCAG8 |
Eleanor Williams Source Expert Review Removed was added to SDCCAG8. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | MKS1 |
Eleanor Williams Source Expert Review Removed was added to MKS1. Rating Changed from Green List (high evidence) to No List (delete) |
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Limb disorders v0.278 | BBS9 |
Eleanor Williams Source Expert Review Removed was added to BBS9. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | TTC8 |
Eleanor Williams Source Expert Review Removed was added to TTC8. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS7 |
Eleanor Williams Source Expert Review Removed was added to BBS7. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | MKKS |
Eleanor Williams Source Expert Review Removed was added to MKKS. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS5 |
Eleanor Williams Source Expert Review Removed was added to BBS5. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS4 |
Eleanor Williams Source Expert Review Removed was added to BBS4. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS2 |
Eleanor Williams Source Expert Review Removed was added to BBS2. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS12 |
Eleanor Williams Source Expert Review Removed was added to BBS12. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.278 | BBS10 |
Eleanor Williams Source Expert Review Removed was added to BBS10. Rating Changed from Red List (low evidence) to No List (delete) |
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Limb disorders v0.276 | PROM1 | Eleanor Williams Marked gene: PROM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PROM1 | Eleanor Williams Added comment: Comment when marking as ready: No evidence that this gene is associated with a limb phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PROM1 | Eleanor Williams Gene: prom1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PROM1 | Eleanor Williams commented on gene: PROM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PNPLA6 | Eleanor Williams Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PNPLA6 | Eleanor Williams Added comment: Comment when marking as ready: No evidence that this gene is associated with limb disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PNPLA6 | Eleanor Williams Gene: pnpla6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | PNPLA6 | Eleanor Williams commented on gene: PNPLA6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.276 | Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TWIST1 | Eleanor Williams Marked gene: TWIST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TWIST1 | Eleanor Williams Gene: twist1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TRIM32 | Eleanor Williams Marked gene: TRIM32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TRIM32 | Eleanor Williams Gene: trim32 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TRAPPC2 | Eleanor Williams Marked gene: TRAPPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | TRAPPC2 | Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SOX9 | Eleanor Williams Marked gene: SOX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SOX9 | Eleanor Williams Gene: sox9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SLC25A21 | Eleanor Williams Marked gene: SLC25A21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SLC25A21 | Eleanor Williams Gene: slc25a21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SHH | Eleanor Williams Marked gene: SHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | SHH | Eleanor Williams Gene: shh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | ZNF141 | Eleanor Williams Marked gene: ZNF141 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | ZNF141 | Eleanor Williams Gene: znf141 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | USP9X | Eleanor Williams Marked gene: USP9X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | USP9X | Eleanor Williams Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | RAD51C | Eleanor Williams Classified gene: RAD51C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | RAD51C | Eleanor Williams Added comment: Comment on list classification: 2 cases reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.275 | RAD51C | Eleanor Williams Gene: rad51c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.274 | PIK3R2 | Eleanor Williams Marked gene: PIK3R2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.274 | PIK3R2 | Eleanor Williams Gene: pik3r2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.274 | PIK3R2 | Eleanor Williams Mode of pathogenicity for gene: PIK3R2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.273 | PIK3CA | Eleanor Williams Marked gene: PIK3CA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.273 | PIK3CA | Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.273 | PIK3CA | Eleanor Williams Mode of pathogenicity for gene: PIK3CA was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | PDE6D | Eleanor Williams Marked gene: PDE6D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | PDE6D | Eleanor Williams Gene: pde6d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | MEGF8 | Eleanor Williams Marked gene: MEGF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | MEGF8 | Eleanor Williams Gene: megf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | MBTPS2 | Eleanor Williams Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | MBTPS2 | Eleanor Williams Gene: mbtps2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | LZTFL1 | Eleanor Williams Marked gene: LZTFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | LZTFL1 | Eleanor Williams Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | LBR | Eleanor Williams Marked gene: LBR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | LBR | Eleanor Williams Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | IFT52 | Eleanor Williams Marked gene: IFT52 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | IFT52 | Eleanor Williams Gene: ift52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | IFT27 | Eleanor Williams Marked gene: IFT27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | IFT27 | Eleanor Williams Gene: ift27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | ICK | Eleanor Williams Marked gene: ICK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | ICK | Eleanor Williams Gene: ick has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GRIP1 | Eleanor Williams Marked gene: GRIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GRIP1 | Eleanor Williams Gene: grip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GREM1 | Eleanor Williams Marked gene: GREM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GREM1 | Eleanor Williams Gene: grem1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GPC3 | Eleanor Williams Marked gene: GPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GPC3 | Eleanor Williams Gene: gpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GLI2 | Eleanor Williams Marked gene: GLI2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GLI2 | Eleanor Williams Gene: gli2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FREM2 | Eleanor Williams Marked gene: FREM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FREM2 | Eleanor Williams Gene: frem2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FRAS1 | Eleanor Williams Marked gene: FRAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FRAS1 | Eleanor Williams Gene: fras1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FMN1 | Eleanor Williams Marked gene: FMN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FMN1 | Eleanor Williams Gene: fmn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FGF9 | Eleanor Williams Marked gene: FGF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FGF9 | Eleanor Williams Gene: fgf9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FGD1 | Eleanor Williams Marked gene: FGD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FGD1 | Eleanor Williams Gene: fgd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FBLN1 | Eleanor Williams Marked gene: FBLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FBLN1 | Eleanor Williams Gene: fbln1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FANCM | Eleanor Williams Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | FANCM | Eleanor Williams Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | EBP | Eleanor Williams Marked gene: EBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | EBP | Eleanor Williams Gene: ebp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | DLX6 | Eleanor Williams Marked gene: DLX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | DLX6 | Eleanor Williams Gene: dlx6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | ZNF141 | Eleanor Williams Tag watchlist tag was added to gene: ZNF141. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | GREM1 | Eleanor Williams Tag watchlist tag was added to gene: GREM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | LZTFL1 |
Eleanor Williams Source Expert Review Green was added to LZTFL1. Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 17 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444; 23692385 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | LBR |
Eleanor Williams Source Expert Review Green was added to LBR. Mode of inheritance for gene LBR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes mesomelia; Greenberg skeletal dysplasia, 215140; rhizomelia; post-axial polydactyly; Polydactyly for gene: LBR Publications for gene LBR were changed from to 18382993; 12618959; 21327084; 12118250 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | ICK |
Eleanor Williams Source Expert Review Green was added to ICK. Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ECO; Rhizomelia; Short-rib thoracic dysplasia with polydactyly; Polydactyly; SRTD; Mesomelia; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK Publications for gene ICK were changed from to 27466187; 27069622; 19185282 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | GRIP1 |
Eleanor Williams Source Expert Review Green was added to GRIP1. Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 3 617667 for gene: GRIP1 Publications for gene GRIP1 were changed from to 22510445; 24357607 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | GPC3 |
Eleanor Williams Source Expert Review Green was added to GPC3. Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870 for gene: GPC3 Publications for gene GPC3 were changed from to 10814714 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | GLI2 |
Eleanor Williams Source Expert Review Green was added to GLI2. Mode of inheritance for gene GLI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Holoprosencephaly 9 610829; Culler-Jones syndrome 615849 for gene: GLI2 Publications for gene GLI2 were changed from to 21204792; 14581620 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | FREM2 |
Eleanor Williams Source Expert Review Green was added to FREM2. Mode of inheritance for gene FREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 2 617666 for gene: FREM2 Publications for gene FREM2 were changed from to 18203166; 18671281; 15838507 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | FRAS1 |
Eleanor Williams Source Expert Review Green was added to FRAS1. Mode of inheritance for gene FRAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 1 219000 for gene: FRAS1 Publications for gene FRAS1 were changed from to 12766769; 17163535; 16894541 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | FGD1 |
Eleanor Williams Source Expert Review Green was added to FGD1. Mode of inheritance for gene FGD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Aarskog-Scott syndrome 305400 for gene: FGD1 Publications for gene FGD1 were changed from 15809997 to 14560308; 20082460; 17152066; 11093277; 7954831; 10930571; 15809997 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Limb disorders v0.272 | EBP |
Eleanor Williams Source Expert Review Green was added to EBP. Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960 for gene: EBP Publications for gene EBP were changed from to 10942423; 10391218; 10391219; 12509714 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.272 | DDX59 |
Eleanor Williams Added phenotypes Orofaciodigital syndrome V 174300 for gene: DDX59 Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 29127725; 28711741; 23972372 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Limb disorders v0.272 | UBE3B |
Eleanor Williams Source Expert Review Amber was added to UBE3B. Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kaufman oculocerebrofacial syndrome 244450 for gene: UBE3B Publications for gene UBE3B were changed from to 23200864 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Limb disorders v0.272 | TRAPPC2 | Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.272 | IFT52 |
Eleanor Williams Source Expert Review Amber was added to IFT52. Mode of inheritance for gene IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Polydactyly for gene: IFT52 Publications for gene IFT52 were changed from to 26880018 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Limb disorders v0.272 | IFT27 |
Eleanor Williams Source Expert Review Amber was added to IFT27. Mode of inheritance for gene IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Bardet-Biedl syndrome 19, 615996; Polydactyly for gene: IFT27 Publications for gene IFT27 were changed from to 24488770; 29704304 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Limb disorders v0.272 | FGF9 |
Eleanor Williams Added phenotypes Multiple synostoses syndrome 3 612961 for gene: FGF9 Publications for gene FGF9 were changed from 19460469; 28169396; 19589401 to 19460469; 28730625; 28169396; 19589401 |
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Limb disorders v0.272 | FBLN1 |
Eleanor Williams Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES for gene: FBLN1 Publications for gene FBLN1 were changed from 24084572; 11836357 to 11836357; 24084572 |
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Limb disorders v0.271 | RBM10 |
Eleanor Williams Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes TARP syndrome 311900 for gene: RBM10 Publications for gene RBM10 were changed from to 21910224; 20451169; 24259342 |
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Limb disorders v0.271 | RAD51C |
Eleanor Williams Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group O 613390 for gene: RAD51C Publications for gene RAD51C were changed from to 20400963; 29278735 |
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Limb disorders v0.271 | PROM1 |
Eleanor Williams Source Expert Review Red was added to PROM1. Mode of inheritance for gene PROM1 was changed from to Unknown |
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Limb disorders v0.271 | PNPLA6 |
Eleanor Williams Source Expert Review Red was added to PNPLA6. Mode of inheritance for gene PNPLA6 was changed from to Unknown |
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Limb disorders v0.271 | HNRNPK |
Eleanor Williams Source Expert Review Amber was added to HNRNPK. Added phenotypes Au-Kline syndrome 616580 for gene: HNRNPK Publications for gene HNRNPK were changed from to 26173930; 19477957 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Limb disorders v0.271 | GATA1 |
Eleanor Williams Source Expert Review Amber was added to GATA1. Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Radial Ray abnormality for gene: GATA1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Limb disorders v0.271 | ZNF141 |
Eleanor Williams Source Expert Review Red was added to ZNF141. Added phenotypes ?Polydactyly, postaxial, type A6 615226; Polydactyly for gene: ZNF141 |
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Limb disorders v0.271 | TRIM32 |
Eleanor Williams Source Expert Review Red was added to TRIM32. Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 11, 615988; Polydactyly for gene: TRIM32 Publications for gene TRIM32 were changed from to 20301537; 16606853 |
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Limb disorders v0.271 | SOX9 |
Eleanor Williams Source Expert Review Red was added to SOX9. Mode of inheritance for gene SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brachydactyly-anonychia for gene: SOX9 Publications for gene SOX9 were changed from 19639023 to 24704791; 19639023 |
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Limb disorders v0.271 | SLC25A21 |
Eleanor Williams Added phenotypes Familial synpolydactyly of the hands and feet for gene: SLC25A21 Publications for gene SLC25A21 were changed from 25759628 to 22011226; 25759628; 14504231 |
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Limb disorders v0.271 | SHH |
Eleanor Williams Mode of inheritance for gene SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Preaxial polydactyly; Polydactyly for gene: SHH Publications for gene SHH were changed from 12032320; 12837695; 25782671 to 25782671; 12837695; 12032320 |
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Limb disorders v0.271 | SEM1 |
Eleanor Williams Source Expert Review Red was added to SEM1. Added phenotypes Split hand/foot malformation 1, 183600 for gene: SEM1 |
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Limb disorders v0.271 | PDE6D |
Eleanor Williams Source Expert Review Red was added to PDE6D. Mode of inheritance for gene PDE6D was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Joubert syndrome 22 615665 for gene: PDE6D Publications for gene PDE6D were changed from to 24166846 |
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Limb disorders v0.271 | MBTPS2 |
Eleanor Williams Source Expert Review Red was added to MBTPS2. Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 for gene: MBTPS2 Publications for gene MBTPS2 were changed from to 9021007 |
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Limb disorders v0.271 | GREM1 |
Eleanor Williams Source Expert Review Red was added to GREM1. Mode of inheritance for gene GREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene GREM1 were changed from 20610440 to 26527308; 22888807; 16908629; 15201225; 20610440; 22965740 |
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Limb disorders v0.271 | FMN1 |
Eleanor Williams Source Expert Review Red was added to FMN1. Publications for gene FMN1 were changed from to 20610440 |
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Limb disorders v0.271 | FANCM |
Eleanor Williams Source Expert Review Red was added to FANCM. Added phenotypes Radial Ray abnormality for gene: FANCM Publications for gene FANCM were changed from to 28837162 |
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Limb disorders v0.271 | DLX6 |
Eleanor Williams Source Expert Review Red was added to DLX6. Mode of inheritance for gene DLX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Split hand/foot malformation 1 for gene: DLX6 Publications for gene DLX6 were changed from to 28611547 |
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Limb disorders v0.271 | USP9X |
Eleanor Williams Source Expert Review Green was added to USP9X. Mode of inheritance for gene USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted for gene: USP9X Publications for gene USP9X were changed from to 26833328 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.271 | TWIST1 |
Eleanor Williams Source Expert Review Green was added to TWIST1. Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400; Polydactyly for gene: TWIST1 Publications for gene TWIST1 were changed from to 11754069; 12791045; 16251895; 10465122; 30152628; 9792856; 11977182; 25565733; 9585583 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.271 | PIK3R2 |
Eleanor Williams Source Expert Review Green was added to PIK3R2. Mode of inheritance for gene PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 for gene: PIK3R2 Publications for gene PIK3R2 were changed from to 23745724; 22729224; 26520804 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.271 | PIK3CA |
Eleanor Williams Source Expert Review Green was added to PIK3CA. Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Macrodactyly, somatic 155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; CLOVE syndrome, somatic 612918; CLAPO syndrome, somatic 613089 for gene: PIK3CA Publications for gene PIK3CA were changed from to 23100325; 19353582; 29446767; 22729224; 19011570 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.271 | MEGF8 |
Eleanor Williams Source Expert Review Green was added to MEGF8. Mode of inheritance for gene MEGF8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Carpenter syndrome 2 614976 for gene: MEGF8 Publications for gene MEGF8 were changed from to 23063620 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Limb disorders v0.270 | TWIST1 | Louise Daugherty reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10465122, 11754069, 11977182, 9585583, 9792856, 16251895, 30152628, 12791045, 10465122, 25565733; Phenotypes: Polydactyly, Robinow-Sorauf syndrome, 180750, Saethre-Chotzen syndrome, 101400 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | TRIM32 | Louise Daugherty reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: 16606853, 20301537; Phenotypes: Polydactyly, Bardet-Biedl syndrome 11, 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | TRAPPC2 | Louise Daugherty reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda, 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | SOX9 | Louise Daugherty reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: ; Publications: 19639023, 24704791; Phenotypes: Brachydactyly-anonychia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | SLC25A21 | Louise Daugherty reviewed gene: SLC25A21: Rating: RED; Mode of pathogenicity: ; Publications: 25759628, 14504231, 22011226; Phenotypes: Familial synpolydactyly of the hands and feet; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | SHH | Louise Daugherty reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: 12032320, 12837695, 25782671; Phenotypes: Preaxial polydactyly, Polydactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | SEM1 | Louise Daugherty edited their review of gene: SEM1: Added comment: Agree with Red rating,Originally submitted as DSS1 by external reviewer (not SHFM1), the new HGNC-approved symbol is SEM1. Although Split-hand/foot malformation-1 (disease acronym and previous gene symbol SHFM1) is a relevant phenotype to the Limb panel, Split-hand/foot malformation-1 represents a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene. This is not a monogeneic disorder.; Changed phenotypes: Split hand/foot malformation 1, 183600; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | ZNF141 | Ellen McDonagh edited their review of gene: ZNF141: Added comment: PMID: 23160277 - family report of a missense variant segregating with autosomal recessive postaxial polydactyly type A. Functional analysis was not carried out to confirm the effect of the missense. Not enough evidence at this time for this gene to be green - added the watchlist tag.; Changed rating: RED; Changed publications: 23160277; Changed phenotypes: ?Polydactyly, postaxial, type A6 615226, Polydactyly; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | USP9X | Ellen McDonagh reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833328; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | UBE3B | Ellen McDonagh reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23200864; Phenotypes: Kaufman oculocerebrofacial syndrome 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FMN1 | Eleanor Williams reviewed gene: FMN1: Rating: RED; Mode of pathogenicity: ; Publications: 20610440; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FGF9 | Eleanor Williams edited their review of gene: FGF9: Added comment: No new evidence so keep as Amber; Changed rating: AMBER; Changed publications: 19460469, 28169396, 19589401, 28730625; Changed phenotypes: Multiple synostoses syndrome 3 612961; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FGD1 | Eleanor Williams reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15809997, 7954831, 10930571, 11093277, 14560308, 17152066, 20082460; Phenotypes: Aarskog-Scott syndrome 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FBLN1 | Eleanor Williams reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24084572, 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180, SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FANCM | Eleanor Williams reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: 28837162; Phenotypes: Radial Ray abnormality; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | EBP | Eleanor Williams reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391218, 10391219, 10942423, 12509714; Phenotypes: Polydactyly, Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | DLX6 | Eleanor Williams edited their review of gene: DLX6: Changed rating: RED; Changed publications: 28611547; Changed phenotypes: Split hand/foot malformation 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | DDX59 | Eleanor Williams edited their review of gene: DDX59: Added comment: Mutations identified in 5 families. Postaxial polydactyly reported in 4.; Changed rating: GREEN; Changed publications: 23972372, 28711741, 29127725; Changed phenotypes: Orofaciodigital syndrome V 174300; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | RBM10 | Eleanor Williams edited their review of gene: RBM10: Changed rating: AMBER; Changed publications: 20451169, 21910224, 24259342; Changed phenotypes: TARP syndrome 311900; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | RAD51C | Sarah Leigh reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | PROM1 | Sarah Leigh reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | PNPLA6 | Sarah Leigh reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | PIK3R2 | Sarah Leigh reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22729224, 23745724, 26520804; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | PIK3CA | Sarah Leigh reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23100325, 29446767, 19011570, 19353582, 22729224; Phenotypes: Macrodactyly, somatic 155500, CLAPO syndrome, somatic 613089, CLOVE syndrome, somatic 612918, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | PDE6D | Sarah Leigh reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: ; Publications: 24166846; Phenotypes: ?Joubert syndrome 22 615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | MEGF8 | Sarah Leigh reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063620; Phenotypes: Carpenter syndrome 2 614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | MBTPS2 | Sarah Leigh reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: ; Publications: 9021007; Phenotypes: IFAP syndrome with or without BRESHECK syndrome 308205; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | LZTFL1 | Sarah Leigh reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23692385, 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | HNRNPK | Ellen McDonagh reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 26173930, 19477957; Phenotypes: Au-Kline syndrome 616580; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | GRIP1 | Ellen McDonagh reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22510445, 24357607; Phenotypes: Fraser syndrome 3 617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | GREM1 | Ellen McDonagh reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: 20610440, 26527308, 22888807, 22965740, 15201225, 16908629; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | GPC3 | Ellen McDonagh reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10814714; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | GLI2 | Ellen McDonagh reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14581620, 14581620, 21204792, 21204792; Phenotypes: Culler-Jones syndrome 615849, Holoprosencephaly 9 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | GATA1 | Ellen McDonagh reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Radial Ray abnormality; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FREM2 | Ellen McDonagh reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 18671281, 18203166; Phenotypes: Fraser syndrome 2 617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | FRAS1 | Ellen McDonagh reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12766769, 16894541, 17163535; Phenotypes: Fraser syndrome 1 219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | LBR | Rebecca Foulger reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959, 12118250, 18382993, 21327084; Phenotypes: Polydactyly, Greenberg skeletal dysplasia, 215140, rhizomelia, mesomelia, post-axial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | IFT52 | Rebecca Foulger reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: 26880018; Phenotypes: Polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | IFT27 | Rebecca Foulger reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 24488770, 29704304; Phenotypes: Polydactyly, ?Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.270 | ICK | Rebecca Foulger reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185282, 27069622, 27466187; Phenotypes: Polydactyly, Endocrine-cerebroosteodysplasia, 612651, ECO, Short-rib thoracic dysplasia with polydactyly, SRTD, Rhizomelia, Mesomelia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.269 | KIAA0586 | Eleanor Williams Marked gene: KIAA0586 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.269 | KIAA0586 | Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.269 | KIAA0586 | Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.269 | KIAA0586 | Eleanor Williams Added comment: Comment on list classification: Rated green because three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. 1 variant is thought to be a founder mutation but functional studies support this being the causative mutation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.269 | KIAA0586 | Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.268 | KIAA0586 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.268 | KIAA0586 | Eleanor Williams Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly to Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly; Joubert syndrome 23 616490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.267 | KIAA0586 | Eleanor Williams Publications for gene: KIAA0586 were set to 26166481; 26437029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.266 | KIAA0586 | Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.266 | KIAA0586 | Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.265 | KIAA0586 | Eleanor Williams Classified gene: KIAA0586 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.265 | KIAA0586 | Eleanor Williams Added comment: Comment on list classification: Rating green as three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.265 | KIAA0586 | Eleanor Williams Gene: kiaa0586 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.264 | KIAA0586 |
Eleanor Williams commented on gene: KIAA0586: Associated with Joubert syndrome 23 and Short-rib thoracic dysplasia 14 with polydactyly in OMIM and Joubert syndrome in Gene2Phenotype. 4 families described in PMID: 26166481 for Short-rib thoracic dysplasia 14 with polydactyly. One family is a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities. A homozygous nonsense mutation was identified (S77X). They identified 3 further unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (c.1815G-A). Haplotype analysis of these 3 families was consistent with a common ancestor, estimated to have lived 16 generations (480 years) earlier. Bachmann-Gagescu et al. (2015) (PMID: 26096313) identified homozygous or compound heterozygous mutations in the KIAA0586 gene in individuals with Joubert syndrome-23 from 9 unrelated families. Only 1 patient of Middle easter origin had polydactyly (D566V variant). In summary, three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. |
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Limb disorders v0.264 | PRMT7 | Eleanor Williams Marked gene: PRMT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.264 | PRMT7 | Eleanor Williams Gene: prmt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.264 | PRMT7 | Eleanor Williams Classified gene: PRMT7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.264 | PRMT7 | Eleanor Williams Added comment: Comment on list classification: Rated as Green as there are more than 3 cases of individuals with brachydactyly and LOF variants in the PRMT7 gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.264 | PRMT7 | Eleanor Williams Gene: prmt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.263 | PORCN | Eleanor Williams Marked gene: PORCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.263 | PORCN | Eleanor Williams Gene: porcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.263 | PORCN | Eleanor Williams Classified gene: PORCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.263 | PORCN | Eleanor Williams Added comment: Comment on list classification: Changing rating to Green. More than 3 cases where syndactyly is reported in patients with point mutations resulting in stop mutations in publication PMID:17546031 alone. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.263 | PORCN | Eleanor Williams Gene: porcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.262 | DYNC2H1 | Eleanor Williams Marked gene: DYNC2H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.262 | DYNC2H1 | Eleanor Williams Gene: dync2h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.262 | DYNC2H1 | Eleanor Williams Classified gene: DYNC2H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.262 | DYNC2H1 | Eleanor Williams Added comment: Comment on list classification: Promoting to green because there are more than 3 cases in which polydactyly/syndactyly are seen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.262 | DYNC2H1 | Eleanor Williams Gene: dync2h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | COL2A1 | Eleanor Williams Marked gene: COL2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | COL2A1 | Eleanor Williams Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | NEK1 | Eleanor Williams Marked gene: NEK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | NEK1 | Eleanor Williams Gene: nek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | NEK1 | Eleanor Williams Classified gene: NEK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | NEK1 | Eleanor Williams Added comment: Comment on list classification: Rating this gene as green as there are > 3 cases where the patients show polydactyly/polysyndactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.261 | NEK1 | Eleanor Williams Gene: nek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.260 | COL2A1 | Eleanor Williams Publications for gene: COL2A1 were set to 14729840; 15266623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.259 | COL2A1 | Eleanor Williams Classified gene: COL2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.259 | COL2A1 | Eleanor Williams Added comment: Comment on list classification: 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.259 | COL2A1 | Eleanor Williams Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.258 | COL2A1 |
Eleanor Williams commented on gene: COL2A1: Associated with many conditions in OMIM including Spondyloperipheral dysplasia. Zabel et al. (1996) (PMID: 8723097) described a 5-bp duplication in exon 51 of the COL2A1 gene resulting in a frameshift in a patient with spondyloperipheral dysplasia. The patient’s phenotypes included Brachydactyly and short toes. Zankl et al. (2004) (PMID: 15316962) identified heterozygous truncating mutations in the COL2A1 gene in two patients with a phenotype similar to that described by Zabel et al. (1996). Both developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in COL2A1 were found. Summary - 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1. |
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Limb disorders v0.258 | ORC1 | Eleanor Williams Publications for gene: ORC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.257 | ORC1 |
Eleanor Williams commented on gene: ORC1: ORC1 is associated with Meier-Gorlin syndrome 1 in OMIM and Gene2Phenotype (confirmed). > 3 cases of individuals with Meier-Goblin syndrome with short stature (dwarfism) are reported in Bicknell et al. (2011)(PMID: 21358633), Bicknell et al. (2011) (PMID: 21358632) and Guernsey et al. (2011) (PMID: 21358631). A variety of homozygous and compound heterozygous mutations in ORC1 were identified. |
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Limb disorders v0.257 | CHSY1 | Eleanor Williams Marked gene: CHSY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.257 | CHSY1 | Eleanor Williams Gene: chsy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.257 | CHSY1 | Eleanor Williams Classified gene: CHSY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.257 | CHSY1 | Eleanor Williams Added comment: Comment on list classification: Rating as green as there are > 3 cases of patients with a phenotype relevant to this panel with a plausible disease causing variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.257 | CHSY1 | Eleanor Williams Gene: chsy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.256 | CHSY1 |
Eleanor Williams commented on gene: CHSY1: Associated with Temtamy preaxial brachydactyly syndrome in OMIM and Gene2Phenotype. Li et al (2010)(PMID: 21129728) describe 5 consanguineous TPBS families with several different homozygous variants in CHSY1. Patients from all families showed phenotypes relevant to this panel including syndactyly and preaxial brachydactyly. Tian et al (2010)(PMID: 21129727) also describe a consanguineous family with two children showing preaxial brachydactyly among other features. There are > 3 families/cases with patients showing relevant phenotypes and homozygous variants in CHSY1. |
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Limb disorders v0.256 | SMO | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.256 | SMO | Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.255 | DDX59 | Eleanor Williams Marked gene: DDX59 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.255 | DDX59 | Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.255 | DDX59 | Eleanor Williams Phenotypes for gene: DDX59 were changed from Polydactyly to Polydactyly; Orofaciodigital syndrome V 174300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.254 | DDX59 | Eleanor Williams Publications for gene: DDX59 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.253 | DDX59 | Eleanor Williams Mode of inheritance for gene: DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.252 | DDX59 | Eleanor Williams Classified gene: DDX59 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.252 | DDX59 | Eleanor Williams Added comment: Comment on list classification: > 3 families/cases with Orofaciodigital syndrome including polydactyly phenotype and a variant in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.252 | DDX59 | Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.251 | DDX59 | Eleanor Williams commented on gene: DDX59 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | RBM10 | Eleanor Williams commented on gene: RBM10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | DVL2 | Eleanor Williams Marked gene: DVL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | DVL2 | Eleanor Williams Gene: dvl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | DVL2 | Eleanor Williams commented on gene: DVL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | DLX6 | Eleanor Williams commented on gene: DLX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | POLL | Sarah Leigh Marked gene: POLL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | POLL | Sarah Leigh Gene: poll has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | PIK3CA |
Sarah Leigh Tag mosaicism tag was added to gene: PIK3CA. Tag somatic tag was added to gene: PIK3CA. |
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Limb disorders v0.249 | CKAP2L | Eleanor Williams Marked gene: CKAP2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | CKAP2L | Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Marked gene: IFT43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Added comment: Comment when marking as ready: After review of literature, only 2 cases to date have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | MIR17HG | Sarah Leigh Marked gene: MIR17HG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | MIR17HG | Sarah Leigh Gene: mir17hg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Classified gene: IFT43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Added comment: Comment on list classification: Only 2 cases/families to date | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.249 | IFT43 | Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Publications for gene: CKAP2L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Mode of inheritance for gene: CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Classified gene: CKAP2L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants in > 3 families. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.248 | CKAP2L | Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.247 | CKAP2L | Eleanor Williams commented on gene: CKAP2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.247 | CCND2 | Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.246 | CD96 | Eleanor Williams Classified gene: CD96 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.246 | CD96 | Eleanor Williams Added comment: Comment on list classification: Leaving rating at red as only 1 reported case of a patient with limb abnormalities and a putative pathogenic variant in CD96 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.246 | CD96 | Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.246 | CD96 | Eleanor Williams Phenotypes for gene: CD96 were changed from Polydactyly to Polydactyly; C syndrome 211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.246 | CD96 | Eleanor Williams Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CD96 | Eleanor Williams Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CD96 | Eleanor Williams Added comment: Comment when marking as ready: Literature has been reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CD96 | Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CCND2 | Eleanor Williams Marked gene: CCND2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CCND2 | Eleanor Williams Added comment: Comment when marking as ready: Rated green based on sufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CCND2 | Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CD96 | Eleanor Williams commented on gene: CD96 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.245 | CCND2 | Eleanor Williams Publications for gene: CCND2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.244 | CCND2 | Eleanor Williams Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.243 | CCND2 | Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.243 | CCND2 | Eleanor Williams Classified gene: CCND2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.243 | CCND2 | Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.243 | CCND2 | Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | CCND2 | Eleanor Williams commented on gene: CCND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BTRC | Eleanor Williams Marked gene: BTRC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BTRC | Eleanor Williams Added comment: Comment when marking as ready: Review of literature in October 2018 - no new publications. So keeping rating as Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BTRC | Eleanor Williams Gene: btrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Marked gene: BMP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Added comment: Comment when marking as ready: rated green as 3 cases reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Phenotypes for gene: BMP4 were changed from Polydactyly to Polydactyly; Microphthalmia, syndromic 6 607932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Publications for gene: BMP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Mode of inheritance for gene: BMP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Classified gene: BMP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Added comment: Comment on list classification: 3 cases with plausible disease causing variants in the gene have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.242 | BMP4 | Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | BMP4 | Eleanor Williams commented on gene: BMP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | BBS1 | Eleanor Williams Marked gene: BBS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | BBS1 | Eleanor Williams Added comment: Comment when marking as ready: Marked as read after reviewing available evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | BBS1 | Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | BBS1 | Eleanor Williams commented on gene: BBS1: Note: is green on the Rare multisystem ciliopathy disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D2 | Eleanor Williams Marked gene: B9D2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D2 | Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing the available evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D2 | Eleanor Williams Gene: b9d2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D1 | Eleanor Williams Marked gene: B9D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D1 | Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | B9D1 | Eleanor Williams Gene: b9d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARMC8 | Eleanor Williams Marked gene: ARMC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARMC8 | Eleanor Williams Added comment: Comment when marking as ready: Rated based on search of literature and OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARMC8 | Eleanor Williams Gene: armc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARL6 | Eleanor Williams Marked gene: ARL6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARL6 | Eleanor Williams Added comment: Comment when marking as ready: Sufficient evidence to rate green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARL6 | Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ARL6 | Eleanor Williams commented on gene: ARL6: Note: also green on Rare multisystem ciliopathy disorders panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALX3 | Eleanor Williams Marked gene: ALX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALX3 | Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALX3 | Eleanor Williams Gene: alx3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALMS1 | Eleanor Williams Marked gene: ALMS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALMS1 | Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALMS1 | Eleanor Williams Gene: alms1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.241 | ALMS1 | Eleanor Williams Publications for gene: ALMS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.240 | AKT3 | Eleanor Williams Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.240 | AKT3 | Eleanor Williams Added comment: Comment when marking as ready: Rated red based on feedback from Genomics England Clinical Team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.240 | AKT3 | Eleanor Williams Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.240 | AKT3 | Eleanor Williams Phenotypes for gene: AKT3 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.239 | AKT3 | Eleanor Williams Publications for gene: AKT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.238 | AHI1 | Eleanor Williams Marked gene: AHI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.238 | AHI1 | Eleanor Williams Added comment: Comment when marking as ready: Rated as red based on feedback from Genomics England Clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.238 | AHI1 | Eleanor Williams Gene: ahi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.238 | AHI1 | Eleanor Williams Phenotypes for gene: AHI1 were changed from Polydactyly to Polydactyly; Joubert syndrome 3 608629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.237 | AHI1 | Eleanor Williams Publications for gene: AHI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.236 | SMO | Rebecca Foulger Classified gene: SMO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.236 | SMO | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: sufficient unrelated cases of syndactyly and/or preaxial polydactyly in Curry-Jones patients for inclusion on panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.236 | SMO | Rebecca Foulger Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.235 | SMO | Rebecca Foulger Added comment: Comment on mode of inheritance: Somatic mosaic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.235 | SMO | Rebecca Foulger Mode of inheritance for gene: SMO was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | SMO | Rebecca Foulger commented on gene: SMO: Added 'somatic' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | SMO | Rebecca Foulger Tag somatic tag was added to gene: SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | TFAP2B | Rebecca Foulger Marked gene: TFAP2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | TFAP2B | Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | TFAP2B | Rebecca Foulger Classified gene: TFAP2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | TFAP2B | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Char syndrome, which includes hand anomalies. Although not all patients display a hand phenotype, there's sufficient cases for inclusion on the limb panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.234 | TFAP2B | Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.233 | TFAP2B | Rebecca Foulger commented on gene: TFAP2B: Confirmed DD-G2P gene for Char syndrome (MIM:169100). Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies including aplasia or hypoplasia of the middle phalanges of the fifth fingers or fifth finger clinodactyly. However, hand anomalies are not reported in all patients. Variants in TFAP2B can also cause PDA without facial dysmorphism or hand anomalies (MIM:617035). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.233 | TFAP2B | Rebecca Foulger Publications for gene: TFAP2B were set to 15684060; 11505339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.232 | TFAP2B | Rebecca Foulger commented on gene: TFAP2B: In a large 3-generation family segregating autosomal dominant Char syndrome (CHAR; 169100), Mani et al. (2005, 15684060) identified heterozygosity for a G-to-A transition at position +5 of the splice donor site of intron 3, a highly conserved nucleotide in the TFAP2B gene. Of the 22 affected members, all had clinodactyly. Chen et al (PMID:21643846) report the same variant in a Chinese family, but none of the affected individuals in the Chinese family exhibited the craniofacial or fifth-finger anomalies of Char syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.232 | TFAP2B | Rebecca Foulger commented on gene: TFAP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.232 | TFAP2B | Rebecca Foulger Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.231 | TFAP2B | Rebecca Foulger Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.230 | TFAP2B | Rebecca Foulger Publications for gene: TFAP2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.229 | ZIC3 |
Sarah Leigh gene: ZIC3 was added gene: ZIC3 was added to Limb disorders. Sources: Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZIC3 were set to 21465648; 20452998 Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390 |
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Limb disorders v0.229 | WNT7A | Sarah Leigh Added phenotypes absence of a radius; Fuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii for gene: WNT7A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.229 | UBE2T |
Sarah Leigh Source Expert Review Green was added to UBE2T. Added phenotypes Fanconi Anemia, Complementation Group T, 616435 for gene: UBE2T |
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Limb disorders v0.229 | TBX5 |
Sarah Leigh Mode of inheritance for gene TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Holt-Oram syndrome,142900 for gene: TBX5 Publications for gene TBX5 were changed from to 8730285 |
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Limb disorders v0.229 | TBX3 |
Sarah Leigh Mode of inheritance for gene TBX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Ulnar-mammary syndrome, 181450; Hypoplastic/absent/deformed radius for gene: TBX3 |
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Limb disorders v0.229 | SMC3 |
Sarah Leigh Mode of inheritance for gene SMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3 Publications for gene SMC3 were changed from to 25125236 |
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Limb disorders v0.229 | SMC1A |
Sarah Leigh Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A Publications for gene SMC1A were changed from to 20358602 |
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Limb disorders v0.229 | SLX4 |
Sarah Leigh Source Expert Review Green was added to SLX4. Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4 Publications for gene SLX4 were changed from to 21240277; 21240275 |
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Limb disorders v0.229 | SHOX |
Sarah Leigh Source Expert Review Green was added to SHOX. Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX |
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Limb disorders v0.229 | SF3B4 |
Sarah Leigh Mode of inheritance for gene SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4 |
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Limb disorders v0.229 | SALL4 | Sarah Leigh Added phenotypes Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 for gene: SALL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.229 | SALL1 |
Sarah Leigh Mode of inheritance for gene SALL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 for gene: SALL1 |
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Limb disorders v0.229 | RPS7 |
Sarah Leigh Source Expert Review Green was added to RPS7. Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 8, 612563; upper limb malformation for gene: RPS7 Publications for gene RPS7 were changed from to 19061985 |
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Limb disorders v0.229 | RPS26 |
Sarah Leigh Source Expert Review Green was added to RPS26. Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 10, 613309; upper limb malformation for gene: RPS26 Publications for gene RPS26 were changed from to 20116044 |
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Limb disorders v0.229 | RPS24 |
Sarah Leigh Source Expert Review Green was added to RPS24. Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 3, 610629; upper limb malformation for gene: RPS24 Publications for gene RPS24 were changed from to 17186470; 2210388; 8647458; 19689926; 19773262 |
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Limb disorders v0.229 | RPS19 |
Sarah Leigh Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 1, 105650; Triphalangeal thumbs; Hypoplastic thumbs; Mild radial hypoplasia; Absent thumbs for gene: RPS19 Publications for gene RPS19 were changed from to 15384984; 9988267; 1746615 |
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Limb disorders v0.229 | RPS17 |
Sarah Leigh Source Expert Review Green was added to RPS17. Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17 Publications for gene RPS17 were changed from to 17647292; 19953637; 22045982; 19061985 |
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Limb disorders v0.229 | RPS10 |
Sarah Leigh Source Expert Review Green was added to RPS10. Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 9, 613308; upper limb malformation for gene: RPS10 Publications for gene RPS10 were changed from to 20116044 |
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Limb disorders v0.229 | RPL5 |
Sarah Leigh Source Expert Review Green was added to RPL5. Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 6, 612561; thumb abnormalities for gene: RPL5 Publications for gene RPL5 were changed from to 19191325; 19061985 |
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Limb disorders v0.229 | RPL35A |
Sarah Leigh Source Expert Review Green was added to RPL35A. Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 5, 612528; upper limb malformation for gene: RPL35A Publications for gene RPL35A were changed from to 18535205 |
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Limb disorders v0.229 | RPL11 |
Sarah Leigh Source Expert Review Green was added to RPL11. Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 7, 612562; hypoplastic thumb; thumb abnormalities for gene: RPL11 Publications for gene RPL11 were changed from to 19191325; 19061985 |
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Limb disorders v0.229 | RECQL4 | Sarah Leigh Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.229 | RBM8A |
Sarah Leigh Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A Publications for gene RBM8A were changed from to 22366785 |
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Limb disorders v0.229 | PALB2 |
Sarah Leigh Source Expert Review Green was added to PALB2. Mode of inheritance for gene PALB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2 Publications for gene PALB2 were changed from to 17200671; 17200672 |
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Limb disorders v0.229 | NIPBL |
Sarah Leigh Mode of inheritance for gene NIPBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes CDLS1; Cornelia de Lange syndrome 1, 122470; Dislocation of the radial head; upper limb anomalies for gene: NIPBL |
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Limb disorders v0.229 | LMBR1 |
Sarah Leigh Mode of inheritance for gene LMBR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Triphalangeal Thumb-Polysyndactyly Syndrome; Laurin-Sandrow syndrome,135750; Triphalangeal thumb type I,174500 for gene: LMBR1 |
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Limb disorders v0.229 | KCNH1 |
Sarah Leigh Source Expert Review Green was added to KCNH1. Added phenotypes Hypoplasia of terminal phalanges; Temple-Baraitser syndrome, 611816 for gene: KCNH1 |
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Limb disorders v0.229 | HOXA13 |
Sarah Leigh Added phenotypes Hand-foot-uterus syndrome, 140000 for gene: HOXA13 Publications for gene HOXA13 were changed from to 10839976; 9020844 |
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Limb disorders v0.229 | HDAC8 |
Sarah Leigh Source Expert Review Green was added to HDAC8. Added phenotypes Cornelia de Lange syndrome 5, 300882 for gene: HDAC8 |
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Limb disorders v0.229 | FLNA |
Sarah Leigh Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA Publications for gene FLNA were changed from to 12612583 |
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Limb disorders v0.229 | FIG4 |
Sarah Leigh Source Expert Review Green was added to FIG4. Added phenotypes Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs for gene: FIG4 Publications for gene FIG4 were changed from to 23623387 |
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Limb disorders v0.229 | FGFR3 |
Sarah Leigh Mode of inheritance for gene FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR3 |
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Limb disorders v0.229 | FGFR2 |
Sarah Leigh Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR2 |
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Limb disorders v0.229 | FGF10 |
Sarah Leigh Mode of inheritance for gene FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGF10 |
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Limb disorders v0.229 | FANCL |
Sarah Leigh Source Expert Review Green was added to FANCL. Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group L, 614083 for gene: FANCL Publications for gene FANCL were changed from to 25754594; 12973351; 19405097; 12724401 |
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Limb disorders v0.229 | FANCI |
Sarah Leigh Source Expert Review Green was added to FANCI. Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group I, 609053 for gene: FANCI Publications for gene FANCI were changed from to 11239453; 17452773 |
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Limb disorders v0.229 | FANCG |
Sarah Leigh Source Expert Review Green was added to FANCG. Mode of inheritance for gene FANCG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group G, 614082 for gene: FANCG Publications for gene FANCG were changed from to 9806548 |
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Limb disorders v0.229 | FANCF |
Sarah Leigh Source Expert Review Green was added to FANCF. Mode of inheritance for gene FANCF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group F, 603467 for gene: FANCF Publications for gene FANCF were changed from to 10615118 |
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Limb disorders v0.229 | FANCE |
Sarah Leigh Source Expert Review Green was added to FANCE. Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE Publications for gene FANCE were changed from to 9147877; 10205272; 7662964; 9382107 |
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Limb disorders v0.229 | FANCD2 |
Sarah Leigh Source Expert Review Green was added to FANCD2. Mode of inheritance for gene FANCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group D2, 227646 for gene: FANCD2 Publications for gene FANCD2 were changed from to 11239454 |
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Limb disorders v0.229 | FANCC |
Sarah Leigh Source Expert Review Green was added to FANCC. Mode of inheritance for gene FANCC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group C, 227645 for gene: FANCC Publications for gene FANCC were changed from to 1574115 |
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Limb disorders v0.229 | FANCB |
Sarah Leigh Source Expert Review Green was added to FANCB. Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB Publications for gene FANCB were changed from to 15502827 |
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Limb disorders v0.229 | FANCA |
Sarah Leigh Source Expert Review Green was added to FANCA. Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group A, 227650 for gene: FANCA Publications for gene FANCA were changed from to 8896563 |
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Limb disorders v0.229 | ESCO2 |
Sarah Leigh Source Expert Review Green was added to ESCO2. Added phenotypes absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia for gene: ESCO2 |
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Limb disorders v0.229 | ERCC4 |
Sarah Leigh Source Expert Review Green was added to ERCC4. Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4 Publications for gene ERCC4 were changed from to 23623389; 23623386; 24027083 |
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Limb disorders v0.229 | BRIP1 |
Sarah Leigh Source Expert Review Green was added to BRIP1. Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 16153896; 16116424; 14630800; 16116423 |
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Limb disorders v0.229 | BRCA2 |
Sarah Leigh Source Expert Review Green was added to BRCA2. Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2 Publications for gene BRCA2 were changed from to 11239453; 12065746; 14670928; 28185119 |
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Limb disorders v0.228 | UBE2T |
Sarah Leigh gene: UBE2T was added gene: UBE2T was added to Limb disorders. Sources: Other Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368; 26119737; 26085575 Phenotypes for gene: UBE2T were set to Fanconi Anemia, Complementation Group T, 616435 |
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Limb disorders v0.228 | SHOX |
Sarah Leigh gene: SHOX was added gene: SHOX was added to Limb disorders. Sources: Other Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300 |
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Limb disorders v0.228 | KCNH1 |
Sarah Leigh gene: KCNH1 was added gene: KCNH1 was added to Limb disorders. Sources: Other Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNH1 were set to 25420144 Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, 611816 |
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Limb disorders v0.228 | HDAC8 |
Sarah Leigh gene: HDAC8 was added gene: HDAC8 was added to Limb disorders. Sources: Other Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, 300882 |
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Limb disorders v0.228 | FIG4 |
Sarah Leigh gene: FIG4 was added gene: FIG4 was added to Limb disorders. Sources: Other Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 |
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Limb disorders v0.228 | ESCO2 |
Sarah Leigh gene: ESCO2 was added gene: ESCO2 was added to Limb disorders. Sources: Other Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia |
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Limb disorders v0.227 | TFAP2A | Rebecca Foulger Marked gene: TFAP2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Added comment: Comment when marking as ready: Amber rating while awaiting further dactyly cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger commented on gene: TFAP2A: Added 'watchlist' tag while awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Tag watchlist tag was added to gene: TFAP2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Classified gene: TFAP2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Confirmed DD-G2P gene for Branchiooculofacial syndrome (MIM:113620) which can present with Polydactyly and Clinodactyly. Currently insufficient cases of dactyly phenotypes for diagnostic rating (PMIDs:20358615, 19685247). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.227 | TFAP2A | Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.226 | TFAP2A | Rebecca Foulger commented on gene: TFAP2A: Added 'deletions' tag based on Syndactyly patients in PMID:19685247 with whole gene deletions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.226 | TFAP2A | Rebecca Foulger Tag deletions tag was added to gene: TFAP2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.226 | TFAP2A | Rebecca Foulger commented on gene: TFAP2A: Gestri et al 2009 (PMID:19685247) analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS. A 5 year old boy with 5th finger clinodactyly (amongst other phenotypes) had a 12bp deletion resulting in the deletion of 4 amino acids (Glu233 to Arg236) in TFAP2A. Whole gene deletion was seen in a further 3 patients which all presented with Syndactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.226 | TFAP2A | Rebecca Foulger commented on gene: TFAP2A: 1 BOFS patient was reported in Reiber et al 2010 (PMID:20358615) with severe Syndactyly and a c.806T>C (p.Leu269Pro) de novo missense variant in TFAP2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.226 | TFAP2A | Rebecca Foulger Publications for gene: TFAP2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.225 | TFAP2A | Rebecca Foulger Phenotypes for gene: TFAP2A were changed from Polydactyly to Polydactyly; Branchiooculofacial syndrome, 113620; Clinodactyly; Syndactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.224 | TFAP2A | Rebecca Foulger Added comment: Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.224 | TFAP2A | Rebecca Foulger Mode of inheritance for gene: TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.223 | TCTN3 | Rebecca Foulger Publications for gene: TCTN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Marked gene: TCTN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Added comment: Comment when marking as ready: Sufficient cases (>3) of polydactyly in patients with TCTN3 homozyous/compound het variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Classified gene: TCTN3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Orofaciodigital syndrome IV, 258860 (Mohr-Majewski syndrome) which can present with Polydactyly, Brachydactyly, Clinodactyly or Syndactyly. >3 polydactyly cases from multiple populations reported in consanguineous families in PMID:22883145. Multiple variants identified in this paper (homozgyous or compound heterozygous). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.222 | TCTN3 | Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.221 | TCTN3 | Rebecca Foulger commented on gene: TCTN3: Thomas et al. 2012 (PMID:22883145) identified a nonsensense variant in TCTN3 in an aborted fetus born to a consanguineous Senegal family. Amongst other features, the fetus had polydactyly of four limbs and bowing of long bones with severe tibia hypoplasia. They identified 2 additional homozygous variants in three other fetuses (from Pakistan and Tunisia), all of whom displayed polydactyly (Table 1) together with bone defects including femoral bowing and club foot. They also reported compound heterozygous variants in 2 French fetal siblings with Orofaciodigital syndrome IV, 258860 including polydactyly. Additionally they report 2 Turkish siblings with Joubert syndrome (MIM:614815) and homozygous TCTN3 variants; one was reported with polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.221 | TCTN3 | Rebecca Foulger Phenotypes for gene: TCTN3 were changed from Polydactyly to Polydactyly; Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.220 | TCTN3 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.220 | TCTN3 | Rebecca Foulger Mode of inheritance for gene: TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.219 | TCTEX1D2 | Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.218 | TCTN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.218 | TCTN2 | Rebecca Foulger Mode of inheritance for gene: TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Marked gene: TCTN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Added comment: Comment when marking as ready: 2 cases of polydactyl in literature plus mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Classified gene: TCTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 2 cases of polydactyly in literature as part of Joubert syndrome (PMID:25118024) and Meckel-Gruber syndrome (PMID:21462283) PLUS mouse model of polydactyly (PMID:21565611). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.217 | TCTN2 | Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.216 | TCTN2 | Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly to Polydactyly; Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885; postaxial polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.215 | TCTN2 | Rebecca Foulger commented on gene: TCTN2: Sang et al (2011, PMID:21565611) report a mouse model of Tctn2-/- embryos that exhibit defects including single hindlimb preaxial polydactyly, either bilaterally or unilaterally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.215 | TCTN2 | Rebecca Foulger Publications for gene: TCTN2 were set to 25118024; 21565611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.214 | TCTN2 | Rebecca Foulger commented on gene: TCTN2: In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011, PMID:21462283) identified homozygosity for a splice site mutation in the TCTN2 gene (1506-2A-G). Phenotypes included polydactyly in all recorded patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.214 | TCTN2 | Rebecca Foulger Publications for gene: TCTN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.213 | TCTN2 | Rebecca Foulger commented on gene: TCTN2: Huppke et al. (2015, PMID:25118024) reported a 7.5-year-old Turkish boy, born of consanguineous parents, with a neurodevelopmental disorder consistent with Joubert syndrome. At birth, the patient was noted to have postaxial hexadactyly of all 4 extremities. The authors identified a homozygous splice site mutation in the TCTN2 gene (c.1235-1G-A, NM_024809.4). The unaffected mother was heterozygous for the variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.213 | TCTN2 | Rebecca Foulger commented on gene: TCTN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.213 | TCTN2 | Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly to Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.212 | DYNC2H1 | Rebecca Foulger commented on gene: DYNC2H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.212 | DYNC2H1 | Rebecca Foulger Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Marked gene: TCTEX1D2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger commented on gene: TCTEX1D2: Added 'watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Tag watchlist tag was added to gene: TCTEX1D2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Classified gene: TCTEX1D2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Two cases (PMID:26044572) presenting with polydactyly and/or brachydactyly as part of Short-rib thoracic dysplasia. A further case in the same paper removes part of the TM4SF19 gene in addition to part of the TCTEX1D2 gene. Therefore require further evidence of TCTEX1D2 variants causing limb phenotype before rating Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.211 | TCTEX1D2 | Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.210 | TCTEX1D2 | Rebecca Foulger commented on gene: TCTEX1D2: In a third family (UCL4) reported by Schmidts et al. (2015, PMID:26044572), 3 affected sibs were homozygous for a more than 10-kb deletion removing the start codon and exons 1 and 2 of the TCTEX1D2 gene (and exons 2-5 of the neighbouring TM4SF19 gene). The deletion was also detected in 2 apparently unaffected sibs, indicating reduced penetrance. Some members of this family showed mild brachydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.210 | TCTEX1D2 | Rebecca Foulger commented on gene: TCTEX1D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.210 | TCTEX1D2 | Rebecca Foulger Publications for gene: TCTEX1D2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.209 | TCTEX1D2 | Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Polydactyly to Polydactyly; Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Brachydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.208 | TBX22 | Rebecca Foulger Marked gene: TBX22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.208 | TBX22 | Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.208 | TBX22 | Rebecca Foulger Publications for gene: TBX22 were set to 21375406; 839509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.207 | TBX22 | Rebecca Foulger Classified gene: TBX22 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.207 | TBX22 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red: there is some evidence linking limb anomalies to TBX22 variants (PMID:21375406) but currently insufficient cases for inclusion on a diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.207 | TBX22 | Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.206 | TBX22 | Rebecca Foulger commented on gene: TBX22: Abruzzo-Erickson syndrome (MIM:302905, reported by Abruzzo and Erickson in 1977, PMID:839509) includes radial synostosis (an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.206 | TBX22 | Rebecca Foulger Publications for gene: TBX22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.205 | TBX22 | Rebecca Foulger commented on gene: TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.205 | TBX22 | Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis; upper limb anomalies; clinodactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.204 | TBX22 | Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.203 | TBX22 | Rebecca Foulger Mode of inheritance for gene: TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Marked gene: SPINT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger commented on gene: SPINT2: Added 'watchlist' tag: require further evidence for a diagnostic rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Tag watchlist tag was added to gene: SPINT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Classified gene: SPINT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. 2 cases from literature where congenital diarrhea (CSD) presents with hexadactyly. Need more evidence before rating as diagnostic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.202 | SPINT2 | Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.201 | SEM1 | Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by expert review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.201 | SEM1 | Louise Daugherty Mode of inheritance for gene: SEM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.200 | SPINT2 | Rebecca Foulger Publications for gene: SPINT2 were set to 24142340; 19185281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.199 | SPINT2 | Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly; congenital sodium diarrhea with additional syndromic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.198 | ARL6 | Eleanor Williams Phenotypes for gene: ARL6 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 3 600151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.197 | ARL6 | Eleanor Williams Publications for gene: ARL6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.196 | ARL6 | Eleanor Williams Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.195 | ARL6 | Eleanor Williams Classified gene: ARL6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.195 | ARL6 | Eleanor Williams Added comment: Comment on list classification: Rated green as variants in the ARL6 gene is associated with Bardet-Biedl syndrome 3 in more than cases/families. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.195 | ARL6 | Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.194 | BBS1 | Eleanor Williams Phenotypes for gene: BBS1 were changed from Polydactyly to Polydactyly; Bardet-Biedl syndrome 1209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.193 | BBS1 | Eleanor Williams Publications for gene: BBS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.192 | BBS1 | Eleanor Williams Added comment: Comment on mode of inheritance: Also reported as Digenic recessive in OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.192 | BBS1 | Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.191 | BBS1 | Eleanor Williams Classified gene: BBS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.191 | BBS1 | Eleanor Williams Added comment: Comment on list classification: More than 3 cases/families reported of variants in this gene in individuals with Bardet-Biedl syndrome 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.191 | BBS1 | Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.190 | BBS1 | Eleanor Williams commented on gene: BBS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.190 | B9D2 | Eleanor Williams Classified gene: B9D2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.190 | B9D2 | Eleanor Williams Added comment: Comment on list classification: Rating as red as only 1 variant reported in 1 family in association with Meckel syndrome 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.190 | B9D2 | Eleanor Williams Gene: b9d2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.189 | B9D2 | Eleanor Williams Phenotypes for gene: B9D2 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 10 614175; Joubert syndrome 34 614175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.188 | B9D2 | Eleanor Williams Publications for gene: B9D2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.187 | B9D2 | Eleanor Williams commented on gene: B9D2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.187 | B9D1 | Eleanor Williams Phenotypes for gene: B9D1 were changed from Polydactyly to Polydactyly; ?Meckel syndrome 9 614209; Joubert syndrome 27 617120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.186 | B9D1 | Eleanor Williams Publications for gene: B9D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.185 | B9D1 | Eleanor Williams Classified gene: B9D1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.185 | B9D1 | Eleanor Williams Added comment: Comment on list classification: Rating red as insufficient evidence to associate this gene with Meckel syndrome 9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.185 | B9D1 | Eleanor Williams Gene: b9d1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.184 | B9D1 | Eleanor Williams commented on gene: B9D1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.184 | ARMC8 | Eleanor Williams Classified gene: ARMC8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.184 | ARMC8 | Eleanor Williams Added comment: Comment on list classification: No evidence found for an association of this gene with any limb disorder phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.184 | ARMC8 | Eleanor Williams Gene: armc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.183 | ARMC8 | Eleanor Williams commented on gene: ARMC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.183 | ARL6 | Eleanor Williams commented on gene: ARL6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.183 | ALX3 | Eleanor Williams Classified gene: ALX3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.183 | ALX3 | Eleanor Williams Added comment: Comment on list classification: Rating this gene as red as no clear evidence that ALX3 is associated with a limb disorder phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.183 | ALX3 | Eleanor Williams Gene: alx3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.182 | ALX3 | Eleanor Williams commented on gene: ALX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.182 | AKT3 | Eleanor Williams Classified gene: AKT3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.182 | AKT3 | Eleanor Williams Added comment: Comment on list classification: Rating as red. Insufficient evidence for AKT3 association with polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.182 | AKT3 | Eleanor Williams Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.181 | AHI1 | Eleanor Williams Classified gene: AHI1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.181 | AHI1 | Eleanor Williams Added comment: Comment on list classification: Rating as red from feedback from Genomics England clinical team. The presentation of Joubert syndrome is usually broader than isolated polydactyly. It could be useful for the diagnosis of neonates but not for any patients older than this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.181 | AHI1 | Eleanor Williams Gene: ahi1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.180 | SPINT2 | Rebecca Foulger commented on gene: SPINT2: PMID:19185281 (Heinz-Erian et al., 2009) reviewed data from a large cohort of CSD patients (n = 24).1 Swedish female patient with syndromic CSD had a homozygous SPINT2 allele (c.488A→G, p.Y163C) and presented with an extra digit on her right hand. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.180 | SPINT2 | Rebecca Foulger commented on gene: SPINT2: In 9 children from 7 families with MIM:270420, Salomon et al. (2014, PMID:24142340) identified either homozygosity for the Y163C mutation in SPINT2 or compound heterozygosity for Y163C and another variant in SPINT2. One of the patients (an Italian boy) exhibited additional hexadactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.180 | SPINT2 | Rebecca Foulger Added comment: Comment on phenotypes: Biallelic, loss of function mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea (CSD) which can (rarely) include hexadactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.180 | SPINT2 | Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.179 | SPINT2 | Rebecca Foulger Phenotypes for gene: SPINT2 were changed from Polydactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.178 | SPINT2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and literature (PMIDs:19185281,24142340). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.178 | SPINT2 | Rebecca Foulger Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.177 | SPINT2 | Rebecca Foulger Publications for gene: SPINT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.176 | SMO | Rebecca Foulger commented on gene: SMO: PMID:27236920 (Twigg et al, 2016) analysed 10 unrelated patients with Curry-Jones syndrome including 6 previously reported patients. They identified somatic mosaicism for the identical L412F variant in SMO in 8 of the patients. The patients all showed cutaneous syndactyly and/or preaxial polydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.176 | SMO | Rebecca Foulger Phenotypes for gene: SMO were changed from Polydactyly to Polydactyly; Curry-Jones syndrome, somatic mosaic, MIM:601500; Cutaneous syndactyly; Preaxial polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.175 | SMO | Rebecca Foulger Publications for gene: SMO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.174 | SMO | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Somatic mosaicism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.174 | SMO | Rebecca Foulger Mode of pathogenicity for gene: SMO was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.173 | SMO | Rebecca Foulger commented on gene: SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.173 | SMO | Rebecca Foulger Tag mosaicism tag was added to gene: SMO. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.173 | ALMS1 | Eleanor Williams Classified gene: ALMS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.173 | ALMS1 | Eleanor Williams Added comment: Comment on list classification: Rating red as only one report of a variant in this gene being associated with a polydactyly phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.173 | ALMS1 | Eleanor Williams Gene: alms1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | ALMS1 | Eleanor Williams edited their review of gene: ALMS1: Changed publications: 24400638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | ALMS1 | Eleanor Williams commented on gene: ALMS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AKT3 | Eleanor Williams commented on gene: AKT3: Consulting with the Genomics England clinical team as to the appropriate rating of this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AHI1 | Eleanor Williams edited their review of gene: AHI1: Changed publications: 17377524, 1341417; Changed phenotypes: Joubert syndrome 3 608629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AKT3 | Eleanor Williams edited their review of gene: AKT3: Changed publications: 23592320, 22729224, 23745724, 22500628, 22729223; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AKT3 | Eleanor Williams commented on gene: AKT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AHI1 | Eleanor Williams commented on gene: AHI1: Checking with Genomics England clinical team whether the Jouberts Syndrome is a relevant phenotype for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | AHI1 | Eleanor Williams commented on gene: AHI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | BMP2 | Eleanor Williams Classified gene: BMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | BMP2 | Eleanor Williams Added comment: Comment on list classification: Rating as green as publication PMID:29198724 reports sufficient cases associated with a relevant phenotype to reach a green rating for SNVs. The skeletal features include phalangeal anomalies. Rating has been checked with the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.172 | BMP2 | Eleanor Williams Gene: bmp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.171 | BMP2 | Eleanor Williams Tag cnv tag was added to gene: BMP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.171 | ZSWIM6 | Sarah Leigh Tag missense tag was added to gene: ZSWIM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.171 | ZSWIM6 | Sarah Leigh Mode of pathogenicity for gene: ZSWIM6 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.170 | WDPCP | Sarah Leigh Marked gene: WDPCP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.170 | WDPCP | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in a single case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.170 | WDPCP | Sarah Leigh Gene: wdpcp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.170 | WDPCP | Sarah Leigh Publications for gene: WDPCP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.169 | WDPCP | Sarah Leigh Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.168 | WDPCP | Sarah Leigh Phenotypes for gene: WDPCP were changed from Polydactyly to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.167 | WDR19 | Sarah Leigh Marked gene: WDR19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.167 | WDR19 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Two variants reported as compound heterozygotes in affected members of one family with Cranioectodermal dysplasia 4 and one homozygous variant reported in Short-rib thoracic dysplasia 5 without polydactyly 614376, but this phenotype also includes brachydactyly. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.167 | WDR19 | Sarah Leigh Gene: wdr19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.167 | WDR19 | Sarah Leigh Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.166 | WDR19 | Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Nephronophthisis 13 614377 & Senior-Loken syndrome 8 616307, but these phenotypes are not relevant to the limb disorders panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.166 | WDR19 | Sarah Leigh Phenotypes for gene: WDR19 were changed from ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.165 | WDR19 | Sarah Leigh Publications for gene: WDR19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.164 | WDR19 | Sarah Leigh Phenotypes for gene: WDR19 were changed from Polydactyly to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.163 | WDR34 | Sarah Leigh Marked gene: WDR34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.163 | WDR34 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Short-rib thoracic dysplasia 11 with or without polydactyly 615633 and severe asphyxiating thoracic dysplasia. Although polydactyly is not commonly recorded in this phenotype, the majority of cases have shorted limbs, such that PMID 24183451 reports 5 variants in 4 unrelated cases with short limbs. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.163 | WDR34 | Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.163 | WDR34 | Sarah Leigh Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly 615633 to Short-rib thoracic dysplasia 11 with or without polydactyly 615633; severe asphyxiating thoracic dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.162 | WDR34 | Sarah Leigh Publications for gene: WDR34 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.161 | WDR34 | Sarah Leigh Classified gene: WDR34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.161 | WDR34 | Sarah Leigh Gene: wdr34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.160 | WDR34 | Sarah Leigh Phenotypes for gene: WDR34 were changed from Polydactyly to Short-rib thoracic dysplasia 11 with or without polydactyly 615633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.159 | WDR34 | Sarah Leigh Mode of inheritance for gene: WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.158 | WDR35 | Sarah Leigh Classified gene: WDR35 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.158 | WDR35 | Sarah Leigh Gene: wdr35 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.157 | WDR35 | Sarah Leigh Marked gene: WDR35 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.157 | WDR35 | Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in Cranioectodermal dysplasia 2 613610 and 7 variants reported in Short-rib thoracic dysplasia 7 with or without polydactyly 614091. Both phenotypes are relevant to this panel, supportive evidence also provided from a mouse model (PMID 21473986). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.157 | WDR35 | Sarah Leigh Gene: wdr35 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.157 | WDR35 | Sarah Leigh Publications for gene: WDR35 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.156 | WDR35 | Sarah Leigh Phenotypes for gene: WDR35 were changed from Polydactyly to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.155 | WDR35 | Sarah Leigh Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.154 | ZSWIM6 | Sarah Leigh Classified gene: ZSWIM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.154 | ZSWIM6 | Sarah Leigh Gene: zswim6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.153 | ZSWIM6 | Sarah Leigh commented on gene: ZSWIM6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.153 | ZSWIM6 | Sarah Leigh Tag mosaicism tag was added to gene: ZSWIM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.153 | ZSWIM6 | Sarah Leigh Publications for gene: ZSWIM6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.152 | ZSWIM6 | Sarah Leigh Phenotypes for gene: ZSWIM6 were changed from Polydactyly to Acromelic frontonasal dysostosis 603671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.151 | ZSWIM6 | Sarah Leigh Mode of inheritance for gene: ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.150 | MIR17HG | Eleanor Williams Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2 614326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.149 | FGF9 | Eleanor Williams Added comment: Comment on mode of inheritance: Both cases to date report monoallelic inheritance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.149 | FGF9 | Eleanor Williams Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.148 | BMP2 | Eleanor Williams Added comment: Comment on publications: Added PMID:29129813 another report from 2018 of a duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.148 | BMP2 | Eleanor Williams Publications for gene: BMP2 were set to 19327734; 21357617; 29198724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.147 | BHLHA9 | Eleanor Williams commented on gene: BHLHA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.147 | ARHGAP31 | Eleanor Williams commented on gene: ARHGAP31: PMID: 21565291 (Southgate et al 2011) report that the two variants found have a gain of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.147 | ARHGAP31 | Eleanor Williams commented on gene: ARHGAP31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.147 | ARHGAP31 | Eleanor Williams Publications for gene: ARHGAP31 were set to 21565291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | ZNF141 | Eleanor Williams commented on gene: ZNF141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SOX9 | Eleanor Williams commented on gene: SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SLC25A21 | Eleanor Williams commented on gene: SLC25A21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SHH | Eleanor Williams commented on gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | POLL | Eleanor Williams commented on gene: POLL: Genomics England clinical team notes - Agree with red rating. Part of the critical region of a duplication identified in split hand/foot malformation; no direct evidence this is the causative gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | MIPOL1 | Eleanor Williams commented on gene: MIPOL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | IQCE | Eleanor Williams commented on gene: IQCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | GREM1 | Eleanor Williams commented on gene: GREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | KIAA0586 | Eleanor Williams commented on gene: KIAA0586 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | IFT43 | Eleanor Williams commented on gene: IFT43 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | DYNC2H1 | Eleanor Williams commented on gene: DYNC2H1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | TRPV4 | Eleanor Williams commented on gene: TRPV4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SMOC1 | Eleanor Williams commented on gene: SMOC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SLC26A2 | Eleanor Williams commented on gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | SFRP4 | Eleanor Williams commented on gene: SFRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | PRMT7 | Eleanor Williams commented on gene: PRMT7: Genomics England clinical team notes - Not primarily limb phenotype (skeletal dysplasia + ID), on appropriate panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | PRMT7 | Eleanor Williams Classified gene: PRMT7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | PRMT7 | Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.146 | PRMT7 | Eleanor Williams Gene: prmt7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.145 | PORCN | Eleanor Williams commented on gene: PORCN: Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.145 | PORCN | Eleanor Williams Classified gene: PORCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.145 | PORCN | Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.145 | PORCN | Eleanor Williams Gene: porcn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.144 | PDE3A | Eleanor Williams commented on gene: PDE3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.144 | NEK1 | Eleanor Williams commented on gene: NEK1: Genomics England clinical team notes - Not primarily limb - short rib +/- polydactyly (ciliopathy). On ciliopathy, skeletal dysplasia, clefting and thoracic dystrophies panels already | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.144 | NEK1 | Eleanor Williams Classified gene: NEK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.144 | NEK1 | Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.144 | NEK1 | Eleanor Williams Gene: nek1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.143 | LRP4 | Eleanor Williams commented on gene: LRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.143 | COL2A1 | Eleanor Williams commented on gene: COL2A1: Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.143 | COL2A1 | Eleanor Williams Classified gene: COL2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.143 | COL2A1 | Eleanor Williams Added comment: Comment on list classification: Rated Amber after review by Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.143 | COL2A1 | Eleanor Williams Gene: col2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.142 | CHSY1 | Eleanor Williams commented on gene: CHSY1: Genomics England Clinical team notes - Not primarily limb (Temtamy Preaxial brachydactyly syndrome). Already on skeletal dysplasia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.142 | CHSY1 | Eleanor Williams Classified gene: CHSY1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.142 | CHSY1 | Eleanor Williams Added comment: Comment on list classification: Rated Amber after review from Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.142 | CHSY1 | Eleanor Williams Gene: chsy1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.141 | ORC1 | Eleanor Williams commented on gene: ORC1: Genomics England clinical team notes - Limb not isolated phenotype (Meier-Gorlin), on appropriate panels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.141 | TRAPPC2 | Eleanor Williams commented on gene: TRAPPC2: Genomics England clinical team notes - Presents with short stature (MEDT), on skeletal dysplasia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.141 | TRAPPC2 | Eleanor Williams Classified gene: TRAPPC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.141 | TRAPPC2 | Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice from Genomics England clinical team | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.141 | TRAPPC2 | Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.140 | ORC1 | Eleanor Williams Classified gene: ORC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.140 | ORC1 | Eleanor Williams Added comment: Comment on list classification: Rated Amber on advice on Genomics England clinical team. Limb not isolated phenotype (Meier-Gorlin) on appropriate panels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders v0.140 | ORC1 | Eleanor Williams Gene: orc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLX4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS7 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS29 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS28 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS26 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS24 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS19 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS17 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPS10 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPL5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPL35A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPL26 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPL11 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RAD51C | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PALB2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GATA1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCM | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCL | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCI | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCG | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCF | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCE | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCD2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCC | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCB | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FANCA | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ERCC4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BRIP1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BRCA2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ZSWIM6 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WDR35 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WDR34 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WDR19 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WDPCP | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | USP9X | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | UBE3B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TWIST1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TTC8 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TTC21B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRIM32 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRAF3IP1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TMEM237 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TMEM231 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TMEM216 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TMEM138 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TFAP2B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TFAP2A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TCTN3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TCTN2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TCTEX1D2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TBX22 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SPINT2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SMO | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SDCCAG8 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SC5D | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RBM10 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PROM1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PNPLA6 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PIK3R2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PIK3CA | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PDE6D | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NPHP3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MKKS | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MEGF8 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MBTPS2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LZTFL1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LBR | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | INPP5E | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT80 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT52 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT27 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT172 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT140 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ICK | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | HYLS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | HNRNPK | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GRIP1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GPC3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GLI2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FREM2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FRAS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EVC2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EVC | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EBP | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DYNC2LI1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DDX59 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CSPP1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CKAP2L | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CEP41 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CEP164 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CEP120 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CENPF | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CD96 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CCND2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | C5orf42 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | C2CD3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BMP4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS9 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS7 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS12 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS10 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BBS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | B9D2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | B9D1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ARMC8 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ARL6 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ALX3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ALMS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | AKT3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | AHI1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SOX9 | Rachel Jones reviewed SOX9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLC25A21 | Rachel Jones reviewed SLC25A21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SHH | Rachel Jones reviewed SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IQCE | Rachel Jones reviewed IQCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GREM1 | Rachel Jones reviewed GREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIPOL1 | Rachel Jones reviewed MIPOL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SOX9 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SMOC1 | Ellen McDonagh classified SMOC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SMOC1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PORCN | Ellen McDonagh classified PORCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PORCN | Ellen McDonagh classified PORCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PORCN | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRPV4 | Ellen McDonagh classified TRPV4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRPV4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLC26A2 | Ellen McDonagh classified SLC26A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLC26A2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PRMT7 | Ellen McDonagh classified PRMT7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PRMT7 | Ellen McDonagh classified PRMT7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PRMT7 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PDE3A | Ellen McDonagh classified PDE3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PDE3A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLC25A21 | Ellen McDonagh classified SLC25A21 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SLC25A21 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIPOL1 | Ellen McDonagh marked MIPOL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIPOL1 | Ellen McDonagh classified MIPOL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIPOL1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ZNF141 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | KIAA0586 | Ellen McDonagh classified KIAA0586 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | KIAA0586 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IQCE | Ellen McDonagh marked IQCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IQCE | Ellen McDonagh classified IQCE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IQCE | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NEK1 | Ellen McDonagh classified NEK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NEK1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DYNC2H1 | Ellen McDonagh classified DYNC2H1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DYNC2H1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT43 | Ellen McDonagh classified IFT43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IFT43 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | COL2A1 | Ellen McDonagh classified COL2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | COL2A1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CHSY1 | Ellen McDonagh classified CHSY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CHSY1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SFRP4 | Ellen McDonagh classified SFRP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGF9 | Ellen McDonagh classified FGF9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGD1 | Ellen McDonagh classified FGD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SFRP4 | Ellen McDonagh classified SFRP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SFRP4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL2 | Ellen McDonagh commented on DVL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL3 | Sarah Leigh classified DVL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGD1 | Olivia Niblock reviewed FGD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIR17HG | Sarah Leigh classified MIR17HG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FBLN1 | Sarah Leigh edited their review of FBLN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FBLN1 | Sarah Leigh classified FBLN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | POLL | Eleanor Williams edited their review of POLL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LRP4 | Louise Daugherty classified LRP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | POLL | Eleanor Williams classified POLL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LRP4 | Louise Daugherty edited their review of LRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LRP4 | Louise Daugherty commented on LRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LRP4 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGF9 | Olivia Niblock reviewed FGF9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FMN1 | Louise Daugherty reviewed FMN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EFTUD2 | Sarah Leigh edited their review of EFTUD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NOTCH1 | Louise Daugherty classified NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EFTUD2 | Sarah Leigh classified EFTUD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL2 | Sarah Leigh commented on DVL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLL4 | Sarah Leigh commented on DLL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GREM1 | Olivia Niblock reviewed GREM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BMP2 | Ellen McDonagh classified BMP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLL4 | Sarah Leigh classified DLL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SHH | Sarah Leigh edited their review of SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLX5 | Louise Daugherty reviewed DLX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SEM1 | Louise Daugherty edited their review of SEM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SEM1 | Louise Daugherty commented on SEM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLX6 | Louise Daugherty edited their review of DLX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLX6 | Louise Daugherty reviewed DLX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRAPPC2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ORC1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | POLL | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BTRC | Ellen McDonagh classified BTRC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BTRC | Ellen McDonagh classified BTRC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SHH | Ellen McDonagh classified SHH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SHH | Dimitris Polychronopoulos Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FAM58A | Ellen McDonagh commented on FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SEM1 | Ellen McDonagh commented on SEM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WNT7A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WNT5A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WNT10B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | WDR60 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TRPS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TP63 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TMEM67 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TBX5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TBX4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | TBX3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SMC3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SMC1A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SEM1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SF3B4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SALL4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | SALL1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RPGRIP1L | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ROR2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RNU4ATAC | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RECQL4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RBPJ | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RBM8A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | RAB23 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PTHLH | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PITX1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | PCNT | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | OFD1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NOTCH1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NOG | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | NIPBL | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MYCN | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MKS1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | MIR17HG | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LMX1B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | LMBR1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | KIF7 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | IHH | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | HOXD13 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | HOXA13 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | HDAC4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GREM1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GNAS | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GLI3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GJA1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | GDF5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FMN1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FLNA | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGFR3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGFR2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGFR1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGF9 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGF16 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGF10 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FGD1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FBLN1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | FAM58A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EOGT | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | EFTUD2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL3 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DVL1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DOCK6 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLX6 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLX5 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | DLL4 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CEP290 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | CC2D2A | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BTRC | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BMPR1B | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BMP2 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | BHLHA9 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ARSE | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb disorders | ARHGAP31 | Ellen McDonagh Added gene to panel |