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Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Marked gene: FLVCR1 as ready
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Classified gene: FLVCR1 as Green List (high evidence)
Hand and foot malformations v0.76 FLVCR1 Bryony Thompson Gene: flvcr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.75 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 39306721
Phenotypes for gene: FLVCR1 were set to neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: A study with 30 patients from 23 unrelated families with biallelic ultra-rare missense and predicted loss-of-function variants in FLVCR1 with a novel FLVCR1-related phenotype characterised by severe developmental disorders with profound developmental delay, microcephaly, brain malformations, epilepsy, spasticity, and premature death. Optic disk atrophy, limb and digital malformations, and macrocytic anaemia can be present.
Sources: Literature
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Marked gene: HOXD12 as ready
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Classified gene: HOXD12 as Amber List (moderate evidence)
Hand and foot malformations v0.74 HOXD12 Zornitza Stark Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.73 HOXD12 Zornitza Stark reviewed gene: HOXD12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Clubfoot (non-syndromic) MONDO:0007342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.73 HOXD12 Sangavi Sivagnanasundram gene: HOXD12 was added
gene: HOXD12 was added to Hand and foot malformations. Sources: Other
Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD12 were set to 38663984
Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342
Mode of pathogenicity for gene: HOXD12 was set to Other
Review for gene: HOXD12 was set to GREEN
Added comment: Novel gene-disease association with non-syndromic clubfoot.

10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported).

PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate.

N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: Other
Hand and foot malformations v0.73 MYCN Zornitza Stark Marked gene: MYCN as ready
Hand and foot malformations v0.73 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Hand and foot malformations v0.73 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 to Megalencephaly-polydactyly syndrome, MIM# 620748; Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Hand and foot malformations v0.72 MYCN Zornitza Stark reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.72 MGP Andrew Fennell reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37675773; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.72 DYNC1I1 Zornitza Stark Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related
Hand and foot malformations v0.71 Zornitza Stark HPO terms changed from to Abnormal hand morphology, HP:0005922; Abnormal foot morphology, HP:0001760
List of related panels changed from to Abnormal hand morphology; HP:0005922; Abnormal foot morphology; HP:0001760
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Marked gene: HOXD13 as ready
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.70 HOXD13 Zornitza Stark Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713
Hand and foot malformations v0.69 HOXD13 Zornitza Stark Publications for gene: HOXD13 were set to 12649808; 17236141
Hand and foot malformations v0.68 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 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
Hand and foot malformations v0.67 HOXD13 Zornitza Stark Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Classified gene: HOXD13 as Green List (high evidence)
Hand and foot malformations v0.66 HOXD13 Zornitza Stark Gene: hoxd13 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 HOXD13 Zornitza Stark reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hand and foot malformations v0.65 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Hand and foot malformations v0.65 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.65 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298
Hand and foot malformations v0.64 GDF5 Zornitza Stark Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.64 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.63 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type A1, C, MIM# 615072, Brachydactyly, type A2 MIM#112600, Brachydactyly, type C, MIM# 113100, Symphalangism, proximal, 1B, MIM# 615298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hand and foot malformations v0.63 GDF5 Sue White Classified gene: GDF5 as Red List (low evidence)
Hand and foot malformations v0.63 GDF5 Sue White Gene: gdf5 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.62 HOXD13 Sue White gene: HOXD13 was added
gene: HOXD13 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXD13 were set to 12649808; 17236141
Phenotypes for gene: HOXD13 were set to brachydactyly
Hand and foot malformations v0.61 GDF5 Sue White Classified gene: GDF5 as Green List (high evidence)
Hand and foot malformations v0.61 GDF5 Sue White Gene: gdf5 has been classified as Green List (High Evidence).
Hand and foot malformations v0.60 GDF5 Sue White gene: GDF5 was added
gene: GDF5 was added to Hand and foot malformations. Sources: Literature
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF5 were set to 9288091; 16127465; 12567410
Phenotypes for gene: GDF5 were set to brachydactyly
Penetrance for gene: GDF5 were set to unknown
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.59 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Hand and foot malformations v0.58 ACVR1 Zornitza Stark Tag clinical trial tag was added to gene: ACVR1.
Hand and foot malformations v0.58 UBA2 Zornitza Stark Marked gene: UBA2 as ready
Hand and foot malformations v0.58 UBA2 Zornitza Stark Gene: uba2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.58 UBA2 Zornitza Stark Classified gene: UBA2 as Green List (high evidence)
Hand and foot malformations v0.58 UBA2 Zornitza Stark Gene: uba2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.57 UBA2 Zornitza Stark gene: UBA2 was added
gene: UBA2 was added to Hand and foot malformations. Sources: Expert Review
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267; 34159400
Phenotypes for gene: UBA2 were set to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Review for gene: UBA2 was set to GREEN
Added comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available)

1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing
Sources: Expert Review
Hand and foot malformations v0.56 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Hand and foot malformations v0.56 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.56 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Hand and foot malformations v0.55 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364, 33899511, 31261205, 29924900; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.55 Bryony Thompson Panel name changed from Hand and foot malformation to Hand and foot malformations
Panel status changed from internal to public
Hand and foot malformations v0.54 WNT3 Bryony Thompson Marked gene: WNT3 as ready
Hand and foot malformations v0.54 WNT3 Bryony Thompson Gene: wnt3 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.54 WNT3 Bryony Thompson Publications for gene: WNT3 were set to
Hand and foot malformations v0.53 TGDS Bryony Thompson Marked gene: TGDS as ready
Hand and foot malformations v0.53 TGDS Bryony Thompson Gene: tgds has been classified as Green List (High Evidence).
Hand and foot malformations v0.53 TGDS Bryony Thompson Publications for gene: TGDS were set to
Hand and foot malformations v0.52 TGDS Bryony Thompson Classified gene: TGDS as Green List (high evidence)
Hand and foot malformations v0.52 TGDS Bryony Thompson Gene: tgds has been classified as Green List (High Evidence).
Hand and foot malformations v0.51 TGDS Bryony Thompson reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome MIM#616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.51 SMARCE1 Bryony Thompson Marked gene: SMARCE1 as ready
Hand and foot malformations v0.51 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.51 SMARCE1 Bryony Thompson Publications for gene: SMARCE1 were set to
Hand and foot malformations v0.50 SMARCE1 Bryony Thompson Classified gene: SMARCE1 as Green List (high evidence)
Hand and foot malformations v0.50 SMARCE1 Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.49 SMARCE1 Bryony Thompson edited their review of gene: SMARCE1: Set current diagnostic: yes
Hand and foot malformations v0.49 SMARCE1 Bryony Thompson reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 25169878, 34205270; Phenotypes: Coffin-Siris syndrome 5 MIM#616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Marked gene: SMARCB1 as ready
Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Publications for gene: SMARCB1 were set to
Hand and foot malformations v0.48 SMARCB1 Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence)
Hand and foot malformations v0.48 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.47 SMARCB1 Bryony Thompson reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 25169878; Phenotypes: Coffin-Siris syndrome 3 MIM#614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Marked gene: SMARCA4 as ready
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Gene: smarca4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Publications for gene: SMARCA4 were set to
Hand and foot malformations v0.46 SMARCA4 Bryony Thompson Classified gene: SMARCA4 as Green List (high evidence)
Hand and foot malformations v0.46 SMARCA4 Bryony Thompson Gene: smarca4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.45 SMARCA4 Bryony Thompson reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4 MIM#614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.45 SMARCA2 Bryony Thompson Marked gene: SMARCA2 as ready
Hand and foot malformations v0.45 SMARCA2 Bryony Thompson Gene: smarca2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.45 SMARCA2 Bryony Thompson Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hand and foot malformations v0.44 SMARCA2 Bryony Thompson Publications for gene: SMARCA2 were set to
Hand and foot malformations v0.43 SMARCA2 Bryony Thompson Classified gene: SMARCA2 as Green List (high evidence)
Hand and foot malformations v0.43 SMARCA2 Bryony Thompson Gene: smarca2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.42 RAD21 Bryony Thompson Marked gene: RAD21 as ready
Hand and foot malformations v0.42 RAD21 Bryony Thompson Gene: rad21 has been classified as Green List (High Evidence).
Hand and foot malformations v0.42 RAD21 Bryony Thompson Classified gene: RAD21 as Green List (high evidence)
Hand and foot malformations v0.42 RAD21 Bryony Thompson Gene: rad21 has been classified as Green List (High Evidence).
Hand and foot malformations v0.41 RAD21 Bryony Thompson Publications for gene: RAD21 were set to
Hand and foot malformations v0.40 PHF6 Bryony Thompson Marked gene: PHF6 as ready
Hand and foot malformations v0.40 PHF6 Bryony Thompson Gene: phf6 has been classified as Green List (High Evidence).
Hand and foot malformations v0.40 PHF6 Bryony Thompson Publications for gene: PHF6 were set to
Hand and foot malformations v0.39 PHF6 Bryony Thompson Mode of inheritance for gene: PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hand and foot malformations v0.38 PHF6 Bryony Thompson Classified gene: PHF6 as Green List (high evidence)
Hand and foot malformations v0.38 PHF6 Bryony Thompson Gene: phf6 has been classified as Green List (High Evidence).
Hand and foot malformations v0.37 PHF6 Bryony Thompson edited their review of gene: PHF6: Changed rating: GREEN; Set current diagnostic: yes
Hand and foot malformations v0.37 PHF6 Bryony Thompson reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 19161141, 24092917, 12415272; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hand and foot malformations v0.37 NXN Bryony Thompson Marked gene: NXN as ready
Hand and foot malformations v0.37 NXN Bryony Thompson Gene: nxn has been classified as Green List (High Evidence).
Hand and foot malformations v0.37 NXN Bryony Thompson Publications for gene: NXN were set to
Hand and foot malformations v0.36 NXN Bryony Thompson Classified gene: NXN as Green List (high evidence)
Hand and foot malformations v0.36 NXN Bryony Thompson Gene: nxn has been classified as Green List (High Evidence).
Hand and foot malformations v0.35 LTBP2 Bryony Thompson Marked gene: LTBP2 as ready
Hand and foot malformations v0.35 LTBP2 Bryony Thompson Gene: ltbp2 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.35 LTBP2 Bryony Thompson Publications for gene: LTBP2 were set to
Hand and foot malformations v0.34 LTBP2 Bryony Thompson reviewed gene: LTBP2: Rating: RED; Mode of pathogenicity: None; Publications: 22539340; Phenotypes: Weill-Marchesani syndrome 3, recessive MIM#614819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.34 KMT2A Bryony Thompson Marked gene: KMT2A as ready
Hand and foot malformations v0.34 KMT2A Bryony Thompson Gene: kmt2a has been classified as Green List (High Evidence).
Hand and foot malformations v0.34 KMT2A Bryony Thompson Publications for gene: KMT2A were set to
Hand and foot malformations v0.33 KMT2A Bryony Thompson Classified gene: KMT2A as Green List (high evidence)
Hand and foot malformations v0.33 KMT2A Bryony Thompson Gene: kmt2a has been classified as Green List (High Evidence).
Hand and foot malformations v0.32 KMT2A Bryony Thompson reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22795537, 24886118; Phenotypes: Wiedemann-Steiner syndrome MIM#605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.32 KDM6A Bryony Thompson Marked gene: KDM6A as ready
Hand and foot malformations v0.32 KDM6A Bryony Thompson Gene: kdm6a has been classified as Green List (High Evidence).
Hand and foot malformations v0.32 KDM6A Bryony Thompson Publications for gene: KDM6A were set to
Hand and foot malformations v0.31 KDM6A Bryony Thompson Classified gene: KDM6A as Green List (high evidence)
Hand and foot malformations v0.31 KDM6A Bryony Thompson Gene: kdm6a has been classified as Green List (High Evidence).
Hand and foot malformations v0.30 KDM6A Bryony Thompson reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33674768; Phenotypes: Kabuki syndrome 2 MIM#300867, brachydactyly, clinodactyly; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hand and foot malformations v0.30 IFT57 Bryony Thompson Marked gene: IFT57 as ready
Hand and foot malformations v0.30 IFT57 Bryony Thompson Gene: ift57 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.30 IFT57 Bryony Thompson Publications for gene: IFT57 were set to
Hand and foot malformations v0.29 HDAC4 Bryony Thompson Tag SV/CNV tag was added to gene: HDAC4.
Hand and foot malformations v0.29 HDAC4 Bryony Thompson Publications for gene: HDAC4 were set to
Hand and foot malformations v0.28 HDAC4 Bryony Thompson Classified gene: HDAC4 as Amber List (moderate evidence)
Hand and foot malformations v0.28 HDAC4 Bryony Thompson Gene: hdac4 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.27 FMN1 Bryony Thompson Marked gene: FMN1 as ready
Hand and foot malformations v0.27 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.27 FMN1 Bryony Thompson Phenotypes for gene: FMN1 were changed from to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects
Hand and foot malformations v0.26 FMN1 Bryony Thompson Publications for gene: FMN1 were set to
Hand and foot malformations v0.25 FMN1 Bryony Thompson Mode of inheritance for gene: FMN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.24 FMN1 Bryony Thompson Classified gene: FMN1 as Amber List (moderate evidence)
Hand and foot malformations v0.24 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.23 FMN1 Bryony Thompson Tag SV/CNV tag was added to gene: FMN1.
Hand and foot malformations v0.23 FMN1 Bryony Thompson reviewed gene: FMN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20610440, 19383632, 15202026; Phenotypes: oligosyndactyly, radioulnar synostosis, hearing loss, renal defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.23 FBXW4 Bryony Thompson Marked gene: FBXW4 as ready
Hand and foot malformations v0.23 FBXW4 Bryony Thompson Gene: fbxw4 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.23 FBXW4 Bryony Thompson Publications for gene: FBXW4 were set to
Hand and foot malformations v0.22 FBXW4 Bryony Thompson reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: 12913067, 16235095, 27600068; Phenotypes: Split-hand/foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.22 FBLN1 Bryony Thompson Publications for gene: FBLN1 were set to
Hand and foot malformations v0.21 FBLN1 Bryony Thompson Marked gene: FBLN1 as ready
Hand and foot malformations v0.21 FBLN1 Bryony Thompson Gene: fbln1 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.21 FAT1 Bryony Thompson Marked gene: FAT1 as ready
Hand and foot malformations v0.21 FAT1 Bryony Thompson Gene: fat1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.21 FAT1 Bryony Thompson Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Hand and foot malformations v0.20 FAT1 Bryony Thompson Publications for gene: FAT1 were set to
Hand and foot malformations v0.19 FAT1 Bryony Thompson Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hand and foot malformations v0.18 FAT1 Bryony Thompson Classified gene: FAT1 as Green List (high evidence)
Hand and foot malformations v0.18 FAT1 Bryony Thompson Gene: fat1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.17 EP300 Bryony Thompson Marked gene: EP300 as ready
Hand and foot malformations v0.17 EP300 Bryony Thompson Gene: ep300 has been classified as Green List (High Evidence).
Hand and foot malformations v0.17 EP300 Bryony Thompson Classified gene: EP300 as Green List (high evidence)
Hand and foot malformations v0.17 EP300 Bryony Thompson Added comment: Comment on list classification: Limb anomalies are a feature of Rubinstein-Taybi syndrome
Hand and foot malformations v0.17 EP300 Bryony Thompson Gene: ep300 has been classified as Green List (High Evidence).
Hand and foot malformations v0.16 DYNC1I1 Bryony Thompson Marked gene: DYNC1I1 as ready
Hand and foot malformations v0.16 DYNC1I1 Bryony Thompson Gene: dync1i1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.16 DYNC1I1 Bryony Thompson Phenotypes for gene: DYNC1I1 were changed from to Split-hand/split-foot malformation (SHFM)
Hand and foot malformations v0.15 DYNC1I1 Bryony Thompson Publications for gene: DYNC1I1 were set to
Hand and foot malformations v0.14 DYNC1I1 Bryony Thompson Mode of inheritance for gene: DYNC1I1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.13 DYNC1I1 Bryony Thompson Tag SV/CNV tag was added to gene: DYNC1I1.
Hand and foot malformations v0.13 DYNC1I1 Bryony Thompson Classified gene: DYNC1I1 as Green List (high evidence)
Hand and foot malformations v0.13 DYNC1I1 Bryony Thompson Gene: dync1i1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.12 DYNC1I1 Bryony Thompson reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22914741, 25231166, 32219838; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.12 DPF2 Bryony Thompson Marked gene: DPF2 as ready
Hand and foot malformations v0.12 DPF2 Bryony Thompson Gene: dpf2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.12 DPF2 Bryony Thompson Classified gene: DPF2 as Green List (high evidence)
Hand and foot malformations v0.12 DPF2 Bryony Thompson Gene: dpf2 has been classified as Green List (High Evidence).
Hand and foot malformations v0.11 DPF2 Bryony Thompson reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.11 DLX6 Bryony Thompson Marked gene: DLX6 as ready
Hand and foot malformations v0.11 DLX6 Bryony Thompson Gene: dlx6 has been classified as Red List (Low Evidence).
Hand and foot malformations v0.11 DLX6 Bryony Thompson Phenotypes for gene: DLX6 were changed from Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600 to Split-hand/foot malformation 1 183600
Hand and foot malformations v0.10 DLX6 Bryony Thompson Publications for gene: DLX6 were set to
Hand and foot malformations v0.9 DLX6 Bryony Thompson Mode of inheritance for gene: DLX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.8 DLX6 Bryony Thompson reviewed gene: DLX6: Rating: RED; Mode of pathogenicity: None; Publications: 28611547; Phenotypes: Split-hand and foot malformation (SHFM, MIM 183600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.8 CHUK Bryony Thompson Marked gene: CHUK as ready
Hand and foot malformations v0.8 CHUK Bryony Thompson Gene: chuk has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.8 CHUK Bryony Thompson Publications for gene: CHUK were set to
Hand and foot malformations v0.7 CHUK Bryony Thompson Mode of inheritance for gene: CHUK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hand and foot malformations v0.6 CHUK Bryony Thompson Classified gene: CHUK as Amber List (moderate evidence)
Hand and foot malformations v0.6 CHUK Bryony Thompson Gene: chuk has been classified as Amber List (Moderate Evidence).
Hand and foot malformations v0.5 ARHGAP31 Bryony Thompson Marked gene: ARHGAP31 as ready
Hand and foot malformations v0.5 ARHGAP31 Bryony Thompson Gene: arhgap31 has been classified as Green List (High Evidence).
Hand and foot malformations v0.5 ARHGAP31 Bryony Thompson Publications for gene: ARHGAP31 were set to
Hand and foot malformations v0.4 ARHGAP31 Bryony Thompson reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 21565291, 24668619, 29924900; Phenotypes: Adams-Oliver syndrome 1 MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hand and foot malformations v0.4 Bryony Thompson removed gene:B9D1 from the panel
Hand and foot malformations v0.1 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Hand and foot malformations v0.0 WNT5A Bryony Thompson gene: WNT5A was added
gene: WNT5A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700
Hand and foot malformations v0.0 WNT3 Bryony Thompson gene: WNT3 was added
gene: WNT3 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395
Hand and foot malformations v0.0 WNT10B Bryony Thompson gene: WNT10B was added
gene: WNT10B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300
Hand and foot malformations v0.0 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPV4 were set to Parastremmatic dwarfism 168400; Metatropic dysplasia 156530; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Spondylometaphyseal dysplasia, Kozlowski type 184252; Hereditary motor and sensory neuropathy, type IIc 606071; Brachyolmia type 3 113500; Digital arthropathy-brachydactyly, familial 606835
Hand and foot malformations v0.0 TRPS1 Bryony Thompson gene: TRPS1 was added
gene: TRPS1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III 190351; Trichorhinophalangeal syndrome, type I 190350
Hand and foot malformations v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Rapp-Hodgkin syndrome 129400; Limb-mammary syndrome 603543; Split-hand/foot malformation 4 605289; Orofacial cleft 8 129400; ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
Hand and foot malformations v0.0 TGDS Bryony Thompson gene: TGDS was added
gene: TGDS was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145
Hand and foot malformations v0.0 TBX15 Bryony Thompson gene: TBX15 was added
gene: TBX15 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to Cousin syndrome 260660
Hand and foot malformations v0.0 SOX9 Bryony Thompson gene: SOX9 was added
gene: SOX9 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290
Hand and foot malformations v0.0 SOST Bryony Thompson gene: SOST was added
gene: SOST was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Van Buchem disease 239100; Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860
Hand and foot malformations v0.0 SMC3 Bryony Thompson gene: SMC3 was added
gene: SMC3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759
Hand and foot malformations v0.0 SMC1A Bryony Thompson gene: SMC1A was added
gene: SMC1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SMC1A 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: SMC1A were set to Cornelia de Lange syndrome 2 300590
Hand and foot malformations v0.0 SMARCE1 Bryony Thompson gene: SMARCE1 was added
gene: SMARCE1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938
Hand and foot malformations v0.0 SMARCB1 Bryony Thompson gene: SMARCB1 was added
gene: SMARCB1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3 MIM#614608
Hand and foot malformations v0.0 SMARCA4 Bryony Thompson gene: SMARCA4 was added
gene: SMARCA4 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4 MIM#614609
Hand and foot malformations v0.0 SMARCA2 Bryony Thompson gene: SMARCA2 was added
gene: SMARCA2 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome MIM#601358
Hand and foot malformations v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210
Hand and foot malformations v0.0 SF3B4 Bryony Thompson gene: SF3B4 was added
gene: SF3B4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400
Hand and foot malformations v0.0 ROR2 Bryony Thompson gene: ROR2 was added
gene: ROR2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive 268310; Brachydactyly, type B1 113000
Hand and foot malformations v0.0 RECQL4 Bryony Thompson gene: RECQL4 was added
gene: RECQL4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; RAPILINO syndrome 266280; Baller-Gerold syndrome 218600
Hand and foot malformations v0.0 RBPJ Bryony Thompson gene: RBPJ was added
gene: RBPJ was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814
Hand and foot malformations v0.0 RBM8A Bryony Thompson gene: RBM8A was added
gene: RBM8A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000
Hand and foot malformations v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701
Hand and foot malformations v0.0 PTHLH Bryony Thompson gene: PTHLH was added
gene: PTHLH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTHLH were set to Brachydactyly, type E2 613382
Hand and foot malformations v0.0 PTDSS1 Bryony Thompson gene: PTDSS1 was added
gene: PTDSS1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050
Hand and foot malformations v0.0 PRMT7 Bryony Thompson gene: PRMT7 was added
gene: PRMT7 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Hand and foot malformations v0.0 PRKAR1A Bryony Thompson gene: PRKAR1A was added
gene: PRKAR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRKAR1A were set to Myxoma, intracardiac 255960; Acrodysostosis 1, with or without hormone resistance 101800; Pigmented nodular adrenocortical disease, primary, 1 610489
Hand and foot malformations v0.0 POLR1A Bryony Thompson gene: POLR1A was added
gene: POLR1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462
Hand and foot malformations v0.0 PIGV Bryony Thompson gene: PIGV was added
gene: PIGV was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300
Hand and foot malformations v0.0 PHF6 Bryony Thompson gene: PHF6 was added
gene: PHF6 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome MIM#301900
Hand and foot malformations v0.0 PGM3 Bryony Thompson gene: PGM3 was added
gene: PGM3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23 615816
Hand and foot malformations v0.0 PDE4D Bryony Thompson gene: PDE4D was added
gene: PDE4D was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance 614613
Hand and foot malformations v0.0 PDE3A Bryony Thompson gene: PDE3A was added
gene: PDE3A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410
Hand and foot malformations v0.0 NXN Bryony Thompson gene: NXN was added
gene: NXN was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 MIM#618529
Hand and foot malformations v0.0 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NSDHL 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: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050
Hand and foot malformations v0.0 NOTCH1 Bryony Thompson gene: NOTCH1 was added
gene: NOTCH1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to Limb, scalp and skull defects; AOS; Adams-Oliver syndrome 5, 616028; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)
Hand and foot malformations v0.0 NOG Bryony Thompson gene: NOG was added
gene: NOG was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOG were set to Stapes ankylosis with broad thumb and toes 184460; Symphalangism, proximal, 1A 185800; Multiple synostoses syndrome 1 186500; Tarsal-carpal coalition syndrome 186570; Brachydactyly, type B2 611377
Hand and foot malformations v0.0 NIPBL Bryony Thompson gene: NIPBL was added
gene: NIPBL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470
Hand and foot malformations v0.0 NECTIN4 Bryony Thompson gene: NECTIN4 was added
gene: NECTIN4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573
Hand and foot malformations v0.0 NECTIN1 Bryony Thompson gene: NECTIN1 was added
gene: NECTIN1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
Hand and foot malformations v0.0 MYCN Bryony Thompson gene: MYCN was added
gene: MYCN was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Hand and foot malformations v0.0 MGP Bryony Thompson gene: MGP was added
gene: MGP was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome 245150
Hand and foot malformations v0.0 LTBP3 Bryony Thompson gene: LTBP3 was added
gene: LTBP3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 617809; Dental anomalies and short stature 610216
Hand and foot malformations v0.0 LTBP2 Bryony Thompson gene: LTBP2 was added
gene: LTBP2 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: LTBP2 was set to Unknown
Phenotypes for gene: LTBP2 were set to Weill-Marchesani
Hand and foot malformations v0.0 LRP4 Bryony Thompson gene: LRP4 was added
gene: LRP4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780
Hand and foot malformations v0.0 KMT2D Bryony Thompson gene: KMT2D was added
gene: KMT2D was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 - 147920
Hand and foot malformations v0.0 KMT2A Bryony Thompson gene: KMT2A was added
gene: KMT2A was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130
Hand and foot malformations v0.0 KDM6A Bryony Thompson gene: KDM6A was added
gene: KDM6A was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: KDM6A 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: KDM6A were set to Kabuki syndrome 2 MIM#300867
Hand and foot malformations v0.0 IHH Bryony Thompson gene: IHH was added
gene: IHH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to Brachydactyly, type A1 112500; Acrocapitofemoral dysplasia 607778
Hand and foot malformations v0.0 IFT57 Bryony Thompson gene: IFT57 was added
gene: IFT57 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT57 were set to ?Orofaciodigital syndrome XVIII MIM#617927
Hand and foot malformations v0.0 HDAC8 Bryony Thompson gene: HDAC8 was added
gene: HDAC8 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
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 Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882
Hand and foot malformations v0.0 HDAC4 Bryony Thompson gene: HDAC4 was added
gene: HDAC4 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability
Hand and foot malformations v0.0 GSC Bryony Thompson gene: GSC was added
gene: GSC was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471
Hand and foot malformations v0.0 GNAS Bryony Thompson gene: GNAS was added
gene: GNAS was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: GNAS were set to McCune-Albright syndrome, somatic, mosaic 174800; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233
Hand and foot malformations v0.0 GJA1 Bryony Thompson gene: GJA1 was added
gene: GJA1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1 241550; Syndactyly, type III 186100; Oculodentodigital dysplasia 164200; Palmoplantar keratoderma with congenital alopecia 104100; Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Oculodentodigital dysplasia, autosomal recessive 257850
Hand and foot malformations v0.0 GDF6 Bryony Thompson gene: GDF6 was added
gene: GDF6 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF6 were set to Multiple synostoses syndrome type 4 - 617898.; Klippel-Feil syndrome 1, autosomal dominant 118100
Hand and foot malformations v0.0 FZD2 Bryony Thompson gene: FZD2 was added
gene: FZD2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FZD2 were set to Autosomal dominant omodysplasia 164745; Autosomal dominant omodysplasia type 2 164745
Hand and foot malformations v0.0 FMN1 Bryony Thompson gene: FMN1 was added
gene: FMN1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: FMN1 was set to Unknown
Hand and foot malformations v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FLNA 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: FLNA were set to Osteodysplasty Melnick Needles 309350 XLD; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Hand and foot malformations v0.0 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340; Amyotrophic lateral sclerosis 11 612577
Hand and foot malformations v0.0 FGF9 Bryony Thompson gene: FGF9 was added
gene: FGF9 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF9 were set to Multiple synostoses syndrome type 3 612961
Hand and foot malformations v0.0 FBXW4 Bryony Thompson gene: FBXW4 was added
gene: FBXW4 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: FBXW4 was set to Unknown
Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560
Hand and foot malformations v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan syndrome 154700; Weill-Marchesani syndrome 2, dominant 608328; Stiff skin syndrome 184900; Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185
Hand and foot malformations v0.0 FBLN1 Bryony Thompson gene: FBLN1 was added
gene: FBLN1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
Hand and foot malformations v0.0 FAT1 Bryony Thompson gene: FAT1 was added
gene: FAT1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: FAT1 was set to Unknown
Hand and foot malformations v0.0 ESCO2 Bryony Thompson gene: ESCO2 was added
gene: ESCO2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300
Hand and foot malformations v0.0 EP300 Bryony Thompson gene: EP300 was added
gene: EP300 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 180849
Hand and foot malformations v0.0 EOGT Bryony Thompson gene: EOGT was added
gene: EOGT was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams Oliver syndrome 4
Hand and foot malformations v0.0 DYNC1I1 Bryony Thompson gene: DYNC1I1 was added
gene: DYNC1I1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: DYNC1I1 was set to Unknown
Hand and foot malformations v0.0 DVL3 Bryony Thompson gene: DVL3 was added
gene: DVL3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Hand and foot malformations v0.0 DVL1 Bryony Thompson gene: DVL1 was added
gene: DVL1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2, MIM# 616331
Hand and foot malformations v0.0 DPF2 Bryony Thompson gene: DPF2 was added
gene: DPF2 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DPF2 were set to Coffin-Siris syndrome 7 MIM#618027
Hand and foot malformations v0.0 DOCK6 Bryony Thompson gene: DOCK6 was added
gene: DOCK6 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219
Hand and foot malformations v0.0 DLX6 Bryony Thompson gene: DLX6 was added
gene: DLX6 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: DLX6 was set to Unknown
Phenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 183600; Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Hand and foot malformations v0.0 DLX5 Bryony Thompson gene: DLX5 was added
gene: DLX5 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600
Hand and foot malformations v0.0 DLL4 Bryony Thompson gene: DLL4 was added
gene: DLL4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589
Hand and foot malformations v0.0 DHODH Bryony Thompson gene: DHODH was added
gene: DHODH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750
Hand and foot malformations v0.0 DHCR7 Bryony Thompson gene: DHCR7 was added
gene: DHCR7 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Hand and foot malformations v0.0 CREBBP Bryony Thompson gene: CREBBP was added
gene: CREBBP was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849
Hand and foot malformations v0.0 CHUK Bryony Thompson gene: CHUK was added
gene: CHUK was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHUK were set to ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339; Cocoon syndrome MIM#613630
Hand and foot malformations v0.0 CHSY1 Bryony Thompson gene: CHSY1 was added
gene: CHSY1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282
Hand and foot malformations v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Hand and foot malformations v0.0 FAM58A Bryony Thompson gene: FAM58A was added
gene: FAM58A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FAM58A 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: FAM58A were set to STAR syndrome 300707
Hand and foot malformations v0.0 CACNA1C Bryony Thompson gene: CACNA1C was added
gene: CACNA1C was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CACNA1C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1C were set to Timothy syndrome MIM#601005
Hand and foot malformations v0.0 BMPR1B Bryony Thompson gene: BMPR1B was added
gene: BMPR1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600
Hand and foot malformations v0.0 BMP2 Bryony Thompson gene: BMP2 was added
gene: BMP2 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMP2 were set to Brachydactyly, type A2 112600; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
Hand and foot malformations v0.0 B9D1 Bryony Thompson gene: B9D1 was added
gene: B9D1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D1 were set to Meckel syndrome 9 614209
Hand and foot malformations v0.0 B3GLCT Bryony Thompson gene: B3GLCT was added
gene: B3GLCT was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Peters-plus syndrome 261540
Hand and foot malformations v0.0 ARID1B Bryony Thompson gene: ARID1B was added
gene: ARID1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900
Hand and foot malformations v0.0 ARID1A Bryony Thompson gene: ARID1A was added
gene: ARID1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1A were set to Coffin-Siris
Hand and foot malformations v0.0 ARHGAP31 Bryony Thompson gene: ARHGAP31 was added
gene: ARHGAP31 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300
Hand and foot malformations v0.0 ANKRD11 Bryony Thompson gene: ANKRD11 was added
gene: ANKRD11 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG syndrome 148050
Hand and foot malformations v0.0 AFF4 Bryony Thompson gene: AFF4 was added
gene: AFF4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AFF4 were set to CHOPS syndrome MIM#616368
Hand and foot malformations v0.0 ADAMTS17 Bryony Thompson gene: ADAMTS17 was added
gene: ADAMTS17 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani syndrome type 4
Hand and foot malformations v0.0 ADAMTS10 Bryony Thompson gene: ADAMTS10 was added
gene: ADAMTS10 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, 277600
Hand and foot malformations v0.0 ACVR1 Bryony Thompson gene: ACVR1 was added
gene: ACVR1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100
Hand and foot malformations v0.0 Bryony Thompson Added panel Hand and foot malformation