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Hypertrophic cardiomyopathy - teen and adult v1.50 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 JPH2 Matthew Edwards reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 TNNC1 Matthew Edwards reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 MYL2 Matthew Edwards reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 MYL3 Matthew Edwards reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy - teen and adult v1.50 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 MYBPC3 Matthew Edwards reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy - teen and adult v1.50 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 TRDN Matthew Edwards reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, ARVC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.10 CASQ2 Matthew Edwards reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16908766; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catecholaminergic polymorphic VT v1.10 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT, LQTS 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 CAV3 Matthew Edwards reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: 17060380; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.95 ZNHIT3 Ivone Leong Phenotypes for gene: ZNHIT3 were changed from to Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565
Optic neuropathy v1.94 ZNHIT3 Ivone Leong Publications for gene: ZNHIT3 were set to
Optic neuropathy v1.93 ZNHIT3 Ivone Leong Mode of inheritance for gene: ZNHIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.92 YME1L1 Ivone Leong Phenotypes for gene: YME1L1 were changed from to Optic atrophy 617302; sensorineural hearing impairment; ataxia; other CNS symptoms (OPA11)
Optic neuropathy v1.91 YME1L1 Ivone Leong Publications for gene: YME1L1 were set to
Optic neuropathy v1.90 YME1L1 Ivone Leong Mode of inheritance for gene: YME1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.89 TSFM Ivone Leong Phenotypes for gene: TSFM were changed from to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505
Optic neuropathy v1.88 TSFM Ivone Leong Publications for gene: TSFM were set to
Optic neuropathy v1.87 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.86 TBC1D20 Ivone Leong Phenotypes for gene: TBC1D20 were changed from to WARBURG MICRO SYNDROME 4 615663
Optic neuropathy v1.85 TBC1D20 Ivone Leong Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 SNTA1 Matthew Edwards reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.84 SPG7 Ivone Leong Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Optic neuropathy v1.83 SPG7 Ivone Leong Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.82 SDHA Ivone Leong Phenotypes for gene: SDHA were changed from to Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Optic neuropathy v1.81 SDHA Ivone Leong Publications for gene: SDHA were set to
Optic neuropathy v1.80 SDHA Ivone Leong Mode of inheritance for gene: SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.79 RAB3GAP1 Ivone Leong Phenotypes for gene: RAB3GAP1 were changed from to WARBURG MICRO SYNDROME 1, 600118
Optic neuropathy v1.78 RAB3GAP1 Ivone Leong Publications for gene: RAB3GAP1 were set to
Optic neuropathy v1.77 RAB3GAP1 Ivone Leong Mode of inheritance for gene: RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.76 NEFH Ivone Leong Phenotypes for gene: NEFH were changed from to CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924
Optic neuropathy v1.75 NEFH Ivone Leong Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.74 NDUFS3 Ivone Leong Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8, 618230
Optic neuropathy v1.73 NDUFS3 Ivone Leong Publications for gene: NDUFS3 were set to
Optic neuropathy v1.72 NDUFS3 Ivone Leong Mode of inheritance for gene: NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.71 NDUFS2 Ivone Leong Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, 618228
Optic neuropathy v1.70 NDUFS2 Ivone Leong Publications for gene: NDUFS2 were set to
Optic neuropathy v1.69 NDUFS2 Ivone Leong Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.68 NDUFS1 Ivone Leong Phenotypes for gene: NDUFS1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226
Optic neuropathy v1.67 NDUFS1 Ivone Leong Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.66 MTPAP Ivone Leong Phenotypes for gene: MTPAP were changed from to SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
Optic neuropathy v1.65 MTPAP Ivone Leong Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ5 Matthew Edwards reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 ANK2 Matthew Edwards reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic neuropathy v1.64 LYST Ivone Leong Publications for gene: LYST were set to PMID: 26307451
Optic neuropathy v1.63 KIF7 Ivone Leong Phenotypes for gene: KIF7 were changed from to ACROCALLOSAL SYNDROME, 200990
Optic neuropathy v1.62 KIF7 Ivone Leong Mode of inheritance for gene: KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.61 GP1BA Ivone Leong Mode of inheritance for gene: GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.60 FXN Ivone Leong Phenotypes for gene: FXN were changed from to Friedreich ataxia (FRDA), 229300
Optic neuropathy v1.59 FXN Ivone Leong Publications for gene: FXN were set to
Optic neuropathy v1.58 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.57 DNAJC19 Ivone Leong Phenotypes for gene: DNAJC19 were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
Optic neuropathy v1.56 DNAJC19 Ivone Leong Publications for gene: DNAJC19 were set to
Optic neuropathy v1.55 DNAJC19 Ivone Leong Mode of inheritance for gene: DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.54 AUH Ivone Leong Phenotypes for gene: AUH were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950
Optic neuropathy v1.53 AUH Ivone Leong Mode of inheritance for gene: AUH was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.52 ATAD3A Ivone Leong Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183
Optic neuropathy v1.51 ATAD3A Ivone Leong Publications for gene: ATAD3A were set to
Optic neuropathy v1.50 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.49 ALG3 Ivone Leong Phenotypes for gene: ALG3 were changed from to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110
Optic neuropathy v1.48 ALG3 Ivone Leong Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.47 POLG Ivone Leong Phenotypes for gene: POLG were changed from to PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
Optic neuropathy v1.46 POLG Ivone Leong Mode of inheritance for gene: POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.45 MFF Ivone Leong Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Optic neuropathy v1.44 MFF Ivone Leong Publications for gene: MFF were set to
Optic neuropathy v1.43 MFF Ivone Leong Mode of inheritance for gene: MFF was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.42 DNM1L Ivone Leong Phenotypes for gene: DNM1L were changed from to OPTIC ATROPHY 5, 610708
Optic neuropathy v1.41 DNM1L Ivone Leong Publications for gene: DNM1L were set to
Optic neuropathy v1.40 DNM1L Ivone Leong Mode of inheritance for gene: DNM1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.39 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from to WOLFRAM SYNDROME 2, 604928
Optic neuropathy v1.38 CISD2 Ivone Leong Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.37 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from to SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298
Optic neuropathy v1.36 C19orf12 Ivone Leong Publications for gene: C19orf12 were set to
Optic neuropathy v1.35 C19orf12 Ivone Leong Mode of inheritance for gene: C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.34 C12orf65 Ivone Leong Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
Optic neuropathy v1.33 C12orf65 Ivone Leong Publications for gene: C12orf65 were set to
Optic neuropathy v1.32 C12orf65 Ivone Leong Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.31 AFG3L2 Ivone Leong Phenotypes for gene: AFG3L2 were changed from to SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487; SPINOCEREBELLAR ATAXIA 28, 610246
Optic neuropathy v1.30 AFG3L2 Ivone Leong Publications for gene: AFG3L2 were set to
Optic neuropathy v1.29 AFG3L2 Ivone Leong Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ZNHIT3 Tom Cullup reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020; Phenotypes: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 YME1L1 Tom Cullup reviewed gene: YME1L1: Rating: RED; Mode of pathogenicity: ; Publications: 30544562; Phenotypes: Optic atrophy 617302, sensorineural hearing impairment, ataxia, other CNS symptoms (OPA11); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TSFM Tom Cullup reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: 25037205; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 TBC1D20 Tom Cullup reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WARBURG MICRO SYNDROME 4 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SDHA Tom Cullup reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: 27683074; Phenotypes: Leigh syndrome, 256000, mitochondrial respiratory chain complex II deficiency 252011; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 RAB3GAP1 Tom Cullup reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: ; Publications: 26421802; Phenotypes: WARBURG MICRO SYNDROME 1, 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 NEFH Tom Cullup reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 NDUFS3 Tom Cullup reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS2 Tom Cullup reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: ; Publications: 28031252; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS1 Tom Cullup reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 MTPAP Tom Cullup reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 LYST Tom Cullup reviewed gene: LYST: Rating: RED; Mode of pathogenicity: ; Publications: 26307451, 23521865; Phenotypes: Optic neuropathy in late-onset neurodegenerative Ch diak Higashi syndrome lacking features of ocular albinism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 KIF7 Tom Cullup reviewed gene: KIF7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ACROCALLOSAL SYNDROME, 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 GP1BA Tom Cullup reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 FXN Tom Cullup reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: 19268652; Phenotypes: Friedreich ataxia (FRDA), 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNAJC19 Tom Cullup reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: 27054461, 16055927; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AUH Tom Cullup reviewed gene: AUH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 ATAD3A Tom Cullup reviewed gene: ATAD3A: Rating: RED; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome: optic atrophy, peripheral neuropathy, delayed psychomotor development, intellectual disability, spastic paraplegia (HAYOS), 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 ALG3 Tom Cullup reviewed gene: ALG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 WFS1 Tom Cullup reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TMEM126A Tom Cullup reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19327736, 20405026, 22815638; Phenotypes: Optic Atrophy, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 TIMM8A Tom Cullup reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11803487; Phenotypes: deafness-dystonia-optic neuropathy syndrome, Mohr-Tranebjaerg syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Optic neuropathy v1.28 SPG7 Tom Cullup reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 SLC52A2 Tom Cullup reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23243084, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 SLC25A46 Tom Cullup reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 26168012, 28369803; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 RTN4IP1 Tom Cullup reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: early-onset recessive optic neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 POLG Tom Cullup reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 OPA3 Tom Cullup reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25159689, 26190011; Phenotypes: Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 OPA1 Tom Cullup reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Optic neuropathy v1.28 NR2F1 Tom Cullup reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410510, 28963436, 28654857, 26986877, 24462372, 23300014; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Optic neuropathy v1.28 MT-ND6 Tom Cullup reviewed gene: MT-ND6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 24884847, 24417559, 24398099; Phenotypes: Leber hereditary optic neuropathy, Nystagmus, severe infantile-onset complex I deficiency; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND4 Tom Cullup reviewed gene: MT-ND4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 20301353, 27159682, 26683077, 23805034, 23665487, 22553750; Phenotypes: Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ND1 Tom Cullup reviewed gene: MT-ND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 27449621, 20301353, 27177320, 24884847, 24800637, 23665487; Phenotypes: Optic neuropathy and nystagmus, External ophthalmoplegia, Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MT-ATP6 Tom Cullup reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7726182, 10676807, 26448634, 26252090, 24118886 (functional evidence), 23266623; Phenotypes: Leber optic atrophy, 535000, neurogenic weakness, ataxia, and retinitis pigmentosa, retinopathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.28 MFN2 Tom Cullup reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26955893, 26306937, 21715711; Phenotypes: Optic Atrophy, Hereditary motor and sensory neuropathy VIA, Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087, Hereditary motor and sensory neuropathy VIA (AD), 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 MFF Tom Cullup reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 30581454, 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 DNM1L Tom Cullup reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28969390; Phenotypes: OPTIC ATROPHY 5, 610708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.28 CISD2 Tom Cullup reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WOLFRAM SYNDROME 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C19orf12 Tom Cullup reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27772766, 26187298, 24209434, 22584950; Phenotypes: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, 615043, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 C12orf65 Tom Cullup reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28091420, 25995486; Phenotypes: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Optic neuropathy v1.28 ACO2 Tom Cullup reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, 616289, optic atrophy, nystagmus, Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 AFG3L2 Tom Cullup reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29181157, 26539208, 30544562; Phenotypes: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE, 614487, SPINOCEREBELLAR ATAXIA 28, 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.27 ZNHIT3 Ivone Leong gene: ZNHIT3 was added
gene: ZNHIT3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to
Optic neuropathy v1.27 YME1L1 Ivone Leong gene: YME1L1 was added
gene: YME1L1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: YME1L1 was set to
Optic neuropathy v1.27 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSFM was set to
Optic neuropathy v1.27 TBC1D20 Ivone Leong gene: TBC1D20 was added
gene: TBC1D20 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TBC1D20 was set to
Optic neuropathy v1.27 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to
Optic neuropathy v1.27 RAB3GAP1 Ivone Leong gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RAB3GAP1 was set to
Optic neuropathy v1.27 NEFH Ivone Leong gene: NEFH was added
gene: NEFH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEFH was set to
Optic neuropathy v1.27 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to
Optic neuropathy v1.27 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to
Optic neuropathy v1.27 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS1 was set to
Optic neuropathy v1.27 MTPAP Ivone Leong gene: MTPAP was added
gene: MTPAP was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTPAP was set to
Optic neuropathy v1.27 LYST Ivone Leong Source London North GLH was added to LYST.
Optic neuropathy v1.27 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIF7 was set to
Optic neuropathy v1.27 GP1BA Ivone Leong Source London North GLH was added to GP1BA.
Optic neuropathy v1.27 FXN Ivone Leong gene: FXN was added
gene: FXN was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FXN was set to
Optic neuropathy v1.27 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to
Optic neuropathy v1.27 AUH Ivone Leong gene: AUH was added
gene: AUH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AUH was set to
Optic neuropathy v1.27 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATAD3A was set to
Optic neuropathy v1.27 ALG3 Ivone Leong gene: ALG3 was added
gene: ALG3 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG3 was set to
Optic neuropathy v1.27 WFS1 Ivone Leong Source London North GLH was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 TMEM126A Ivone Leong Source London North GLH was added to TMEM126A.
Optic neuropathy v1.27 TIMM8A Ivone Leong Source London North GLH was added to TIMM8A.
Optic neuropathy v1.27 SPG7 Ivone Leong Source London North GLH was added to SPG7.
Optic neuropathy v1.27 SLC52A2 Ivone Leong Source London North GLH was added to SLC52A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 SLC25A46 Ivone Leong Source London North GLH was added to SLC25A46.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 RTN4IP1 Ivone Leong Source London North GLH was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: POLG was set to
Optic neuropathy v1.27 OPA3 Ivone Leong Source London North GLH was added to OPA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 OPA1 Ivone Leong Source London North GLH was added to OPA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 NR2F1 Ivone Leong Source London North GLH was added to NR2F1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND6 Ivone Leong Source London North GLH was added to MT-ND6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND4 Ivone Leong Source London North GLH was added to MT-ND4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ND1 Ivone Leong Source London North GLH was added to MT-ND1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MT-ATP6 Ivone Leong Source London North GLH was added to MT-ATP6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFN2 Ivone Leong Source London North GLH was added to MFN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 MFF Ivone Leong gene: MFF was added
gene: MFF was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: MFF was set to
Optic neuropathy v1.27 DNM1L Ivone Leong gene: DNM1L was added
gene: DNM1L was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: DNM1L was set to
Optic neuropathy v1.27 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: CISD2 was set to
Optic neuropathy v1.27 C19orf12 Ivone Leong gene: C19orf12 was added
gene: C19orf12 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C19orf12 was set to
Optic neuropathy v1.27 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: C12orf65 was set to
Optic neuropathy v1.27 ACO2 Ivone Leong Source London North GLH was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy v1.27 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber
Mode of inheritance for gene: AFG3L2 was set to
Long QT syndrome v1.23 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29798782; Phenotypes: Atrial fibrillation, familial, 10 614022, Brugada syndrome 1 601144, Cardiomyopathy, dilated, 1E 601154, Heart block, nonprogressive 113900, Heart block, progressive, type IA 113900, Long QT syndrome-3 603830, Sick sinus syndrome 1 608567, Ventricular fibrillation, familial, 1 603829, Sudden infant death syndrome, susceptibility to272120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNQ1 Matthew Edwards reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ2 Matthew Edwards reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen Tawil syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNH2 Matthew Edwards reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNE2 Matthew Edwards reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNE1 Matthew Edwards reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 CACNA1C Matthew Edwards reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Classified gene: TP53 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.45 TP53 Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Classified gene: TP53 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green
Inherited predisposition to acute myeloid leukaemia (AML) v0.44 TP53 Louise Daugherty Gene: tp53 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.43 TERT Louise Daugherty Publications for gene: TERT were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.42 TERT Louise Daugherty Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid} to 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Classified gene: TERT as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.41 TERT Louise Daugherty Gene: tert has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Classified gene: RUNX1 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.40 RUNX1 Louise Daugherty Gene: runx1 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.39 RUNX1 Louise Daugherty Publications for gene: RUNX1 were set to 19357396; 23926458; 11830488
Inherited predisposition to acute myeloid leukaemia (AML) v0.38 GATA2 Louise Daugherty Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID) to 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to}
Inherited predisposition to acute myeloid leukaemia (AML) v0.37 GATA2 Louise Daugherty Publications for gene: GATA2 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Classified gene: GATA2 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.36 GATA2 Louise Daugherty Gene: gata2 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.35 ANKRD26 Louise Daugherty Publications for gene: ANKRD26 were set to 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.34 CEBPA Louise Daugherty Publications for gene: CEBPA were set to 15575056; 23926458
Inherited predisposition to acute myeloid leukaemia (AML) v0.33 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 2671290930466750; 27895058; 27069254
Inherited predisposition to acute myeloid leukaemia (AML) v0.32 DDX41 Louise Daugherty Publications for gene: DDX41 were set to 25920683; 26712909
Inherited predisposition to acute myeloid leukaemia (AML) v0.31 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.30 ETV6 Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 / 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic
Inherited predisposition to acute myeloid leukaemia (AML) v0.29 TERC Louise Daugherty Phenotypes for gene: TERC were changed from 127550 (OMIM phenotype description ID); 614743 {Aplastic anemia}; 127550 / 614743 {Aplastic anemia} to Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743
Inherited predisposition to acute myeloid leukaemia (AML) v0.28 TERC Louise Daugherty Publications for gene: TERC were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Classified gene: ANKRD26 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.27 ANKRD26 Louise Daugherty Gene: ankrd26 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Classified gene: SAMD9 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.26 SAMD9 Louise Daugherty Gene: samd9 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Classified gene: RTEL1 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.25 RTEL1 Louise Daugherty Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Classified gene: ACD as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.24 ACD Louise Daugherty Gene: acd has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Classified gene: TERC as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.23 TERC Louise Daugherty Gene: terc has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Classified gene: SRP72 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.22 SRP72 Louise Daugherty Gene: srp72 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Classified gene: ETV6 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.21 ETV6 Louise Daugherty Gene: etv6 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Classified gene: CHEK2 as Amber List (moderate evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Inherited predisposition to acute myeloid leukaemia (AML) v0.20 CHEK2 Louise Daugherty Gene: chek2 has been classified as Amber List (Moderate Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 CHEK2 Louise Daugherty Deleted their comment
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Classified gene: DDX41 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.19 DDX41 Louise Daugherty Gene: ddx41 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Classified gene: CHEK2 as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.18 CHEK2 Louise Daugherty Gene: chek2 has been classified as Green List (High Evidence).
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Classified gene: CEBPA as Green List (high evidence)
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Inherited predisposition to acute myeloid leukaemia (AML) v0.17 CEBPA Louise Daugherty Gene: cebpa has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Classified gene: PTPN11 as Red List (low evidence)
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red. This gene is associated to Noonan syndrome
Bleeding and platelet disorders v0.52 PTPN11 Louise Daugherty Gene: ptpn11 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.51 COL5A2 Louise Daugherty Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Classified gene: COL5A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.50 COL5A1 Louise Daugherty Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Classified gene: COL3A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.49 COL3A1 Louise Daugherty Gene: col3a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Classified gene: COL1A1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.48 COL1A1 Louise Daugherty Gene: col1a1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Classified gene: CHST14 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Added comment: Comment on list classification: Discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: Rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.
Bleeding and platelet disorders v0.47 CHST14 Louise Daugherty Gene: chst14 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.46 THBD Louise Daugherty commented on gene: THBD: Use with caution when reporting variants outside the transmembrane domain
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Classified gene: THBD as Green List (high evidence)
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.46 THBD Louise Daugherty Gene: thbd has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Classified gene: SRC as Green List (high evidence)
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.45 SRC Louise Daugherty Gene: src has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Classified gene: SLC45A2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.44 SLC45A2 Louise Daugherty Gene: slc45a2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Classified gene: RBM8A as Green List (high evidence)
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.43 RBM8A Louise Daugherty Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.42 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.41 PTGS1 Louise Daugherty Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.40 PLA2G4A Louise Daugherty Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Classified gene: NBEA as Green List (high evidence)
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.39 NBEA Louise Daugherty Gene: nbea has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty commented on gene: KDSR: Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Classified gene: KDSR as Green List (high evidence)
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.38 KDSR Louise Daugherty Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Classified gene: ITGA2 as Red List (low evidence)
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red.
Bleeding and platelet disorders v0.37 ITGA2 Louise Daugherty Gene: itga2 has been classified as Red List (Low Evidence).
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Classified gene: HOXA11 as Green List (high evidence)
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.36 HOXA11 Louise Daugherty Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Classified gene: GNE as Green List (high evidence)
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.35 GNE Louise Daugherty Gene: gne has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Classified gene: FLNA as Amber List (moderate evidence)
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.34 FLNA Louise Daugherty Gene: flna has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.33 ETV6 Louise Daugherty edited their review of gene: ETV6: Changed rating: AMBER
Bleeding and platelet disorders v0.33 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Changed rating: AMBER
Bleeding and platelet disorders v0.33 CDC42 Louise Daugherty edited their review of gene: CDC42: Changed rating: AMBER
Bleeding and platelet disorders v0.33 ACTB Louise Daugherty Mode of inheritance for gene: ACTB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty edited their review of gene: ACTB: Changed rating: AMBER
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.32 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Changed rating: AMBER
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Classified gene: ABCG8 as Green List (high evidence)
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Bleeding and platelet disorders v0.31 ABCG8 Louise Daugherty Gene: abcg8 has been classified as Green List (High Evidence).
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Classified gene: F2R as Amber List (moderate evidence)
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.
Bleeding and platelet disorders v0.30 F2R Louise Daugherty Gene: f2r has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber
Bleeding and platelet disorders v0.29 EPHB2 Louise Daugherty Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Changed rating: AMBER
Fetal anomalies v0.132 CSNK2A1 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to include more informative OMIM phenotype (MIM:617062).
Fetal anomalies v0.132 CSNK2A1 Rebecca Foulger Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062 to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty commented on gene: ETV6: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Classified gene: ATAD3A as Green List (high evidence)
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team and the clinical team: Sufficient evidence has been provided by the external expert review for this gene to be rated green.
Other aspects of the phenotype may warrant for this gene to be included on alternative specific panels (i.e. intellectual disability); however, not enough evidence is available at the moment. Therefore, this gene has also been added to the "watchlist" so that more cases can be collected.
Undiagnosed metabolic disorders v1.95 ATAD3A Ivone Leong Gene: atad3a has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Tag watchlist tag was added to gene: ATAD3A.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Added comment: Comment on mode of pathogenicity: There is a recurrent missense variant thought to act in a dominant negative manner.
Undiagnosed metabolic disorders v1.94 ATAD3A Ivone Leong Mode of pathogenicity for gene: ATAD3A was changed from None to Other
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Added comment: Comment on mode of inheritance: As the carrier parents of the biallelic cases do not appear to have any phenotype, have given this a biallelic mode of inheritance.
Undiagnosed metabolic disorders v1.93 ATAD3A Ivone Leong Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.131 IGHMBP2 Rebecca Foulger Added comment: Comment on phenotypes: The disorder 'Neuronopathy, distal hereditary motor, type VI, 604320' is also called SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1).
Fetal anomalies v0.131 IGHMBP2 Rebecca Foulger Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Bleeding and platelet disorders v0.28 ETV6 Louise Daugherty edited their review of gene: ETV6: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 EPHB2 Louise Daugherty edited their review of gene: EPHB2: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 DIAPH1 Louise Daugherty edited their review of gene: DIAPH1: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 CDC42 Louise Daugherty edited their review of gene: CDC42: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ABCG8 Louise Daugherty edited their review of gene: ABCG8: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Bleeding and platelet disorders v0.28 ACTB Louise Daugherty edited their review of gene: ACTB: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN
Neurodegenerative disorders - adult onset v1.3 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Neurodegenerative disorders - adult onset v1.3 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'.
Neurodegenerative disorders - adult onset v1.3 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Fetal anomalies v0.130 CSNK2A1 Rebecca Foulger Phenotypes for gene: CSNK2A1 were changed from CSNK2A1 syndrome to CSNK2A1 syndrome; Okur-Chung neurodevelopmental syndrome, 617062
Genetic epilepsy syndromes v1.34 NBEA Ivone Leong Classified gene: NBEA as Green List (high evidence)
Genetic epilepsy syndromes v1.34 NBEA Ivone Leong Gene: nbea has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v1.33 NBEA Ivone Leong gene: NBEA was added
gene: NBEA was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures; No OMIM number
Review for gene: NBEA was set to GREEN
Added comment: NBEA is not associated with any phenotypes in OMIM or Gene2Phenotype. However, there is sufficient evidence provided by Konstantinos Varvagiannis for this gene to be rated green.

Expert review from Konstantinos Varvagiannis: "PMID: 30269351 is a collaborative study reporting on 24 individuals with pathogenic de novo variants affecting NBEA. All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism. Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type. Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24. Among the variants identified: 8/24 were stopgain SNVs 5/24 were frameshift 4/24 were missense SNVs 1/24 was a splice site SNV 5/24 concerned an intragenic NBEA deletion 1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM). Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332). Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA). As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648). Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818). NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism. As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. // NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. // As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels."
Sources: Expert list
Intellectual disability v2.787 NBEA Ivone Leong Classified gene: NBEA as Green List (high evidence)
Intellectual disability v2.787 NBEA Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, there is sufficient evidence has been provided by the external expert review for this gene to be rated green. NBEA is not associated with any phenotypes on OMIM and Gene2Phenotype.
Intellectual disability v2.787 NBEA Ivone Leong Gene: nbea has been classified as Green List (High Evidence).
Fetal anomalies v0.129 C4orf26 Rebecca Foulger Added comment: Comment on phenotypes: Gene2Phenotype list the phenotype as 'AMYELOGENESIS' but this is most likely an error because the OMIM phenotype is 'Amelogenesis imperfecta, type IIA4'. Therefore removed 'AMYELOGENESIS' phenotype and replaced with 'Amelogenesis imperfecta' phenotype from OMIM and PMID:22901946.
Fetal anomalies v0.129 C4orf26 Rebecca Foulger Phenotypes for gene: C4orf26 were changed from AMYELOGENESIS to Amelogenesis imperfecta, type IIA4; 614832
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Classified gene: NFIB as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.44 NFIB Ivone Leong Gene: nfib has been classified as Green List (High Evidence).
Fetal anomalies v0.128 C4orf26 Rebecca Foulger Publications for gene: C4orf26 were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.43 NFIB Ivone Leong gene: NFIB was added
gene: NFIB was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, 618286
Review for gene: NFIB was set to GREEN
Added comment: NFIB is associated with a phenotype in OMIM and probably associated with a phenotype in Gene2Phenotype.
Expert review from Konstantinos Varvagiannis: "Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency. 10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described. Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID. Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex." -- copied from "Intellectual disability" panel (code: 285).
After discussion with the clinical team, it was decided that NFIB is relevant for the " Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders" panel and there is enough evidence to support a gene-disease association. Therefore, NFIB has been given a green gene rating.
Sources: Expert list
Intellectual disability v2.786 NFIB Ivone Leong Classified gene: NFIB as Amber List (moderate evidence)
Intellectual disability v2.786 NFIB Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, it was decided to give NFIB an amber gene rating. Although ID was reported the severity is mild-moderate and on this basis, not considered appropriate for green status on the ID panel. NFIB is associated with a phenotype in OMIM and is probably associated with a phenotype on Gene2Phenotypes. The "Autism Spectrum Disorder" and "watchlist" tags have also been added.
Intellectual disability v2.786 NFIB Ivone Leong Gene: nfib has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.785 NFIB Ivone Leong Tag watchlist tag was added to gene: NFIB.
Tag Autism Spectrum Disorder tag was added to gene: NFIB.
Intellectual disability v2.785 NR4A2 Ivone Leong Tag watchlist tag was added to gene: NR4A2.
Tag Autism Spectrum Disorder tag was added to gene: NR4A2.
Intellectual disability v2.785 NR4A2 Ivone Leong Classified gene: NR4A2 as Amber List (moderate evidence)
Intellectual disability v2.785 NR4A2 Ivone Leong Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: After discussion with the Genomics England Clinical team, it was decided to give NR4A2 an amber gene rating. Although ID was reported the severity is mild-moderate and on this basis, not considered appropriate for green status on the ID panel. The "Autism Spectrum Disorder" tag has also been added.
Intellectual disability v2.785 NR4A2 Ivone Leong Gene: nr4a2 has been classified as Amber List (Moderate Evidence).
DDG2P v1.8 FBXW4 Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other
Genetic epilepsy syndromes v1.32 MPDU1 Rebecca Foulger Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, 609180 to Congenital disorder of glycosylation, type If, 609180; seizures
Genetic epilepsy syndromes v1.31 KMT2E Konstantinos Varvagiannis gene: KMT2E was added
gene: KMT2E was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2E were set to https://doi.org/10.1101/566091
Phenotypes for gene: KMT2E were set to Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size
Penetrance for gene: KMT2E were set to unknown
Review for gene: KMT2E was set to GREEN
Added comment: Gene added in the ID panel (comments below). Epilepsy was a feature in - at least - 11 individuals (with all categories of variants : 4 with truncating, 3 with CNVs, 4 with missense SNVs). As a result this gene can be considered for inclusion in the current panel as green (or amber).

From the ID panel :

In a collaborative study, O'Donnell-Luria et al. (2019 - https://doi.org/10.1101/566091 - DDD study among the co-authors) report on 38 individuals from 36 families with heterozygous KMT2E variants. Some of these individuals were previously included in previous publications.

Developmental delay, intellectual disability, epilepsy and ASD were among the features reported, albeit of variable degree and not universal.

34 of 38 individuals had SNVs or indel variants in KMT2E and 4 individuals had CNVs spanning KMT2E (in one case intragenic, in 3 further as a contiguous gene deletion).

For 26 (of 38 individuals) the variant had arisen as a de novo event while in some cases parental sample(s) was/were unavailable to confirm the de novo occurrence or origin (from a reportedly affected parent). The variant in one family was inherited from a parent for whom information on affected/unaffected status was unavailable.

As for the variants reported: 30 were protein-truncating (of which 23 predicted to produce transcripts subject to NMD). 4 were missense. 4 were CNVs (de novo deletions, of which 1 intragenic).

Truncating variants and deletions of KMT2E suggest haploinsufficiency as the underlying mechanism for this category of variants (KMT2E has a pLI of 1 in gnomAD).

However, the somewhat different phenotype related to missense variants (degree of ID, epilepsy in all, microcephaly in some versus macrocephaly in subjects with truncating variants) may suggest a different mechanism for these variants eg. gain of function or dominant negative effect. There was no clustering observed for the missense variants reported.

Expressivity of certain features may be variable between males and females.

As the authors note : KMT2E encodes a member of the lysine N-methyltransferase 2 family, a family of enzymes with critical role in H3K4 methylation. It is highly expressed in brain, particularly during fetal development. Several monogenic neurodevelopmental disorders due to impaired regulation of H3K4 methylation are known (eg. due to KMT2D/C/B/A mutations, etc). Studies suggest that KMT2E may lack intrinsic methyltransferase activity although it may have an indirect effect on H3K4 methylation. In contrast to other members of the KMT2 family functioning as global activators of open chromatin, KMT2E is believed to be a repressor (although it's function in gene transcription regulation needs to be clarified).

A neurological phenotype of Kmt2e (Mll5) deficiency mouse models has not been reported (features included growth restriction, impaired hematopoiesis, etc).

KMT2E is not associated with any phenotype in OMIM. The gene is included in the DD panel of G2P, associated with Intellectual disability (disease confidence: confirmed / mutation consequence registered in the db : LoF).
KMT2E is included in gene panels for ID offered by some diagnostic laboratories (eg. among those participating in the study).

As a result, this gene can be considered for upgrade to green (or amber).
Sources: Literature
Intellectual disability v2.784 KMT2E Konstantinos Varvagiannis reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1101/56609; Phenotypes: Global developmental delay, Intellectual disability, Autism, Seizures, Abnormality of skull size; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.784 FARS2 Konstantinos Varvagiannis gene: FARS2 was added
gene: FARS2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 30869852
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, autosomal recessive, 617046
Penetrance for gene: FARS2 were set to Complete
Review for gene: FARS2 was set to GREEN
gene: FARS2 was marked as current diagnostic
Added comment: PMID: 30869852 (Almannai et al, 2019) is a review on FARS2 deficiency.

DD/ID and seizures are observed in both infantile- and later-onset forms of the disorder (FARS2-related infantile-onset epileptic mitochondrial encephalopathy and FARS2-related later-onset spastic paraplegia respectively). The phenotype of 26 individuals (from 19 families) and 11 individuals (from 6 families) with infantile and later-onset FARS2 deficiency is summarized in table 2. As commented by the authors, pathogenic variants may include missense, nonsense, splice-site variants, small indels as well as larger deletions/duplications (table 1 and footnote).

The relevant OMIM entries are the following: Combined oxidative phosphorylation deficiency 14 (MIM 614946) and Spastic paraplegia 77, autosomal recessive (MIM 617046).

FARS2 is included in the DD panel of G2P, associated with Neurometabolic disorder due to FARS2 deficiency (disease confidence: confirmed).

This gene is included in gene panels for ID offered by some diagnostic laboratories.

As a result, FARS2 can be considered for inclusion in the ID panel as green (or amber)
Sources: Literature
Intellectual disability v2.784 BRSK2 Konstantinos Varvagiannis gene: BRSK2 was added
gene: BRSK2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRSK2 were set to https://doi.org/10.1016/j.ajhg.2019.02.002
Phenotypes for gene: BRSK2 were set to Global developmental delay; Intellectual disability; Autism; Behavioral abnormality
Penetrance for gene: BRSK2 were set to unknown
Review for gene: BRSK2 was set to GREEN
gene: BRSK2 was marked as current diagnostic
Added comment: Hiatt et al. (2019 - https://doi.org/10.1016/j.ajhg.2019.02.002) report on 9 individuals, each with private heterozygous BRSK2 variant.

Features included among others speech or motor delay, ID (8/9), ASD and variable behavioral anomalies.

6 variants predicted LoF (stopgain, frameshift or affecting splice-site) while 3 additional ones were missense (2 in the protein kinase domain and 1 in the kinase-associated 1 domain). In 6 individuals the variant had occurred as a de novo event while for 3 others parental samples were unavailable. Given the unknown inheritance, a single variant did not meet sufficient ACMG criteria to be classified as P/LP.

All variants had in silico predictions supporting a deleterious effect and were absent from bravo database and gnomAD, where the gene appears to be relatively intolerant to protein-altering variation.

As the authors note BRSK2 encodes a serine/threonine protein kinase involved in axonogenesis and polarization of cortical neurons. Although Brsk2- (or Brsk1-) knockout mice appear to be healthy and fertile, double knockouts for these genes resulted in pups with decreased spontaneous movement, poor response to tactile stimulation that died shortly after birth. In mice Brsk2 (and Brsk1) expression is restricted to the nervous system (PMID cited by the authors: 15705853) while in humans this gene is most highly expressed in brain (PMID cited: 23715323 - GTEx project).

BRSK2 has been shown to interact with other neurodevelopmental genes eg. TSC2, PTEN, WDR45.

Within the cohort of individuals studied, there was statistically significant enrichment for de novo BRSK2 variants when compared to the estimated backround mutation rate.

Two further BRSK2 de novo protein-altering variants were previously reported in individuals with neurodevelopmental disorders (Iossifov et al. - PMID: 25363768 and DDD study - PMID: 28135719) although the missense variant in the latter study is also present in gnomAD database.

BRSK2 is not associated with any phenotype in OMIM, nor in G2P.
The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. among those participating in the study).

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.784 SMARCD1 Konstantinos Varvagiannis reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.ajhg.2019.02.001; Phenotypes: Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Abnormality of the hand, Abnormality of the foot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bardet Biedl syndrome v0.19 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985; Bardet Biedl syndrome 8, 615985 to Bardet-Biedl syndrome 8, 615985
Bardet Biedl syndrome v0.18 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl Syndrome, 615993; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Bardet Biedl syndrome v0.17 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6, 605231; Bardet Biedl syndrome 6, 236700; McKusick-Kaufman syndrome, 236700 to Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700
Bardet Biedl syndrome v0.16 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Bardet Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9, 615986 to Bardet Biedl syndrome 9, 615986
Bardet Biedl syndrome v0.15 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984; Bardet Biedl syndrome 7, 615984 to Bardet-Biedl syndrome 7, 615984
Bardet Biedl syndrome v0.14 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Bardet Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5, 615983 to Bardet Biedl syndrome 5, 615983
Bardet Biedl syndrome v0.13 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982; Bardet Biedl syndrome 4, 615982 to Bardet-Biedl syndrome 4, 615982
Bardet Biedl syndrome v0.12 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981; Bardet Biedl syndrome 2, 615981 to Bardet-Biedl syndrome 2, 615981
Bardet Biedl syndrome v0.11 C8orf37 Tom Cullup reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: Heon et al 2016 PMID: 27008867, Estrada-Cuzcano et al 2012 PMID: 22177090; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16, Retinitis pigmentosa 64 614500 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 IFT74 Tom Cullup reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: ; Publications: Lindstrand et al 2016 PMID 27486776; Phenotypes: ?Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 IFT27 Tom Cullup reviewed gene: IFT27: Rating: RED; Mode of pathogenicity: ; Publications: Aldahmesh et al 2014 PMID: 24488770; Phenotypes: ?Bardet-Biedl syndrome 19 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBIP1 Tom Cullup reviewed gene: BBIP1: Rating: RED; Mode of pathogenicity: ; Publications: Scheidecker et al 2014 PMID: 24026985; Phenotypes: ?Bardet-Biedl syndrome 18 615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 LZTFL1 Tom Cullup reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: Marion et al 2012 PMID: 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 SDCCAG8 Tom Cullup reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: Otto et al 2010 PMID: 20835237; Phenotypes: Bardet-Biedl syndrome 16 615993, Senior-Loken syndrome 7 613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 WDPCP Tom Cullup reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: Kim et al 2010 PMID: 20671153; Phenotypes: ?Bardet-Biedl syndrome 15 615992, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 CEP290 Tom Cullup reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Valente et al 2006 PMID: 16682970, den Hollander et al 2006 PMID: 16909394, Baala et al 2007 PMID: 17160906, Sayer et al 2006 PMID: 16682973; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10 611755, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 MKS1 Tom Cullup reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Kyttala et al 2006 PMID: 16415886, Romani et al 2014 PMID, 24886560; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28 617121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS12 Tom Cullup reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2007 PMID: 17160889; Phenotypes: Bardet-Biedl syndrome 12 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 TRIM32 Tom Cullup reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: Chiang et al 2006 PMID: 16606853, Frosk et al 2002 PMID: 11822024; Phenotypes: ?Bardet-Biedl syndrome 11 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS10 Tom Cullup reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2006 PMID: 16582908; Phenotypes: Bardet-Biedl syndrome 10 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS9 Tom Cullup reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 16380913; Phenotypes: Bardet-Biedl syndrome 9 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 TTC8 Tom Cullup reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: Ansley et al 2003 PMID: 14520415; Phenotypes: Bardet-Biedl syndrome 8 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS7 Tom Cullup reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: Badano et al PMID: 12567324; Phenotypes: Bardet-Biedl syndrome 7 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 MKKS Tom Cullup reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: Katsanis et al 2000 PMID: 10973251, Stone et al 2000 PMID: 10802661; Phenotypes: Bardet-Biedl syndrome 6 605231, McKusick-Kaufman syndrome 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS5 Tom Cullup reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: Li et al 2004 PMID: 15137946; Phenotypes: Bardet-Biedl syndrome 5 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS4 Tom Cullup reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2001 PMID: 11381270; Phenotypes: Bardet-Biedl syndrome 4 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 ARL6 Tom Cullup reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: Chiang et al 2004 PMID: 15258860, Fan et al 2004 PMID: 15314642; Phenotypes: Bardet-Biedl syndrome 3 600151, ?Retinitis pigmentosa 55 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS2 Tom Cullup reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 11285252; Phenotypes: Bardet-Biedl syndrome 2 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.11 BBS1 Tom Cullup reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2002 PMID: 12118255; Phenotypes: Bardet-Biedl syndrome 1 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.10 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from Bardet Biedl syndrome 12, 615989; Bardet-Biedl syndrome 12, 615989 to Bardet Biedl syndrome 12, 615989
Bardet Biedl syndrome v0.9 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from Bardet Biedl syndrome 10, 615987; Bardet-Biedl syndrome 10, 615987 to Bardet Biedl syndrome 10, 615987
Bardet Biedl syndrome v0.8 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900; Bardet Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1, 209900
Bardet Biedl syndrome v0.7 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3, 600151 to ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151
Bardet Biedl syndrome v0.6 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Added phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37
Publications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867
Bardet Biedl syndrome v0.6 IFT74 Ivone Leong Source NHS GMS was added to IFT74.
Added phenotypes ?Bardet-Biedl syndrome 20, 617119 for gene: IFT74
Bardet Biedl syndrome v0.6 IFT27 Ivone Leong Source NHS GMS was added to IFT27.
Added phenotypes ?Bardet-Biedl syndrome 19, 615996 for gene: IFT27
Publications for gene IFT27 were changed from to 24488770
Bardet Biedl syndrome v0.6 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.
Added phenotypes ?Bardet-Biedl syndrome 18, 615995 for gene: BBIP1
Bardet Biedl syndrome v0.6 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1
Publications for gene LZTFL1 were changed from to 22510444
Bardet Biedl syndrome v0.6 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Publications for gene SDCCAG8 were changed from to 20835237
Bardet Biedl syndrome v0.6 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP
Publications for gene WDPCP were changed from to 20671153
Bardet Biedl syndrome v0.6 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394
Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134
Bardet Biedl syndrome v0.6 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121 for gene: MKS1
Publications for gene MKS1 were changed from to 16415886; 20177705; 4886560
Bardet Biedl syndrome v0.6 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Added phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12
Publications for gene BBS12 were changed from to 17160889
Bardet Biedl syndrome v0.6 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
Bardet Biedl syndrome v0.6 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10
Publications for gene BBS10 were changed from to 16582908
Bardet Biedl syndrome v0.6 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9
Publications for gene BBS9 were changed from to 16380913
Bardet Biedl syndrome v0.6 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Publications for gene TTC8 were changed from to 14520415
Bardet Biedl syndrome v0.6 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7
Publications for gene BBS7 were changed from to 12567324
Bardet Biedl syndrome v0.6 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Publications for gene MKKS were changed from to 10973251; 10802661
Bardet Biedl syndrome v0.6 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5
Publications for gene BBS5 were changed from to 15137946
Bardet Biedl syndrome v0.6 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4
Publications for gene BBS4 were changed from to 11381270
Bardet Biedl syndrome v0.6 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Added phenotypes ?Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151 for gene: ARL6
Publications for gene ARL6 were changed from to 15314642; 15258860
Bardet Biedl syndrome v0.6 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2
Publications for gene BBS2 were changed from to 11285252
Bardet Biedl syndrome v0.6 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1
Publications for gene BBS1 were changed from to 12118255
Hypogonadotropic hypogonadism idiopathic v0.5 TFR2 Martina Owens reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 SOX10 Martina Owens reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 SLC40A1 Martina Owens reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 PROP1 Martina Owens reviewed gene: PROP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 NR0B1 Martina Owens reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 LHX4 Martina Owens reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 HFE Martina Owens reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 HAMP Martina Owens reviewed gene: HAMP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 GLI2 Martina Owens reviewed gene: GLI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 CUL4B Martina Owens reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 WDR11 Martina Owens reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 TACR3 Martina Owens reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 TAC3 Martina Owens reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 SOX2 Martina Owens reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 SLC29A3 Martina Owens reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 PROKR2 Martina Owens reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 PROK2 Martina Owens reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 NSMF Martina Owens reviewed gene: NSMF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 LHB Martina Owens reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 KISS1R Martina Owens reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 IL17RD Martina Owens reviewed gene: IL17RD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 GNRHR Martina Owens reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 GNRH1 Martina Owens reviewed gene: GNRH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 FSHB Martina Owens reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 FGFR1 Martina Owens reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 FGF8 Martina Owens reviewed gene: FGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 FEZF1 Martina Owens reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 DCAF17 Martina Owens reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 CHD7 Martina Owens reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.5 ANOS1 Martina Owens reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypogonadotropic hypogonadism idiopathic v0.4 WDR11 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 14 (OMIM 614858) for gene: WDR11
Hypogonadotropic hypogonadism idiopathic v0.4 TFR2 Ivone Leong Added phenotypes Haemochromatosis type 3 (OMIM 604250) for gene: TFR2
Hypogonadotropic hypogonadism idiopathic v0.4 TACR3 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 11(OMIM 614840) for gene: TACR3
Hypogonadotropic hypogonadism idiopathic v0.4 TAC3 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 10(OMIM 614839) for gene: TAC3
Hypogonadotropic hypogonadism idiopathic v0.4 SOX2 Ivone Leong Added phenotypes Syndromic Microphthalmia type 3 (OMIM 206900) for gene: SOX2
Hypogonadotropic hypogonadism idiopathic v0.4 SOX10 Ivone Leong Added phenotypes Waardenburg syndrome type 4C (OMIM 611584) for gene: SOX10
Hypogonadotropic hypogonadism idiopathic v0.4 SLC40A1 Ivone Leong Added phenotypes Haemochromatosis type 4 (OMIM 606069) for gene: SLC40A1
Hypogonadotropic hypogonadism idiopathic v0.4 SLC29A3 Ivone Leong Added phenotypes Histiocytosis-lymphadenopathy plus syndrome (OMIM 602782) - H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism for gene: SLC29A3
Hypogonadotropic hypogonadism idiopathic v0.4 PROP1 Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262600) for gene: PROP1
Hypogonadotropic hypogonadism idiopathic v0.4 PROKR2 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 3 (OMIM 244200) for gene: PROKR2
Hypogonadotropic hypogonadism idiopathic v0.4 PROK2 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 4 (OMIM 610628) for gene: PROK2
Hypogonadotropic hypogonadism idiopathic v0.4 NSMF Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 9 (OMIM 614838) for gene: NSMF
Hypogonadotropic hypogonadism idiopathic v0.4 NR0B1 Ivone Leong Added phenotypes 46XY sex reversal type 2 (OMIM 300018) for gene: NR0B1
Hypogonadotropic hypogonadism idiopathic v0.4 LHX4 Ivone Leong Added phenotypes Combined Pituitary Hormone deficiency (OMIM 262700) for gene: LHX4
Hypogonadotropic hypogonadism idiopathic v0.4 LHB Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 23 (OMIM 228300) for gene: LHB
Hypogonadotropic hypogonadism idiopathic v0.4 KISS1R Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 8 (OMIM 614837) for gene: KISS1R
Hypogonadotropic hypogonadism idiopathic v0.4 IL17RD Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 18 (OMIM 615267) for gene: IL17RD
Hypogonadotropic hypogonadism idiopathic v0.4 HFE Ivone Leong Added phenotypes Haemochromatosis type 1 (OMIM 235200) for gene: HFE
Hypogonadotropic hypogonadism idiopathic v0.4 HAMP Ivone Leong Added phenotypes Haemochromatosis type 2B (OMIM 613313) for gene: HAMP
Hypogonadotropic hypogonadism idiopathic v0.4 GNRHR Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 7 (OMIM 146110) for gene: GNRHR
Hypogonadotropic hypogonadism idiopathic v0.4 GNRH1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 12 (OMIM 614841) for gene: GNRH1
Hypogonadotropic hypogonadism idiopathic v0.4 GLI2 Ivone Leong Added phenotypes Culler-Jones syndrome (OMIM 615849) for gene: GLI2
Hypogonadotropic hypogonadism idiopathic v0.4 FSHB Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 24 (OMIM 229070) for gene: FSHB
Hypogonadotropic hypogonadism idiopathic v0.4 FGFR1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950) for gene: FGFR1
Hypogonadotropic hypogonadism idiopathic v0.4 FGF8 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 6 (OMIM 612702) for gene: FGF8
Hypogonadotropic hypogonadism idiopathic v0.4 FEZF1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1
Hypogonadotropic hypogonadism idiopathic v0.4 DCAF17 Ivone Leong Added phenotypes Woodhouse-Sakati syndrome (OMIM 241080) for gene: DCAF17
Hypogonadotropic hypogonadism idiopathic v0.4 CUL4B Ivone Leong Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B
Hypogonadotropic hypogonadism idiopathic v0.4 CHD7 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 5 (OMIM 612370) for gene: CHD7
Hypogonadotropic hypogonadism idiopathic v0.4 ANOS1 Ivone Leong Added phenotypes Hypogonadotropic hypogonadism type 1 (OMIM 308700) for gene: ANOS1
Hypogonadotropic hypogonadism idiopathic v0.3 WDR11 Ivone Leong gene: WDR11 was added
gene: WDR11 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism idiopathic v0.3 TFR2 Ivone Leong gene: TFR2 was added
gene: TFR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 TACR3 Ivone Leong gene: TACR3 was added
gene: TACR3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 TAC3 Ivone Leong gene: TAC3 was added
gene: TAC3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 SOX2 Ivone Leong gene: SOX2 was added
gene: SOX2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism idiopathic v0.3 SOX10 Ivone Leong gene: SOX10 was added
gene: SOX10 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism idiopathic v0.3 SLC40A1 Ivone Leong gene: SLC40A1 was added
gene: SLC40A1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism idiopathic v0.3 SLC29A3 Ivone Leong gene: SLC29A3 was added
gene: SLC29A3 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 PROP1 Ivone Leong gene: PROP1 was added
gene: PROP1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 PROKR2 Ivone Leong gene: PROKR2 was added
gene: PROKR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: PROKR2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 PROK2 Ivone Leong gene: PROK2 was added
gene: PROK2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: PROK2 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 NSMF Ivone Leong gene: NSMF was added
gene: NSMF was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: NSMF was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 NR0B1 Ivone Leong gene: NR0B1 was added
gene: NR0B1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypogonadotropic hypogonadism idiopathic v0.3 LHX4 Ivone Leong gene: LHX4 was added
gene: LHX4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism idiopathic v0.3 LHB Ivone Leong gene: LHB was added
gene: LHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: LHB was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 KISS1R Ivone Leong gene: KISS1R was added
gene: KISS1R was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 IL17RD Ivone Leong gene: IL17RD was added
gene: IL17RD was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: IL17RD was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 HFE Ivone Leong gene: HFE was added
gene: HFE was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 HAMP Ivone Leong gene: HAMP was added
gene: HAMP was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 GNRHR Ivone Leong gene: GNRHR was added
gene: GNRHR was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 GNRH1 Ivone Leong gene: GNRH1 was added
gene: GNRH1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism idiopathic v0.3 FSHB Ivone Leong gene: FSHB was added
gene: FSHB was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FGFR1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FGF8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 FEZF1 Ivone Leong gene: FEZF1 was added
gene: FEZF1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 DCAF17 Ivone Leong gene: DCAF17 was added
gene: DCAF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v0.3 CUL4B Ivone Leong gene: CUL4B was added
gene: CUL4B was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypogonadotropic hypogonadism idiopathic v0.3 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism idiopathic v0.3 ANOS1 Ivone Leong gene: ANOS1 was added
gene: ANOS1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS
Mode of inheritance for gene: ANOS1 was set to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.148 RNU4ATAC Tracy Lester reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.148 RNU4ATAC Tracy Lester Deleted their review
Sarcoma pertinent cancer susceptibility v1.2 WT1 Ellen McDonagh reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumour 1, 194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 PAX7 Ellen McDonagh reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma 2, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma pertinent cancer susceptibility v1.2 PAX3 Ellen McDonagh reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma pertinent cancer susceptibility v1.2 KRAS Ellen McDonagh reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nevus, Epidermal 162900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 FOXO1 Ellen McDonagh reviewed gene: FOXO1: Rating: RED; Mode of pathogenicity: ; Publications: 25768946; Phenotypes: Rhabdomyosarcoma, alveolar, 268220; Mode of inheritance: Other - please specifiy in evaluation comments
Sarcoma pertinent cancer susceptibility v1.2 DICER1 Ellen McDonagh reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pleuropulmonary blastoma, 601200, Rhabdomyosarcoma, embryonal, 2, 180295; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 CREBBP Ellen McDonagh reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 SDHD Ellen McDonagh reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 SDHC Ellen McDonagh reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 SDHB Ellen McDonagh reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 SDHA Ellen McDonagh reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 KIT Ellen McDonagh reviewed gene: KIT: 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: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 RB1 Ellen McDonagh reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinoblastoma, 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 PMS2 Ellen McDonagh reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.2 NF1 Ellen McDonagh reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, type 1 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 NBN Ellen McDonagh reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen breakage syndrome, 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.2 MSH6 Ellen McDonagh reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.2 MSH2 Ellen McDonagh reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.2 MLH1 Ellen McDonagh reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mismatch repair cancer syndrome, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.2 HRAS Ellen McDonagh reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome, 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 CDKN1C Ellen McDonagh reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, 130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.2 BUB1B Ellen McDonagh reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 1, 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma pertinent cancer susceptibility v1.1 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to Wilms tumour 1, 194070
Sarcoma pertinent cancer susceptibility v1.1 PAX7 Ellen McDonagh gene: PAX7 was added
gene: PAX7 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX7 were set to 25768946
Phenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220
Sarcoma pertinent cancer susceptibility v1.1 PAX3 Ellen McDonagh gene: PAX3 was added
gene: PAX3 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX3 were set to 25768946
Phenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma pertinent cancer susceptibility v1.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Nevus, Epidermal 162900
Sarcoma pertinent cancer susceptibility v1.1 FOXO1 Ellen McDonagh gene: FOXO1 was added
gene: FOXO1 was added to Sarcoma pertinent cancer susceptibility. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: FOXO1 was set to Other - please specifiy in evaluation comments
Publications for gene: FOXO1 were set to 25768946
Phenotypes for gene: FOXO1 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma pertinent cancer susceptibility v1.1 DICER1 Ellen McDonagh gene: DICER1 was added
gene: DICER1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Sarcoma pertinent cancer susceptibility v1.1 CREBBP Ellen McDonagh gene: CREBBP was added
gene: CREBBP was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Sarcoma pertinent cancer susceptibility v1.1 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.1 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.1 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.1 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma pertinent cancer susceptibility v1.1 KIT Ellen McDonagh gene: KIT was added
gene: KIT was added to Sarcoma pertinent cancer susceptibility. Sources: Expert List,Expert Review Amber
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene: KIT was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Sarcoma pertinent cancer susceptibility v1.1 RB1 Ellen McDonagh gene: RB1 was added
gene: RB1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RB1 were set to Retinoblastoma, 180200
Sarcoma pertinent cancer susceptibility v1.1 PMS2 Ellen McDonagh gene: PMS2 was added
gene: PMS2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma pertinent cancer susceptibility v1.1 NF1 Ellen McDonagh gene: NF1 was added
gene: NF1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200
Sarcoma pertinent cancer susceptibility v1.1 NBN Ellen McDonagh gene: NBN was added
gene: NBN was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260
Sarcoma pertinent cancer susceptibility v1.1 MSH6 Ellen McDonagh gene: MSH6 was added
gene: MSH6 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome, 276300
Sarcoma pertinent cancer susceptibility v1.1 MSH2 Ellen McDonagh gene: MSH2 was added
gene: MSH2 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma pertinent cancer susceptibility v1.1 MLH1 Ellen McDonagh gene: MLH1 was added
gene: MLH1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome, 276300
Sarcoma pertinent cancer susceptibility v1.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to Costello syndrome, 218040
Sarcoma pertinent cancer susceptibility v1.1 CDKN1C Ellen McDonagh gene: CDKN1C was added
gene: CDKN1C was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650
Sarcoma pertinent cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300
Familial non syndromic congenital heart disease v1.41 TAB2 Ronnie Wright reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bleeding and platelet disorders v0.28 STX11 Steve Keeney edited their review of gene: STX11: Added comment: Insufficient evidence to include - primary association of variants in this gene relate to familial hemophagocytic lymphohistiocytosis. Reports of increased bleeding tendency are secondary to this.; Changed rating: RED
Ehlers Danlos syndromes v1.41 ZNF469 Eleanor Williams Source NHS GMS was added to ZNF469.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 TNXB Eleanor Williams Source NHS GMS was added to TNXB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 TGFBR2 Eleanor Williams Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 TGFBR1 Eleanor Williams Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 TGFB3 Eleanor Williams Source NHS GMS was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 TGFB2 Eleanor Williams Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 SMAD2 Eleanor Williams Source NHS GMS was added to SMAD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 SKI Eleanor Williams Source NHS GMS was added to SKI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ROBO3 Eleanor Williams Source NHS GMS was added to ROBO3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 RIN2 Eleanor Williams Source NHS GMS was added to RIN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 PRDM5 Eleanor Williams Source NHS GMS was added to PRDM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 PLOD1 Eleanor Williams Source NHS GMS was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 LTBP4 Eleanor Williams Source NHS GMS was added to LTBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 LOX Eleanor Williams Source NHS GMS was added to LOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 FKBP14 Eleanor Williams Source NHS GMS was added to FKBP14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 FBN2 Eleanor Williams Source NHS GMS was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 FBLN5 Eleanor Williams Source NHS GMS was added to FBLN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ELN Eleanor Williams Source NHS GMS was added to ELN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 EFEMP2 Eleanor Williams Source NHS GMS was added to EFEMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 DSE Eleanor Williams Source NHS GMS was added to DSE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL6A3 Eleanor Williams Source NHS GMS was added to COL6A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL6A2 Eleanor Williams Source NHS GMS was added to COL6A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL6A1 Eleanor Williams Source NHS GMS was added to COL6A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL5A2 Eleanor Williams Source NHS GMS was added to COL5A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL5A1 Eleanor Williams Source NHS GMS was added to COL5A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL3A1 Eleanor Williams Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL12A1 Eleanor Williams Source NHS GMS was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 CBS Eleanor Williams Source NHS GMS was added to CBS.
Ehlers Danlos syndromes v1.41 C1S Eleanor Williams Source NHS GMS was added to C1S.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 C1R Eleanor Williams Source NHS GMS was added to C1R.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 BGN Eleanor Williams Source NHS GMS was added to BGN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ATP6V1A Eleanor Williams Source NHS GMS was added to ATP6V1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ATP6V0A2 Eleanor Williams Source NHS GMS was added to ATP6V0A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ALDH18A1 Eleanor Williams Source NHS GMS was added to ALDH18A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 AEBP1 Eleanor Williams Source NHS GMS was added to AEBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ADAMTS2 Eleanor Williams Source NHS GMS was added to ADAMTS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 ABCC6 Eleanor Williams Source NHS GMS was added to ABCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 GGCX Eleanor Williams Source NHS GMS was added to GGCX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Ehlers Danlos syndromes v1.41 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Ehlers Danlos syndromes v1.41 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Ehlers Danlos syndromes v1.41 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndromes v1.41 MYLK Eleanor Williams Source NHS GMS was added to MYLK.
Bleeding and platelet disorders v0.28 F2 Steve Keeney commented on gene: F2: Multiple reports on HGMD in association with prothrombin deficiency.
Osteogenesis imperfecta v1.17 WNT1 Eleanor Williams Source NHS GMS was added to WNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 TMEM38B Eleanor Williams Source NHS GMS was added to TMEM38B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 TAPT1 Eleanor Williams Source NHS GMS was added to TAPT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SPARC Eleanor Williams Source NHS GMS was added to SPARC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SP7 Eleanor Williams Source NHS GMS was added to SP7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SERPINH1 Eleanor Williams Source NHS GMS was added to SERPINH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SERPINF1 Eleanor Williams Source NHS GMS was added to SERPINF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 SEC24D Eleanor Williams Source NHS GMS was added to SEC24D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PPIB Eleanor Williams Source NHS GMS was added to PPIB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PLS3 Eleanor Williams Source NHS GMS was added to PLS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 PLOD2 Eleanor Williams Source NHS GMS was added to PLOD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 P4HB Eleanor Williams Source NHS GMS was added to P4HB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 P3H1 Eleanor Williams Source NHS GMS was added to P3H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 NOTCH2 Eleanor Williams Source NHS GMS was added to NOTCH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 LRP5 Eleanor Williams Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 IFITM5 Eleanor Williams Source NHS GMS was added to IFITM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 FKBP10 Eleanor Williams Source NHS GMS was added to FKBP10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 FAM46A Eleanor Williams Source NHS GMS was added to FAM46A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 CRTAP Eleanor Williams Source NHS GMS was added to CRTAP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 BMP1 Eleanor Williams Source NHS GMS was added to BMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 ALPL Eleanor Williams Source NHS GMS was added to ALPL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Osteogenesis imperfecta v1.17 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Osteogenesis imperfecta v1.17 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Osteogenesis imperfecta v1.17 DSPP Eleanor Williams Source NHS GMS was added to DSPP.
Osteogenesis imperfecta v1.17 NBAS Eleanor Williams Source NHS GMS was added to NBAS.
Osteogenesis imperfecta v1.17 CASR Eleanor Williams Source NHS GMS was added to CASR.
Osteogenesis imperfecta v1.17 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Osteogenesis imperfecta v1.17 CREB3L1 Eleanor Williams Source NHS GMS was added to CREB3L1.
Osteogenesis imperfecta v1.17 TRPV6 Eleanor Williams Source NHS GMS was added to TRPV6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Osteogenesis imperfecta v1.17 NUDT6 Eleanor Williams Source NHS GMS was added to NUDT6.
Rating Changed from No List (delete) to Red List (low evidence)
Osteogenesis imperfecta v1.17 COPB2 Eleanor Williams Source NHS GMS was added to COPB2.
Rating Changed from No List (delete) to Red List (low evidence)
Bleeding and platelet disorders v0.28 RNU4ATAC Steve Keeney reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 210710, # 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.28 LYST Steve Keeney commented on gene: LYST: Classed as tier 1 by ISTH based on "gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meeting".
Polycystic liver disease interim v0.4 DGUOK Ivone Leong Marked gene: DGUOK as ready
Polycystic liver disease interim v0.4 DGUOK Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with portal hypertension. Therefore, this gene has been given a red rating.
Polycystic liver disease interim v0.4 DGUOK Ivone Leong Gene: dguok has been classified as Red List (Low Evidence).
Polycystic liver disease interim v0.4 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Polycystic liver disease interim v0.4 TMEM67 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease interim v0.4 TMEM67 Ivone Leong Gene: tmem67 has been classified as Red List (Low Evidence).
Polycystic liver disease interim v0.4 RPGRIP1L Ivone Leong Marked gene: RPGRIP1L as ready
Polycystic liver disease interim v0.4 RPGRIP1L Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease interim v0.4 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Red List (Low Evidence).
Polycystic liver disease interim v0.4 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Polycystic liver disease interim v0.4 CC2D2A Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Polycystic liver disease interim v0.4 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Red List (Low Evidence).
Polycystic liver disease interim v0.4 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 19574260; 17558409
Phenotypes for gene: RPGRIP1L were set to COACH syndrome (216360); Joubert syndrome 7 (611560); Meckel syndrome 5 (611561)
Polycystic liver disease interim v0.4 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 30234759; 17073823; 26874653
Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068)
Polycystic liver disease interim v0.4 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 19574260; 18513680
Phenotypes for gene: CC2D2A were set to COACH syndrome (216360); congenital hepatic fibrosis; Joubert syndrome 9 (612285); Meckel syndrome 6 (612284)
Polycystic liver disease interim v0.4 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360)
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Cerebellar hypoplasia v1.33 MACF1 Rebecca Foulger Mode of pathogenicity for gene: MACF1 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
Malformations of cortical development v1.167 MACF1 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Malformations of cortical development v1.167 MACF1 Rebecca Foulger Mode of pathogenicity for gene: MACF1 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
Genetic epilepsy syndromes v1.31 MACF1 Rebecca Foulger Phenotypes for gene: MACF1 were changed from Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia to Intellectual disability; Seizures; Lissencephaly; Brainstem dysplasia; Lissencephaly 9 with complex brainstem malformation, 618325
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Cerebellar hypoplasia v1.32 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.31 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Cerebellar hypoplasia. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325
Added comment: Added MACF1 to 'Cerebellar hypoplasia' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Classified gene: MACF1 as Green List (high evidence)
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Malformations of cortical development v1.166 MACF1 Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence).
Malformations of cortical development v1.165 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to Malformations of cortical development. Sources: Literature
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325
Review for gene: MACF1 was set to GREEN
Added comment: Added MACF1 to 'Malformations of cortical development' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Neurodegenerative disorders - adult onset v1.2 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia - childhood onset v1.2 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v1.2 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. Plus literature confirms a childhood onset of HSP: In PMID:28884889, 3 family members developed HSP symptoms at under 1 year. In PMID:28327087, two brothers from a Consanguineous Qatari family age 9 and 3 years with complex HSP had an early-onset phenotype. PMID:29123918 describe an infantile-onset form of recessive HSP.
Hereditary spastic paraplegia - childhood onset v1.2 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 TERT Ivone Leong Marked gene: TERT as ready
Polycystic liver disease interim v0.3 TERT Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 TERC Ivone Leong Marked gene: TERC as ready
Polycystic liver disease interim v0.3 TERC Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 TERC Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 STN1 Ivone Leong Marked gene: STN1 as ready
Polycystic liver disease interim v0.3 STN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 STN1 Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 SEC61B Ivone Leong Marked gene: SEC61B as ready
Polycystic liver disease interim v0.3 SEC61B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 SEC61B Ivone Leong Gene: sec61b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 RTEL1 Ivone Leong Marked gene: RTEL1 as ready
Polycystic liver disease interim v0.3 RTEL1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 RTEL1 Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 B9D1 Ivone Leong Marked gene: B9D1 as ready
Polycystic liver disease interim v0.3 B9D1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease interim v0.3 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease interim v0.3 SEC63 Ivone Leong Marked gene: SEC63 as ready
Polycystic liver disease interim v0.3 SEC63 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 SEC63 Ivone Leong Gene: sec63 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 PRKCSH Ivone Leong Marked gene: PRKCSH as ready
Polycystic liver disease interim v0.3 PRKCSH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 PRKCSH Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 PKHD1 Ivone Leong Marked gene: PKHD1 as ready
Polycystic liver disease interim v0.3 PKHD1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 PKHD1 Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 PKD2 Ivone Leong Marked gene: PKD2 as ready
Polycystic liver disease interim v0.3 PKD2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 PKD2 Ivone Leong Gene: pkd2 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 PKD1 Ivone Leong Marked gene: PKD1 as ready
Polycystic liver disease interim v0.3 PKD1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 PKD1 Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 LRP5 Ivone Leong Marked gene: LRP5 as ready
Polycystic liver disease interim v0.3 LRP5 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 LRP5 Ivone Leong Gene: lrp5 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 GANAB Ivone Leong Marked gene: GANAB as ready
Polycystic liver disease interim v0.3 GANAB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 GANAB Ivone Leong Gene: ganab has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 DNAJB11 Ivone Leong Marked gene: DNAJB11 as ready
Polycystic liver disease interim v0.3 DNAJB11 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 DNAJB11 Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.3 ALG8 Ivone Leong Marked gene: ALG8 as ready
Polycystic liver disease interim v0.3 ALG8 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Polycystic liver disease interim v0.3 ALG8 Ivone Leong Gene: alg8 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TERT were set to 21436073; 19936245; 21483807
Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989)
Polycystic liver disease interim v0.2 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 21436073; 19936245; 22341970
Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)
Polycystic liver disease interim v0.2 STN1 Ivone Leong gene: STN1 was added
gene: STN1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
Polycystic liver disease interim v0.2 SEC61B Ivone Leong gene: SEC61B was added
gene: SEC61B was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC61B were set to 28862642
Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts
Polycystic liver disease interim v0.2 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 28495916
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)
Polycystic liver disease interim v0.2 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21763481; 21493627
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)
Polycystic liver disease interim v0.2 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Polycystic liver disease interim v0.2 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Polycystic liver disease interim v0.2 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Polycystic liver disease interim v0.2 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Polycystic liver disease interim v0.2 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 29321346
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Polycystic liver disease interim v0.2 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD1 were set to 8554072; 3178424; 9211343
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Polycystic liver disease interim v0.2 LRP5 Ivone Leong gene: LRP5 was added
gene: LRP5 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRP5 were set to 25920554
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Polycystic liver disease interim v0.2 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GANAB were set to 29243290; 27259053; 28862642
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Polycystic liver disease interim v0.2 ALG8 Ivone Leong gene: ALG8 was added
gene: ALG8 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALG8 were set to 28375157; 15235028
Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)
Hereditary spastic paraplegia v1.196 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive, 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Ductal plate malformation v1.9 TERT Ivone Leong Source NHS GMS was added to TERT.
Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT
Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807
Ductal plate malformation v1.9 TERC Ivone Leong Source NHS GMS was added to TERC.
Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC
Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970
Ductal plate malformation v1.9 STN1 Ivone Leong Source NHS GMS was added to STN1.
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1
Ductal plate malformation v1.9 SEC61B Ivone Leong Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B
Ductal plate malformation v1.9 RTEL1 Ivone Leong Source NHS GMS was added to RTEL1.
Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1
Ductal plate malformation v1.9 B9D1 Ivone Leong Source NHS GMS was added to B9D1.
Added phenotypes ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) for gene: B9D1
Publications for gene B9D1 were changed from 21493627; 21763481 to 21763481; 21493627
Ductal plate malformation v1.9 SEC63 Ivone Leong Added phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) for gene: SEC63
Ductal plate malformation v1.9 PRKCSH Ivone Leong Added phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) for gene: PRKCSH
Publications for gene PRKCSH were changed from 12529853; 12577059; 11047756; 29038287 to 11047756; 29038287; 12529853; 12577059
Ductal plate malformation v1.9 PKHD1 Ivone Leong Added phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) for gene: PKHD1
Publications for gene PKHD1 were changed from 28862642; 11337358; 11135065; 11919560; 30211211 to 11135065; 30211211; 11919560; 28862642; 11337358
Ductal plate malformation v1.9 PKD2 Ivone Leong Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2
Ductal plate malformation v1.9 PKD1 Ivone Leong Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1
Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343
Ductal plate malformation v1.9 LRP5 Ivone Leong Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5
Ductal plate malformation v1.9 GANAB Ivone Leong Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB
Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642
Ductal plate malformation v1.9 ALG8 Ivone Leong Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8
Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028
Hereditary spastic paraplegia v1.195 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia 45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.194 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spasticparaplegia 45, autosomal recessive 613162
Hereditary spastic paraplegia - childhood onset v1.1 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on curation by Sarah Leigh and feedback from Helen Brittain who notes that there are sufficient cases with a phenotype that includes spasticity to meet the threshold for inclusion; therefore a green rating seems appropriate.
Hereditary spastic paraplegia v1.193 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Fetal anomalies v0.127 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.127 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.126 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
Fetal anomalies v0.126 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Ductal plate malformation v1.8 DNAJB11 Ivone Leong Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Polycystic liver disease interim v0.1 Ivone Leong Panel status changed from internal to public
DDG2P v1.7 FARS2 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation).
DDG2P v1.7 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.6 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.6 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
DDG2P v1.5 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
Ductal plate malformation v1.7 Ivone Leong Panel name changed from Polycystic liver disease to Ductal plate malformation
List of related panels changed from Ductal plate malformation (DPM) to Ductal plate malformation (DPM); Polycystic liver disease
Panel types changed to Rare Disease 100K
Polycystic liver disease interim v0.0 Ivone Leong Added Panel Polycystic liver disease interim
Set panel types to: GMS Rare Disease
DDG2P v1.4 EHMT1 Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528
DDG2P v1.3 EHMT1 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotypes frp, '9Q SUBTELOMERIC DELETION SYNDROME 610253' to 'Kleefstra syndrome' to reflect DD-G2P update.
DDG2P v1.3 EHMT1 Rebecca Foulger Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME 610253 to Kleefstra syndrome
DDG2P v1.2 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to X-linked to reflect change in DD-G2P, and to match other PanelApp panels.
DDG2P v1.2 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.125 GBA Rebecca Foulger Classified gene: GBA as Green List (high evidence)
Fetal anomalies v0.125 GBA Rebecca Foulger Gene: gba has been classified as Green List (High Evidence).
Fetal anomalies v0.124 TALDO1 Rebecca Foulger reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 SOS2 Rebecca Foulger reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 LZTR1 Rebecca Foulger reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 LIPA Rebecca Foulger reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 HBA2 Rebecca Foulger reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 HBA1 Rebecca Foulger reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 SGPL1 Rebecca Foulger reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.124 GBA Rebecca Foulger edited their review of gene: GBA: Added comment: GBA was on the Fetal anomalies panel as an Amber gene based on the DD-Gene2Phenotype rating of 'both DD and IF' for Gaucher diseases. Changed rating from Amber to Green based on Green rating on 'Fetal hydrops' panel (V.16). Lyn Chitty (Great Ormond Street) confirmed that this gene should be included on the Fetal anomalies panel.; Changed rating: GREEN
Fetal anomalies v0.123 TALDO1 Rebecca Foulger gene: TALDO1 was added
gene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Fetal hydrops; Transaldolase deficiency, 606003
Fetal anomalies v0.123 SOS2 Rebecca Foulger gene: SOS2 was added
gene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS2 were set to Fetal hydrops; Noonan syndrome 9, 616559
Fetal anomalies v0.123 LZTR1 Rebecca Foulger gene: LZTR1 was added
gene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Fetal hydrops; Noonan syndrome 10, 616564
Fetal anomalies v0.123 LIPA Rebecca Foulger gene: LIPA was added
gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPA were set to 12666227
Phenotypes for gene: LIPA were set to Fetal hydrops; Wolman disease, 278000; Lysosomal Acid Lipase Deficiency
Fetal anomalies v0.123 HBA2 Rebecca Foulger gene: HBA2 was added
gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 HBA1 Rebecca Foulger gene: HBA1 was added
gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Fetal hydrops; Thalassemia, alpha-, 604131
Fetal anomalies v0.123 SGPL1 Rebecca Foulger gene: SGPL1 was added
gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Fetal hydrops; Nephrotic syndrome type 14, 617575
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 MEN1 Ivone Leong Marked gene: MEN1 as ready
Endocrine neoplasms v0.4 MEN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 RET Ivone Leong Marked gene: RET as ready
Endocrine neoplasms v0.4 RET Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 CDC73 Ivone Leong Marked gene: CDC73 as ready
Endocrine neoplasms v0.4 CDC73 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Endocrine neoplasms v0.4 AIP Ivone Leong Marked gene: AIP as ready
Endocrine neoplasms v0.4 AIP Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Endocrine neoplasms v0.4 AIP Ivone Leong Gene: aip has been classified as Green List (High Evidence).
Endocrine neoplasms v0.3 RET Ivone Leong gene: RET was added
gene: RET was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to MEN2-like spectrum; Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication; Multiple endocrine neoplasia IIA, 171400; Endocrine Cancer; Multiple Endocrine Neoplasia
Endocrine neoplasms v0.3 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Endocrine Cancer; pituitary tumours; Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication; Parathyroid adenoma, somatic; Multiple endocrine neoplasia 1, 131100; Carcinoid tumor of lung; Angiofibroma, somatic; Adrenal adenoma, somatic; Lipoma, somatic; MEN1-like spectrum; Multiple Endocrine Neoplasia
Endocrine neoplasms v0.3 CDKN1B Ivone Leong gene: CDKN1B was added
gene: CDKN1B was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1B were set to Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755
Endocrine neoplasms v0.3 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDC73 were set to Endocrine Cancer
Endocrine neoplasms v0.3 AIP Ivone Leong gene: AIP was added
gene: AIP was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Endocrine Cancer; Pituitary adenoma, growth hormone-secreting, 102200; pituitary tumours; Familial Isolated Pituitary Adenomas; Pituitary adenoma, prolactin-secreting, 600634; Pituitary adenoma, ACTH-secreting, 219090
Inherited phaeochromocytoma and paraganglioma v1.5 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Marked gene: PRKAR1A as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong Gene: prkar1a has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Marked gene: MEN1 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Marked gene: RET as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Marked gene: SDHA as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHA Ivone Leong Gene: sdha has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Marked gene: SDHAF2 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHAF2 Ivone Leong Gene: sdhaf2 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Marked gene: SDHB as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHB Ivone Leong Gene: sdhb has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Marked gene: SDHC as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHC Ivone Leong Gene: sdhc has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Marked gene: SDHD as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 SDHD Ivone Leong Gene: sdhd has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Marked gene: TMEM127 as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 TMEM127 Ivone Leong Gene: tmem127 has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Marked gene: VHL as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 VHL Ivone Leong Gene: vhl has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Marked gene: MAX as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 MAX Ivone Leong Gene: max has been classified as Green List (High Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Marked gene: FH as ready
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.5 FH Ivone Leong Gene: fh has been classified as Green List (High Evidence).
Iron metabolism disorders v0.25 SEC23B Carl Fratter reviewed gene: SEC23B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 VHL Ivone Leong gene: VHL was added
gene: VHL was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 TMEM127 Ivone Leong gene: TMEM127 was added
gene: TMEM127 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to}, 171300
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, 601650; Hereditary Paraganglioma-Pheochromocytoma Syndrome
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHA were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 RET Ivone Leong gene: RET was added
gene: RET was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple Endocrine Neoplasia
Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 PRKAR1A Ivone Leong gene: PRKAR1A was added
gene: PRKAR1A was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Endocrine Cancer; Carney complex
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MEN1 Ivone Leong gene: MEN1 was added
gene: MEN1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia type 1 (MEN1); Multiple Endocrine Neoplasia
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 MAX Ivone Leong gene: MAX was added
gene: MAX was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to PubMed: 21685915; 22429592
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to}, 171300; Hereditary Paraganglioma-Pheochromocytoma Syndrome; pheochromocytomas (PHEOs), paragangliomas (PGLs)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.4 FH Ivone Leong gene: FH was added
gene: FH was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to 23707781; 24334767
Phenotypes for gene: FH were set to PCC/PGL; HLRCC
Iron metabolism disorders v0.25 CDAN1 Carl Fratter reviewed gene: CDAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic epilepsy syndromes v1.30 ATN1 Konstantinos Varvagiannis gene: ATN1 was added
gene: ATN1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Feeding difficulties; Abnormality of the cardiovascular system; Cleft palate; Abnormality of the kidney
Penetrance for gene: ATN1 were set to unknown
Mode of pathogenicity for gene: ATN1 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: ATN1 was set to GREEN
Added comment: Apart from CAG repeat expansions (green in the present panel) seizures have been reported in individuals with mutations in the HX repeat motif (5 unrelated individuals, each with a private variant).

As a result, ATN1 can be considered for inclusion in the Epilepsy panel as green (or amber).

Copied from the ID panel :

Palmer et al. (2019 - PMID: 30827498) report on 8 individuals all harboring de novo missense or insertion variants within a 16-amino-acid HX repeat motif (aa 1150-1065 / 8 HX repeats, where H is histidine and X any amino acid) in exon 7 of ATN1. The specific motif is distal to the Gln-rich region involved in Dentatorubro-pallidoluysian atrophy (caused by polyglutamine expansion in exon 5, due to a probable toxic GoF effect - MIM #125370). None of the subjects reported presented features of the latter disorder.

Common features included hypotonia (8/8) , DD and/or ID (8/8). Other frequent features included visual or hearing impairment, seizures (5/8 - in most presenting as neonatal/infantile onset dev. encephalopathy), feeding difficulties/functional GI disorders. Some individuals presented with congenital anomalies eg. cardiac, cleft palate, renal anomalies, anteriorly placed anus. Some facial (eg. presence of tall forehead, bitemporal narrowing, deep set eyes, sparse lateral hair, bulbous nose, open mouth appearance ,etc) or features of the extremities (overlapping fingers/toes) were also common.

Converging evidence from the literature suggests that ATN1 is a nuclear transcriptional regulator important in the control of brain and other organ development (PMIDs cited: 17150957, 25519973, 10973986). The gene is widely expressed in various tissues incl. brain, heart, lung, kidney, skeletal muscle. Expression is higher in fetal tissues particularly in brain while the gene is broadly expressed in multiple regions of the adult human brain (PMID: 7485154).

All 8 variants were missense SNVs or insertions within the HX repeat motif (aa 1150-1065) and had occurred as de novo events: c.3160C>A or p.His1054Asn, c.3172C>T or p.His1058Tyr, c.3177_3178insAACCTG or p.Ser1059_His1060insAsnLeu, c.3177_3178insGACCTG or p.Ser1059_His1060insAspLeu, c.3178C>T or p.His1060Tyr, c.3184C>G or p.His1062Asp, c.3188T>G or p.Leu1063Arg, c.3185A>G or p.His1062Arg [NM_001007026.1].

NMR studies of 2 commercialy synthesized polypeptides containing residues 1046-1067 of ATN1 and the HX motif suggested disruption in the case of His1060Tyr of the spatial and dynamical synchronization of histidines which is favored by the regularly spaced occurrence of histidines in the wild-type sequence. Under specific conditions introduction of His1060Tyr allowed zinc binding, which was not the case for the wild-type peptide, thus conferring the peptide a novel property (the consequences of which are though unknown). Clustering of the variants and presence of LoF in healthy individuals (eg. in gnomAD db) suggests that haploinsufficiency is unlikely.

Similar (HX)n repeat motifs exist in other proteins, among others RERE or AUTS2 which are associated with neurodevelopmental disorders. The authors comment that disruption of the HX motif in RERE has been reported in affected individuals and that mutations occurring in this motif are more likely to be associated with congenital anomalies, compared to mutations in the rest of the protein.

As for animal models, Atn1 -/- mice are neurologically normal. Knockdown of the gene in rat neuronal progenitor cells led to anomalies in brain development, though these could be rescued by co-transfection with human ATN1 construct (PMIDs cited: 17150957, 25519973).
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In OMIM, heterozygous pathogenic CAG trinucleotide expansions in ATN1 are associated with DRPLA (MIM #125370). The gene is not associated with any phenotype in G2P.
Sources: Literature
Intellectual disability v2.784 ATN1 Konstantinos Varvagiannis reviewed gene: ATN1: 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: 30827498; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Feeding difficulties, Abnormality of the cardiovascular system, Cleft palate, Abnormality of the kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cardiomyopathies - including childhood onset v1.4 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease
Cardiomyopathies - including childhood onset v1.3 Ellen McDonagh List of related panels changed from to Paediatric or syndromic cardiomyopathy
Cardiomyopathies - including childhood onset v1.2 VCL Ellen McDonagh Source South West GLH was added to VCL.
Mode of inheritance for gene VCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TTR Ellen McDonagh Source South West GLH was added to TTR.
Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TTN Ellen McDonagh Source South West GLH was added to TTN.
Cardiomyopathies - including childhood onset v1.2 TSFM Ellen McDonagh Source South West GLH was added to TSFM.
Cardiomyopathies - including childhood onset v1.2 TPM1 Ellen McDonagh Source South West GLH was added to TPM1.
Mode of inheritance for gene TPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TNNT2 Ellen McDonagh Source South West GLH was added to TNNT2.
Mode of inheritance for gene TNNT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TNNI3 Ellen McDonagh Source South West GLH was added to TNNI3.
Mode of inheritance for gene TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 TNNC1 Ellen McDonagh Source South West GLH was added to TNNC1.
Mode of inheritance for gene TNNC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TMPO Ellen McDonagh Source South West GLH was added to TMPO.
Cardiomyopathies - including childhood onset v1.2 TMEM43 Ellen McDonagh Source South West GLH was added to TMEM43.
Mode of inheritance for gene TMEM43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TGFB3 Ellen McDonagh Source South West GLH was added to TGFB3.
Mode of inheritance for gene TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 TCAP Ellen McDonagh Source South West GLH was added to TCAP.
Mode of inheritance for gene TCAP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 TAZ Ellen McDonagh Source South West GLH was added to TAZ.
Mode of inheritance for gene TAZ was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 STK4 Ellen McDonagh gene: STK4 was added
gene: STK4 was added to Cardiomyopathies - including childhood onset. Sources: South West GLH
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 SOS1 Ellen McDonagh Source South West GLH was added to SOS1.
Cardiomyopathies - including childhood onset v1.2 SLC25A4 Ellen McDonagh Source South West GLH was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v1.2 SLC25A20 Ellen McDonagh Source South West GLH was added to SLC25A20.
Cardiomyopathies - including childhood onset v1.2 SLC22A5 Ellen McDonagh Source South West GLH was added to SLC22A5.
Mode of inheritance for gene SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 SHOC2 Ellen McDonagh Source South West GLH was added to SHOC2.
Cardiomyopathies - including childhood onset v1.2 SGCD Ellen McDonagh Source South West GLH was added to SGCD.
Mode of inheritance for gene SGCD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 SDHA Ellen McDonagh Source South West GLH was added to SDHA.
Cardiomyopathies - including childhood onset v1.2 SCO2 Ellen McDonagh Source South West GLH was added to SCO2.
Cardiomyopathies - including childhood onset v1.2 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 RIT1 Ellen McDonagh Source South West GLH was added to RIT1.
Cardiomyopathies - including childhood onset v1.2 RBM20 Ellen McDonagh Source South West GLH was added to RBM20.
Mode of inheritance for gene RBM20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 RAF1 Ellen McDonagh Source South West GLH was added to RAF1.
Cardiomyopathies - including childhood onset v1.2 PTPN11 Ellen McDonagh Source South West GLH was added to PTPN11.
Cardiomyopathies - including childhood onset v1.2 PRKAG2 Ellen McDonagh Source South West GLH was added to PRKAG2.
Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v1.2 PPP1R13L Ellen McDonagh Source South West GLH was added to PPP1R13L.
Cardiomyopathies - including childhood onset v1.2 PNPLA2 Ellen McDonagh gene: PNPLA2 was added
gene: PNPLA2 was added to Cardiomyopathies - including childhood onset. Sources: South West GLH
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 PLN Ellen McDonagh Source South West GLH was added to PLN.
Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 PDLIM3 Ellen McDonagh Source South West GLH was added to PDLIM3.
Cardiomyopathies - including childhood onset v1.2 PCCB Ellen McDonagh Source South West GLH was added to PCCB.
Cardiomyopathies - including childhood onset v1.2 PCCA Ellen McDonagh Source South West GLH was added to PCCA.
Cardiomyopathies - including childhood onset v1.2 NRAS Ellen McDonagh Source South West GLH was added to NRAS.
Cardiomyopathies - including childhood onset v1.2 NEXN Ellen McDonagh Source South West GLH was added to NEXN.
Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 NEBL Ellen McDonagh Source South West GLH was added to NEBL.
Mode of inheritance for gene NEBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MYPN Ellen McDonagh Source South West GLH was added to MYPN.
Mode of inheritance for gene MYPN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 MYL3 Ellen McDonagh Source South West GLH was added to MYL3.
Mode of inheritance for gene MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MYL2 Ellen McDonagh Source South West GLH was added to MYL2.
Mode of inheritance for gene MYL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MYH7 Ellen McDonagh Source South West GLH was added to MYH7.
Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 MYH6 Ellen McDonagh Source South West GLH was added to MYH6.
Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MYBPC3 Ellen McDonagh Source South West GLH was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MUT Ellen McDonagh Source South West GLH was added to MUT.
Cardiomyopathies - including childhood onset v1.2 MMACHC Ellen McDonagh Source South West GLH was added to MMACHC.
Cardiomyopathies - including childhood onset v1.2 MIB1 Ellen McDonagh Source South West GLH was added to MIB1.
Mode of inheritance for gene MIB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 MAP2K2 Ellen McDonagh Source South West GLH was added to MAP2K2.
Cardiomyopathies - including childhood onset v1.2 MAP2K1 Ellen McDonagh Source South West GLH was added to MAP2K1.
Cardiomyopathies - including childhood onset v1.2 LMNA Ellen McDonagh Source South West GLH was added to LMNA.
Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 LDB3 Ellen McDonagh Source South West GLH was added to LDB3.
Mode of inheritance for gene LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 LAMP2 Ellen McDonagh Source South West GLH was added to LAMP2.
Cardiomyopathies - including childhood onset v1.2 LAMA4 Ellen McDonagh Source South West GLH was added to LAMA4.
Mode of inheritance for gene LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 KRAS Ellen McDonagh Source South West GLH was added to KRAS.
Cardiomyopathies - including childhood onset v1.2 JUP Ellen McDonagh Source South West GLH was added to JUP.
Mode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 ILK Ellen McDonagh Source South West GLH was added to ILK.
Cardiomyopathies - including childhood onset v1.2 IDH2 Ellen McDonagh Source South West GLH was added to IDH2.
Mode of inheritance for gene IDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 HRAS Ellen McDonagh Source South West GLH was added to HRAS.
Cardiomyopathies - including childhood onset v1.2 GUSB Ellen McDonagh Source South West GLH was added to GUSB.
Cardiomyopathies - including childhood onset v1.2 GLB1 Ellen McDonagh Source South West GLH was added to GLB1.
Cardiomyopathies - including childhood onset v1.2 GLA Ellen McDonagh Source South West GLH was added to GLA.
Cardiomyopathies - including childhood onset v1.2 GBE1 Ellen McDonagh Source South West GLH was added to GBE1.
Cardiomyopathies - including childhood onset v1.2 GAA Ellen McDonagh Source South West GLH was added to GAA.
Cardiomyopathies - including childhood onset v1.2 FKTN Ellen McDonagh Source South West GLH was added to FKTN.
Cardiomyopathies - including childhood onset v1.2 FHL1 Ellen McDonagh Source South West GLH was added to FHL1.
Mode of inheritance for gene FHL1 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)
Cardiomyopathies - including childhood onset v1.2 EYA4 Ellen McDonagh Source South West GLH was added to EYA4.
Mode of inheritance for gene EYA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 EPG5 Ellen McDonagh Source South West GLH was added to EPG5.
Cardiomyopathies - including childhood onset v1.2 EMD Ellen McDonagh Source South West GLH was added to EMD.
Mode of inheritance for gene EMD 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)
Cardiomyopathies - including childhood onset v1.2 DTNA Ellen McDonagh Source South West GLH was added to DTNA.
Mode of inheritance for gene DTNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 DSP Ellen McDonagh Source South West GLH was added to DSP.
Cardiomyopathies - including childhood onset v1.2 DSG2 Ellen McDonagh Source South West GLH was added to DSG2.
Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 DSC2 Ellen McDonagh Source South West GLH was added to DSC2.
Mode of inheritance for gene DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 DOLK Ellen McDonagh Source South West GLH was added to DOLK.
Cardiomyopathies - including childhood onset v1.2 DNAJC19 Ellen McDonagh Source South West GLH was added to DNAJC19.
Cardiomyopathies - including childhood onset v1.2 DMD Ellen McDonagh Source South West GLH was added to DMD.
Cardiomyopathies - including childhood onset v1.2 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 CTF1 Ellen McDonagh Source South West GLH was added to CTF1.
Cardiomyopathies - including childhood onset v1.2 CSRP3 Ellen McDonagh Source South West GLH was added to CSRP3.
Mode of inheritance for gene CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 CRYAB Ellen McDonagh Source South West GLH was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 CPT2 Ellen McDonagh Source South West GLH was added to CPT2.
Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathies - including childhood onset v1.2 COA5 Ellen McDonagh Source South West GLH was added to COA5.
Cardiomyopathies - including childhood onset v1.2 CBL Ellen McDonagh Source South West GLH was added to CBL.
Cardiomyopathies - including childhood onset v1.2 BRAF Ellen McDonagh Source South West GLH was added to BRAF.
Cardiomyopathies - including childhood onset v1.2 BAG3 Ellen McDonagh Source South West GLH was added to BAG3.
Mode of inheritance for gene BAG3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 ANKRD1 Ellen McDonagh Source South West GLH was added to ANKRD1.
Mode of inheritance for gene ANKRD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 ALMS1 Ellen McDonagh Source Expert Review Red was added to ALMS1.
Added phenotypes cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy for gene: ALMS1
Publications for gene ALMS1 were changed from PMID: 20301444 to PMID: 2030; 1444
Rating Changed from No List (delete) to Red List (low evidence)
Cardiomyopathies - including childhood onset v1.2 ACTN2 Ellen McDonagh Source South West GLH was added to ACTN2.
Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 ACTC1 Ellen McDonagh Source South West GLH was added to ACTC1.
Mode of inheritance for gene ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 ACTA1 Ellen McDonagh Source South West GLH was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathies - including childhood onset v1.2 ACADVL Ellen McDonagh Source South West GLH was added to ACADVL.
Cardiomyopathies - including childhood onset v1.2 ABCC9 Ellen McDonagh Source South West GLH was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated cardiomyopathy - teen and adult v1.49 ALMS1 Ellen McDonagh Classified gene: ALMS1 as Red List (low evidence)
Dilated cardiomyopathy - teen and adult v1.49 ALMS1 Ellen McDonagh Added comment: Comment on list classification: Added to the panel by expert reviewer.
Dilated cardiomyopathy - teen and adult v1.49 ALMS1 Ellen McDonagh Gene: alms1 has been classified as Red List (Low Evidence).
Dilated cardiomyopathy - teen and adult v1.48 ALMS1 Ellen McDonagh Publications for gene: ALMS1 were set to PMID: 2030; 1444
Cerebellar hypoplasia v1.30 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307; 25529582
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Classified gene: ATAD3A as Amber List (moderate evidence)
Cerebellar hypoplasia v1.29 ATAD3A Louise Daugherty Gene: atad3a has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Classified gene: ATAD3A as Green List (high evidence)
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Added comment: Comment on list classification: Based on current information in the literature in view of the number of cases with Cerebellar hypoplasia verses the there is not enough evidence to support gene-disease association rating of this gene to Green. Added watchlist tag.
Cerebellar hypoplasia v1.28 ATAD3A Louise Daugherty Gene: atad3a has been classified as Green List (High Evidence).
Intellectual disability v2.784 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307
Cerebellar hypoplasia v1.27 ATAD3A Louise Daugherty Publications for gene: ATAD3A were set to 27640307
Cerebellar hypoplasia v1.26 ATAD3A Louise Daugherty Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Classified gene: MTM1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Limb girdle muscular dystrophy v1.15 MTM1 Louise Daugherty Gene: mtm1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.14 MTM1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Limb girdle muscular dystrophy v1.14 MTM1 Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400
Cytopenia - NOT Fanconi anaemia v0.31 PARN Mandy nesbitt edited their review of gene: PARN: Changed rating: GREEN; Changed phenotypes: 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616353 Dyskeratosis congenita, autosomal recessive 6
Confirmed Fanconi anaemia or Bloom syndrome v0.20 XRCC2 Mandy nesbitt edited their review of gene: XRCC2: Changed rating: RED
Cardiomyopathies - including childhood onset v1.1 DSP Ellen McDonagh Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.122 STAT1 Ellen McDonagh Marked gene: STAT1 as ready
Fetal anomalies v0.122 STAT1 Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.122 STAT1 Ellen McDonagh Classified gene: STAT1 as Red List (low evidence)
Fetal anomalies v0.122 STAT1 Ellen McDonagh Added comment: Comment on list classification: This gene and phenotype were discussed in a meeting with Lyn Chitty, Anna de Burca, Richard Scott, Ellen McDonagh and Rebecca Foulger (Great Ormond Street, March 11th 2019). This gene-phenotype is not fetally-relevant. Agreed that this gene should be demoted to Red.
Fetal anomalies v0.122 STAT1 Ellen McDonagh Gene: stat1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection v1.87 FLCN Ataf Sabir reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24917291; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 RTEL1 Paula Page gene: RTEL1 was added
gene: RTEL1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to PMID: 30466750; PMID: 29146883
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373
Penetrance for gene: RTEL1 were set to unknown
Review for gene: RTEL1 was set to GREEN
Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. Telomere biology associated gene. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with telomere biology disorders and it is not listed as a TBD in AML ELN Recommendations. In the Telomerase database and associated with MDS, DC and IPF. Recommend Tom Vulliamy's opinion.
Sources: Literature, Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 SAMD9 Paula Page gene: SAMD9 was added
gene: SAMD9 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome 617053
Penetrance for gene: SAMD9 were set to unknown
Mode of pathogenicity for gene: SAMD9 was set to Other
Review for gene: SAMD9 was set to GREEN
Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. It is associated with bone marrow failure syndromes. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with BMFS. Recommend Tom Vulliamy's opinion.
Sources: Literature, Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ACD Paula Page gene: ACD was added
gene: ACD was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Research
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACD were set to 25233904
Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7
Penetrance for gene: ACD were set to unknown
Review for gene: ACD was set to AMBER
gene: ACD was marked as current diagnostic
Added comment: On the current WWMGLH Familial MDS/AML panel. Associated with telomere biology disorders. In the telomerase specific database no association with AML (although aplastic anaemia is present). Not specifically in the WHO/ELN or Godley guidelines unless it is counted as a telomere biology gene. Would recommend advice from Tom Vulliamy.
Sources: Research
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERT Paula Page reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: Dyskeratosis congenita, autosomal dominant 2 613989, Dyskeratosis congenita, autosomal recessive 4 613989, Leukemia, acute myeloid} 601626, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 TERC Paula Page reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1, Aplastic anemia 614743, Pulmonary fibrosis, idiopathic, susceptibility to 614743; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 SRP72 Paula Page reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 29146883, PMID: 26917736; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: None; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 RUNX1 Paula Page reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy, 601626 Leukemia, acute myeloid; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 GATA2 Paula Page reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 614286 {Myelodysplastic syndrome, susceptibility to}, 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ETV6 Paula Page reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 600618 Thrombocytopenia 5, 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.121 MYT1 Rebecca Foulger Phenotypes for gene: MYT1 were changed from Oculo-auriculo-vertebral spectrum (OAVS) to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 DDX41 Paula Page reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.120 MYT1 Rebecca Foulger commented on gene: MYT1: MYT1 was added to the panel as Amber based on a 'Probable' rating in the Additional Gene list supplied by the PAGE group. Note that 'OAVS/Goldenhar syndrome' currently has a 'possible' rating in DD-G2P.
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CHEK2 Paula Page reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.148 ISCA-37441-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37441-Loss.
Skeletal dysplasia v1.148 ISCA-37434-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37434-Loss.
Skeletal dysplasia v1.148 ISCA-37418-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37418-Loss.
Skeletal dysplasia v1.148 ISCA-37406-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37406-Loss.
Skeletal dysplasia v1.148 ISCA-37394-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37394-Loss.
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 CEBPA Paula Page reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 116897, 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited predisposition to acute myeloid leukaemia (AML) v0.16 ANKRD26 Paula Page reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Craniosynostosis v1.48 ISCA-37441-Loss Eleanor Williams Source NHS GMS was added to Region: ISCA-37441-Loss.
Cytopaenias and congenital anaemias v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: GREEN
Cytopaenias and congenital anaemias v1.67 ADA2 Louise Daugherty Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Cytopaenias and congenital anaemias v1.66 ADA2 Louise Daugherty Classified gene: ADA2 as Green List (high evidence)
Cytopaenias and congenital anaemias v1.66 ADA2 Louise Daugherty Added comment: Comment on list classification: Due to new publication there is now enough evidence o rate this gene green
Cytopaenias and congenital anaemias v1.66 ADA2 Louise Daugherty Gene: ada2 has been classified as Green List (High Evidence).
Albinism or congenital nystagmus v0.13 PAX6 Jay Self reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Albinism or congenital nystagmus v0.13 CACNA1A Jay Self reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v1.147 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss
Skeletal dysplasia v1.147 ISCA-37434-Loss Eleanor Williams commented on Region: ISCA-37434-Loss
Skeletal dysplasia v1.147 ISCA-37418-Loss Eleanor Williams commented on Region: ISCA-37418-Loss
Skeletal dysplasia v1.147 ISCA-37406-Loss Eleanor Williams commented on Region: ISCA-37406-Loss
Skeletal dysplasia v1.147 ISCA-37394-Loss Eleanor Williams commented on Region: ISCA-37394-Loss
Craniosynostosis v1.47 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: 11p11.2del (ISCA-37441-Loss); Suggested initial gene rating: green
Tubulointerstitial kidney disease v0.8 MT-TF Daniel Gale gene: MT-TF was added
gene: MT-TF was added to Tubulointerstitial kidney disease. Sources: Literature
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Phenotypes for gene: MT-TF were set to Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal insufficiency; renal failure
Penetrance for gene: MT-TF were set to Complete
Review for gene: MT-TF was set to GREEN
gene: MT-TF was marked as current diagnostic
Added comment: Sources: Literature
Craniosynostosis v1.47 ISCA-37441-Loss Eleanor Williams reviewed Region: ISCA-37441-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 15852040, 16319823, 20140962; Phenotypes: Potocki-Shaffer syndrome, multiple exostoses, biparietal foramina, intellectual disability, strabismus, minor craniofacial anomalies, myopia, ophthalmologic anomalies, 601224, mental retardation, enlarged anterior fontanel, genital abnormalities in males, parietal foramina, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 ZMPSTE24 Tracy Lester reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy 608612, Restrictive dermopathy, lethal 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ZIC1 Tracy Lester reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26340333; Phenotypes: Craniosynostosis 6 616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v1.147 YY1 Tracy Lester reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 XYLT2 Tracy Lester reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26987875; Phenotypes: Spondyloocular syndrome 605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 XYLT1 Tracy Lester reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Desbuquois dysplasia 2 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 XRCC4 Tracy Lester reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT7A Tracy Lester reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT5A Tracy Lester reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 WNT3 Tracy Lester reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT10B Tracy Lester reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24211389; Phenotypes: Split-hand/foot malformation 6 225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WNT1 Tracy Lester reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI/osteoporosis, Osteogenesis imperfecta, type XV, 615220, {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221, osteogenesis imperfecta; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WISP3 Tracy Lester reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood 208230, Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR60 Tracy Lester reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly 615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR35 Tracy Lester reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia 2 613610, Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR34 Tracy Lester reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, 615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WDR19 Tracy Lester reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: 24504730, 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Cranioectodermal dysplasia 4, 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 UFSP2 Tracy Lester reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28892125, 26428751; Phenotypes: Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nasu-Hakola disease 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TWIST2 Tracy Lester reviewed gene: TWIST2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ablepharon-macrostomia syndrome 200110, Barber-Say syndrome 209885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TWIST1 Tracy Lester reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniosynostosis, type 1 123100, Robinow-Sorauf syndrome 180750, Saethre-Chotzen syndrome 101400, Saethre-Chotzen syndrome with eyelid anomalies 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 TTC21B Tracy Lester reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRTD4, Asphyxiating Thoracic Dystrophy, Nephronophthisis 12, 613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TRPV4 Tracy Lester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachyolmia type 3 113500, Digital arthropathy-brachydactyly, familial 606835, Hereditary motor and sensory neuropathy, type IIc 606071, Metatropic dysplasia 156530, Parastremmatic dwarfism 168400, Scapuloperoneal spinal muscular atrophy 181405, SED, Maroteaux type 184095, Spinal muscular atrophy, distal, congenital nonprogressive 600175, Spondylometaphyseal dysplasia, Kozlowski type 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TRPS1 Tracy Lester reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Trichorhinophalangeal syndrome, type I 190350, Trichorhinophalangeal syndrome, type III 190351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TRIP11 Tracy Lester reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achondrogenesis, type IA 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TREM2 Tracy Lester reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nasu-Hakola disease 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TRAPPC2 Tracy Lester reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 TP63 Tracy Lester reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TNFSF11 Tracy Lester reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TNFRSF11B Tracy Lester reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paget disease of bone 5, juvenile-onset 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TNFRSF11A Tracy Lester reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteolysis, familial expansile 174810, Osteopetrosis, autosomal recessive 7 612301, Paget disease of bone 2, early-onset 602080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TMEM67 Tracy Lester reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM38B Tracy Lester reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type XIV 615066, Osteogenesis imperfecta, type XIV, 615066, osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM231 Tracy Lester reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 20 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM216 Tracy Lester reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 2 608091, Meckel syndrome 2 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMEM165 Tracy Lester reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIk 614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TMCO1 Tracy Lester reviewed gene: TMCO1: Rating: RED; Mode of pathogenicity: ; Publications: 24424126; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 THPO Tracy Lester reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22453305, 19553636; Phenotypes: Thrombocythemia 1 187950 (rare presentation with congenital limb defects); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFBR2 Tracy Lester reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 2 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFBR1 Tracy Lester reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 1 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFB2 Tracy Lester reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 4 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGFB1 Tracy Lester reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Camurati-Engelmann disease 131300 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TGDS Tracy Lester reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Catel-Manzke syndrome 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TERT Tracy Lester reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTN3 Tracy Lester reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: Joubert syndrome 18 614815, Orofaciodigital syndrome IV 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTN2 Tracy Lester reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meckel syndrome 8 613885, Joubert syndrome 24 616654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCTEX1D2 Tracy Lester reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCOF1 Tracy Lester reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher Collins syndrome 1 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 TCIRG1 Tracy Lester reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TCF12 Tracy Lester reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436; Phenotypes: Craniosynostosis 3 615314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Skeletal dysplasia v1.147 TBXAS1 Tracy Lester reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ghosal hematodiaphyseal syndrome 231095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TBX6 Tracy Lester reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocostal dysostosis 5 122600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TBX5 Tracy Lester reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holt-Oram syndrome 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TBX4 Tracy Lester reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ischiocoxopodopatellar syndrome 147891; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TBX3 Tracy Lester reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28145909, 30654152, 28961683; Phenotypes: Ulnar-mammary syndrome 181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 TBX15 Tracy Lester reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: ; Publications: 24039145; Phenotypes: Cousin syndrome 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TBCE Tracy Lester reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome 241410, Kenny-Caffey syndrome, type 1 244460. ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 TALDO1 Tracy Lester reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388407, 26238251; Phenotypes: Transaldolase deficiency 606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SUMF1 Tracy Lester reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple sulfatase deficiency 272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SULF1 Tracy Lester reviewed gene: SULF1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20602915; Phenotypes: Mesomelia-synostoses syndrome 600383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SP7 Tracy Lester reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: ; Publications: 29382611, 2057926; Phenotypes: Osteogenesis imperfecta, type XII 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SOX9 Tracy Lester reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acampomelic campomelic dysplasia 114290, Campomelic dysplasia 114290, Campomelic dysplasia with autosomal sex reversal 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SOST Tracy Lester reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Craniodiaphyseal dysplasia, autosomal dominant 122860, Sclerosteosis 1 269500, Van Buchem disease 239100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SNX10 Tracy Lester reviewed gene: SNX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23280965; Phenotypes: Osteopetrosis, autosomal recessive 8 615085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SNRPB Tracy Lester reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrocostomandibular syndrome 117650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SMOC1 Tracy Lester reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21194678, 21194680; Phenotypes: Ophthalmo-acromelic syndrome, Microphthalmia with limb anomalies 206920, Polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SMC3 Tracy Lester reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 3 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SMC1A Tracy Lester reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 2 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 SMARCAL1 Tracy Lester reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schimke immunoosseous dysplasia 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SMAD4 Tracy Lester reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myhre syndrome 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SMAD3 Tracy Lester reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 3 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SLCO5A1 Tracy Lester reviewed gene: SLCO5A1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20602915; Phenotypes: Mesomelia-synostoses syndrome 600383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SLCO2A1 Tracy Lester reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC39A13 Tracy Lester reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC35D1 Tracy Lester reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Schneckenbecken dysplasia 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC34A3 Tracy Lester reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria 241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC29A3 Tracy Lester reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC26A2 Tracy Lester reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ACG1B,DD,rMED, multiple epiphyseal dysplasia, Multiple Epiphyseal Dysplasia, Recessive, Epiphyseal dysplasia, multiple, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SLC17A5 Tracy Lester reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialic acid storage disorder, infantile 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SKI Tracy Lester reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SHOX Tracy Lester reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Langer mesomelic dysplasia 249700, Leri-Weill dyschondrosteosis 127300, Short stature, idiopathic familial 300582; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SH3PXD2B Tracy Lester reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frank-ter Haar syndrome 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SH3BP2 Tracy Lester reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cherubism 118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SGSH Tracy Lester reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SFRP4 Tracy Lester reviewed gene: SFRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27355534, 28100910, 27117872, 24096177, 26273529, 22965941, 22387305, 20174869, 27117872; Phenotypes: Pyle disease 265900, PYL, Metaphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SF3B4 Tracy Lester reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type 154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SETD2 Tracy Lester reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Luscan-Lumish syndrome 616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SERPINH1 Tracy Lester reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20188343, 25510505; Phenotypes: OI3, {Preterm premature rupture of the membranes, susceptibility to}, 610504, Osteogenesis imperfecta, type X, 613848, Osteogenesis Imperfecta, Recessive, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SERPINF1 Tracy Lester reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI/osteoporosis, Osteogenesis imperfecta, type VI, 613982, Osteogenesis Imperfecta, Recessive, osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SEC24D Tracy Lester reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: Cole-Carpenter syndrome, Osteogenesis Imperfecta, Cole Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SCARF2 Tracy Lester reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Van den Ende-Gupta syndrome 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SBDS Tracy Lester reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Shwachman-Diamond syndrome 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 SALL4 Tracy Lester reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 SALL1 Tracy Lester reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 RUNX2 Tracy Lester reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cleidocranial dysplasia 119600, Cleidocranial dysplasia, forme fruste, dental anomalies only 119600, Cleidocranial dysplasia, forme fruste, with brachydactyly 119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 RPGRIP1L Tracy Lester reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COACH syndrome 216360, Joubert syndrome 7 611560, Meckel syndrome 5 611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ROR2 Tracy Lester reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachydactyly, type B1 113000, Robinow syndrome, autosomal recessive 268310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 RNU4ATAC Tracy Lester reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RMRP Tracy Lester reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anauxetic dysplasia 607095, Cartilage-hair hypoplasia 250250, Metaphyseal dysplasia without hypotrichosis 250460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RIPPLY2 Tracy Lester reviewed gene: RIPPLY2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26238661, 25343988; Phenotypes: Spondylocostal dysostosis 6 - 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RFT1 Tracy Lester reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type In 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RECQL4 Tracy Lester reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Baller-Gerold syndrome 218600, RAPILINO syndrome 266280, Rothmund-Thomson syndrome 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 WRN Tracy Lester reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Werner syndrome -277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RBPJ Tracy Lester reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: 22883147, 28160419; Phenotypes: Adams-Oliver syndrome 3, 614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 RBM8A Tracy Lester reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RASGRP2 Tracy Lester reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18709451, 24958846; Phenotypes: Bleeding disorder, platelet-type, 18 615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RAD21 Tracy Lester reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 4 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 RAB33B Tracy Lester reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Smith-McCort dysplasia 2 615222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 RAB23 Tracy Lester reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Carpenter syndrome 201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 PYCR1 Tracy Lester reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB 612940, Cutis laxa, autosomal recessive, type IIIB 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PUF60 Tracy Lester reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327570, 27804958, 24140112; Phenotypes: Verheij syndrome, 615583, VRJS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PTPN11 Tracy Lester reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEOPARD syndrome 1 151100, Metachondromatosis 156250, Noonan syndrome 1 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PTHLH Tracy Lester reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachydactyly, type E2 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PTH1R Tracy Lester reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrodysplasia, Blomstrand type 215045, Eiken syndrome 600002, Failure of tooth eruption, primary 125350, Metaphyseal chondrodysplasia, Murk Jansen type 156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PTDSS1 Tracy Lester reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lenz-Majewski hyperostotic dwarfism 151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PSPH Tracy Lester reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoserine phosphatase deficiency 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PSAT1 Tracy Lester reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neu-Laxova syndrome 2 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PRMT7 Tracy Lester reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, brachydactyly, intellectual developmental disability, and seizures 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PRKAR1A Tracy Lester reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance 101800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PPIB Tracy Lester reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type IX 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 POR Tracy Lester reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 POP1 Tracy Lester reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21455487, 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, 617396; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 POLR1D Tracy Lester reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher Collins syndrome 2 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 POLR1C Tracy Lester reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher Collins syndrome 3 248390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 POLR1A Tracy Lester reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: Acrofacial dysostosis, Cincinnati type 616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 POC1A Tracy Lester reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26162852, 26336158, 26374189; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PLS3 Tracy Lester reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bone mineral density QTL18, osteoporosis 300910; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 PLOD2 Tracy Lester reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bruck syndrome 2 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PLEKHM1 Tracy Lester reviewed gene: PLEKHM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27291868, 17997709, 17404618; Phenotypes: Osteopetrosis, autosomal recessive 6 - 611497, Osteopetrosis, autosomal dominant 3 - 618107; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PITX1 Tracy Lester reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23587911, 23022097, 30459804; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PIK3R1 Tracy Lester reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT syndrome 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PIK3CA Tracy Lester reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CLOVES 612918; Mode of inheritance: Mosaicism
Skeletal dysplasia v1.147 PIGV Tracy Lester reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PIGT Tracy Lester reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327575, 29868109; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PHGDH Tracy Lester reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PHEX Tracy Lester reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, X-linked dominant 307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 PGM3 Tracy Lester reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: Immunodeficiency 23 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PEX7 Tracy Lester reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337, 28742517, 25800479 ; Phenotypes: Rhizomelic CDP type 1, Rhizomelic chondrodysplasia punctata, type 1, 215100 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PEX5 Tracy Lester reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18712838; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) 214110, Rhizomelic chondrodysplasia punctata, type 5 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PDE4D Tracy Lester reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PDE3A Tracy Lester reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25961942, 9696728; Phenotypes: Hypertension and brachydactyly syndrome, 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 PCYT1A Tracy Lester reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PCNT Tracy Lester reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PAPSS2 Tracy Lester reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 PAM16 Tracy Lester reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 P4HB Tracy Lester reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25683117, 29384951, 30063094; Phenotypes: Cole-Carpenter syndrome 1 112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 P3H1 Tracy Lester reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type VIII 610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 OSTM1 Tracy Lester reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 5 259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ORC6 Tracy Lester reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin syndrome 3 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ORC4 Tracy Lester reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin syndrome 2 613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ORC1 Tracy Lester reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin syndrome 1 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 OFD1 Tracy Lester reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 10 300804, Orofaciodigital syndrome I 311200 XLD, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 OBSL1 Tracy Lester reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-M syndrome 2 612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 OAT Tracy Lester reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NSDHL Tracy Lester reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050, CK syndrome 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 NSD1 Tracy Lester reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sotos syndrome 1 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NPR2 Tracy Lester reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromesomelic dysplasia, Maroteaux type 602875, Epiphyseal chondrodysplasia, Miura type 615923, Short stature with nonspecific skeletal abnormalities 616255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NOTCH2 Tracy Lester reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alagille syndrome 2 610205, Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NOTCH1 Tracy Lester reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 25963545, 27077170, 25132448; Phenotypes: 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), AOS, Limb, scalp and skull defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 NOG Tracy Lester reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachydactyly, type B2 611377, Multiple synostoses syndrome 1 186500, Stapes ankylosis with broad thumb and toes 184460, Symphalangism, proximal, 1A 185800, Tarsal-carpal coalition syndrome 186570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 NLRP3 Tracy Lester reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NKX3-2 Tracy Lester reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia 613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NIPBL Tracy Lester reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 1 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NIN Tracy Lester reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: 22933543, 23665482; Phenotypes: Seckel syndrome 7 614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NFIX Tracy Lester reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Marshall-Smith syndrome 602535, Sotos syndrome 2 614753; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NF1 Tracy Lester reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, familial spinal 162210, Neurofibromatosis, type 1 162200, Neurofibromatosis-Noonan syndrome 601321; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 NEU1 Tracy Lester reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sialidosis, type I 256550, Sialidosis, type II 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NEK1 Tracy Lester reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short rib thoracic dysplasia 6 with or without polydactyly - 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NANS Tracy Lester reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27213289; Phenotypes: Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 NAGLU Tracy Lester reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MYCN Tracy Lester reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 MSX2 Tracy Lester reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniosynostosis, type 2 604757, Parietal foramina 1 168500, Parietal foramina with cleidocranial dysplasia 168550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 MPDU1 Tracy Lester reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type If 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MNX1 Tracy Lester reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Currarino syndrome 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 MMP9 Tracy Lester reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19615667, 28342220, 24781753; Phenotypes: Metaphyseal anadysplasia 2 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MMP2 Tracy Lester reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy 259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MMP13 Tracy Lester reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: ; Publications: 24648384; Phenotypes: Metaphyseal anadysplasia 1 602111, Spondyloepimetaphyseal dysplasia, Missouri type 602111, Metaphyseal dysplasia, Spahr type - 250400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MKS1 Tracy Lester reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MIR17HG Tracy Lester reviewed gene: MIR17HG: Rating: RED; Mode of pathogenicity: ; Publications: 21892160, 25391829, 19344873, 26360630; Phenotypes: Feingold syndrome 2, 614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 MGP Tracy Lester reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Keutel syndrome 245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MESP2 Tracy Lester reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122512, 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive 608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MEOX1 Tracy Lester reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Klippel-Feil syndrome 2 214300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MEGF8 Tracy Lester reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Carpenter syndrome 2 614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MATN3 Tracy Lester reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epiphyseal dysplasia, multiple, 5, 607078, Spondyloepimetaphyseal dysplasia, 608728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 MASP1 Tracy Lester reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3MC syndrome 1 - 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MAP3K7 Tracy Lester reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27426733; Phenotypes: Frontometaphyseal dysplasia 2, 617137; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 MAN2B1 Tracy Lester reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MAFB Tracy Lester reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 2387013, 30305815, 30430035; Phenotypes: Multicentric carpotarsal osteolysis syndrome 166300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 LTBP3 Tracy Lester reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27068007; Phenotypes: Geleophysic dysplasia 3 617809, Dental anomalies and short stature 610216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 LTBP2 Tracy Lester reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22539340; Phenotypes: Weill-Marchesani; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LRP5 Tracy Lester reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperostosis, endosteal 144750, Osteopetrosis, autosomal dominant 1 607634, Osteoporosis-pseudoglioma syndrome 259770, Osteosclerosis 144750, van Buchem disease, type 2 607636, [Bone mineral density variability 1] 601884, {Osteoporosis} 166710; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LRP4 Tracy Lester reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cenani-Lenz syndactyly syndrome 212780, Sclerosteosis 2 614305; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LPIN2 Tracy Lester reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29912021; Phenotypes: Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LONP1 Tracy Lester reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LMX1B Tracy Lester reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome 161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 LMNA Tracy Lester reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mandibuloacral dysplasia 248370, 616516, Heart-hand syndrome, Slovenian type 610140, Hutchinson-Gilford progeria 176670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LMBR1 Tracy Lester reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26749485, 11090342; Phenotypes: Acheiropody 200500, Hypoplastic or aplastic tibia with polydactyly 188740, Laurin-Sandrow syndrome 135750, Polydactyly, preaxial type II 174500, Syndactyly, type IV 186200, Triphalangeal thumb, type I 174500, Triphalangeal thumb-polysyndactyly syndrome 174500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 LIFR Tracy Lester reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LFNG Tracy Lester reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: 16385447, 30196550; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 LEMD3 Tracy Lester reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Buschke-Ollendorff syndrome 166700, Melorheostosis with osteopoikilosis 155950 IC, Osteopoikilosis 166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 LBR Tracy Lester reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly 169400, Pelger-Huet anomaly with mild skeletal anomalies 618019; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 KMT2D Tracy Lester reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 1 - 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 KIF7 Tracy Lester reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acrocallosal syndrome 200990, Joubert syndrome 12 200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 KIF22 Tracy Lester reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 KAT6B Tracy Lester reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Genitopatellar syndrome 606170, SBBYSS syndrome 603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 KAT6A Tracy Lester reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, autosomal dominant 32 - 616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 INPPL1 Tracy Lester reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opsismodysplasia 258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IMPAD1 Tracy Lester reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type 614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IL1RN Tracy Lester reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interleukin 1 receptor antagonist deficiency 612852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IL11RA Tracy Lester reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21741611; Phenotypes: Craniosynostosis and dental anomalies 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 IKBKG Tracy Lester reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301, Incontinentia pigmenti 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 IHH Tracy Lester reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acrocapitofemoral dysplasia 607778, Brachydactyly, type A1 112500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IGF1R Tracy Lester reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT81 Tracy Lester reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: 26275418, 28460050, 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly -617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT80 Tracy Lester reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly 611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT52 Tracy Lester reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: 2688018, 27466190; Phenotypes: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT43 Tracy Lester reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: 21378380, 22791528, 26892345, 24027799, 28400947; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly - 617866, ?Cranioectodermal dysplasia 3 - 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT172 Tracy Lester reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRTD10, Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT140 Tracy Lester reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with of without polydactyly, 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFT122 Tracy Lester reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia 1 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IFITM5 Tracy Lester reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type V 610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 IFIH1 Tracy Lester reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25620204; Phenotypes: Singleton-Merten syndrome 1 (182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 IDUA Tracy Lester reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Ih/s 607015, Mucopolysaccharidosis Is 607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 IDS Tracy Lester reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis II 309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 IDH2 Tracy Lester reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22057236, 22057234, 24049096; Phenotypes: Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 IDH1 Tracy Lester reviewed gene: IDH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22025298, 22057236, 22057234, 24049096; Phenotypes: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875, Maffucci syndrome 614569, Ollier disease/ Dyschondroplasia 166000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ICK Tracy Lester reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: 27069622, 19185282; Phenotypes: Endocrine-cerebroosteodysplasia 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 HSPG2 Tracy Lester reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyssegmental dysplasia, Silverman-Handmaker type 224410, Schwartz-Jampel syndrome, type 1 255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 HNRNPK Tracy Lester reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 26173930, 26954065, 26638989; Phenotypes: Au-Kline syndrome:616580, Orphanet:453499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 HPGD Tracy Lester reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioosteoarthropathy 259100, Digital clubbing, isolated congenital 119900, Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 HOXD13 Tracy Lester reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9758628, 12649808, 17236141; Phenotypes: Brachydactyly-syndactyly syndrome 610713, Brachydactyly, type D 113200, Brachydactyly, type E 113300, Syndactyly, type V 186300, Synpolydactyly 1 186000 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 HOXD11 Tracy Lester reviewed gene: HOXD11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: Fleischman 2013 Blood 122:4837 http://www.bloodjournal.org/content/122/21/4837 (not in PubMed); Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 HOXA13 Tracy Lester reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Guttmacher syndrome 176305, Hand-foot-uterus syndrome 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 HOXA11 Tracy Lester reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 HGSNAT Tracy Lester reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 HES7 Tracy Lester reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive 613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 HDAC8 Tracy Lester reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 5 300882, Wilson-Turner syndrome 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 HDAC4 Tracy Lester reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 20691407, 15521982, 19365831, 25402011; Phenotypes: Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 GZF1 Tracy Lester reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28475863; Phenotypes: Larsen syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GUSB Tracy Lester reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis VII 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GSC Tracy Lester reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GPX4 Tracy Lester reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type 250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GPC6 Tracy Lester reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Omodysplasia 1 258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GORAB Tracy Lester reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Geroderma osteodysplasticum 231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GNS Tracy Lester reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID 252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GNPTG Tracy Lester reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis III gamma 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GNPTAB Tracy Lester reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis II alpha/beta 252500, Mucolipidosis III alpha/beta 252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GNPAT Tracy Lester reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RCDP2, Rhizomelic Chondrodysplasia Punctata, Chondrodysplasia punctata, rhizomelic, type 2, 222765, Rhizomelic chondrodysplasia punctata type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GNAS Tracy Lester reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: McCune-Albright syndrome, somatic, mosaic 174800, Osseous heteroplasia, progressive 166350, Pseudohypoparathyroidism Ia 103580, Pseudohypoparathyroidism Ib 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Skeletal dysplasia v1.147 GLI3 Tracy Lester reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Greig cephalopolysyndactyly syndrome 175700, Pallister-Hall syndrome 146510, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, {Hypothalamic hamartomas, somatic} 241800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 GLB1 Tracy Lester reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM1-gangliosidosis, type I 230500, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GJA1 Tracy Lester reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GHR Tracy Lester reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Laron dwarfism, 262500, Growth hormone insensitivity, increased responsiveness to growth hormone 604271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GDF6 Tracy Lester reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18425797; Phenotypes: Klippel-Feil syndrome 1, autosomal dominant 118100, Multiple synostoses syndrome type 4 - 617898.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 GDF5 Tracy Lester reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromesomelic dysplasia, Hunter-Thompson type 201250, Brachydactyly, type A1, C 615072, Brachydactyly, type A2 112600, Brachydactyly, type C 113100, Chondrodysplasia, Grebe type 200700, Du Pan syndrome 228900, Multiple synostoses syndrome 2 610017, Symphalangism, proximal, 1B 615298, {Osteoarthritis-5} 612400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 GDF3 Tracy Lester reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19864492; Phenotypes: Klippel-Feil anomaly with laryngeal malformation - 613702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 GALNT3 Tracy Lester reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial I 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 GALNS Tracy Lester reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis IVA 253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FZD2 Tracy Lester reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25759469, 29230162, 29383830, 29383834, 30455931; Phenotypes: Autosomal dominant omodysplasia type 2 164745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FUCA1 Tracy Lester reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fucosidosis 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FN1 Tracy Lester reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 29100092; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type 184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FLNB Tracy Lester reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Atelosteogenesis, type I 108720, Atelosteogenesis, type III 108721, Boomerang dysplasia 112310, Larsen syndrome 150250, Spondylocarpotarsal synostosis syndrome 272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FLNA Tracy Lester reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Melnick Needles syndrome 309350, Otopalatodigital syndrome, type I -311300, Otopalatodigital syndrome, type II -304120, Frontometaphyseal dysplasia 305620, Terminal osseous dysplasia 300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Skeletal dysplasia v1.147 FKBP10 Tracy Lester reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brucks syndrome 1 - 259450, Osteogenesis imperfecta, type XI, 610968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FIG4 Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Yunis-Varon syndrome 216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FGFR3 Tracy Lester reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Achondroplasia 100800, CATSHL syndrome 610474, Crouzon syndrome with acanthosis nigricans 612247, Hypochondroplasia 146000, LADD syndrome 149730, Muenke syndrome 602849, SADDAN 616482, Thanatophoric dysplasia, type I 187600, Thanatophoric dysplasia, type II 187601; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 FGFR2 Tracy Lester reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Bent bone dysplasia syndrome 614592, Craniofacial-skeletal-dermatologic dysplasia 101600, Craniosynostosis, nonspecific Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Pfeiffer syndrome 101600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 FGFR1 Tracy Lester reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Hartsfield syndrome 615465, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 FGF23 Tracy Lester reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, autosomal dominant 193100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FGF16 Tracy Lester reviewed gene: FGF16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metacarpal 4-5 fusion 309630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 FGF10 Tracy Lester reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LADD syndrome 149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 FGF9 Tracy Lester reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 19589401; Phenotypes: ?Multiple synostoses syndrome type 3 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FERMT3 Tracy Lester reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18709451; Phenotypes: Leukocyte adhesion deficiency, type III 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FBN2 Tracy Lester reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Contractural arachnodactyly, congenital 121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FBN1 Tracy Lester reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromicric dysplasia 102370, Geleophysic dysplasia 2 614185, Marfan syndrome 154700, Stiff skin syndrome 184900, Weill-Marchesani syndrome 2, dominant 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 FBLN1 Tracy Lester reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24084572; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FBLIM1 Tracy Lester reviewed gene: FBLIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29912021; Phenotypes: Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FAM58A Tracy Lester reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: STAR syndrome 300707; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 FAM20C Tracy Lester reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raine syndrome 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 FAM111A Tracy Lester reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Gracile bone dysplasia 602361, Kenny-Caffey syndrome, type 2 127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EZH2 Tracy Lester reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weaver syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EXTL3 Tracy Lester reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28148688, 28132690; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 EXT2 Tracy Lester reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Exostoses, multiple, type 2 133701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EXT1 Tracy Lester reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Exostoses, multiple, type 13370, trichorhinophalangeal syndrome type 2 -150230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EVC2 Tracy Lester reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ellis-van Creveld syndrome 225500, Weyers acrofacial dysostosis 193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 EVC Tracy Lester reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ECV1, Ellis-van Creveld syndrome, 225500, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ESCO2 Tracy Lester reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Roberts syndrome 268300, SC phocomelia syndrome 269000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ERF Tracy Lester reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23354439, 26097063; Phenotypes: Craniosynostosis 4 600775, Chitayat syndrome - 617180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 EP300 Tracy Lester reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EOGT Tracy Lester reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adams Oliver syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ENPP1 Tracy Lester reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cole disease 615522, Hypophosphatemic rickets, autosomal recessive, 2 613312; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 EIF2AK3 Tracy Lester reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolcott-Rallison syndrome 226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 EFTUD2 Tracy Lester reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19334086, 16760738, 22305528; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EFNB1 Tracy Lester reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniofrontonasal dysplasia 304110; Mode of inheritance: X-LINKED: hemizygous mutation in males is generally not pathogenic, monoallelic mutations in females may cause disease, as do mosaic mutations in males ; Current diagnostic: yes
Skeletal dysplasia v1.147 EED Tracy Lester reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: ; Publications: 25787343, 27193220, 27868325, 28229514; Phenotypes: Cohen-Gibson syndrome 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 EBP Tracy Lester reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CDPXLD, Chondrodysplasia punctata, X-linked dominant, 302960, MEND syndrome-300960 XLR.; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 DYNC2LI1 Tracy Lester reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY, SRTD15 #617088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DYNC2H1 Tracy Lester reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21211617; Phenotypes: Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DYM Tracy Lester reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease 223800, Smith-McCort dysplasia 607326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DVL3 Tracy Lester reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3, 616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 DVL1 Tracy Lester reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v1.147 DPM1 Tracy Lester reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10642602, 15669674, 23856421; Phenotypes: Congenital disorder of glycosylation, type Ie 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DOCK6 Tracy Lester reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adams-Oliver syndrome 2 614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DNMT3A Tracy Lester reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tatton-Brown-Rahman syndrome 615879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 DMP1 Tracy Lester reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, AR, 241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DLX6 Tracy Lester reviewed gene: DLX6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28611547; Phenotypes: Split-hand/foot malformation 1 183600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 DLX5 Tracy Lester reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27085093; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DLX3 Tracy Lester reviewed gene: DLX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26762616, 26104267; Phenotypes: Amelogenesis imperfecta, type IV 104510, Trichodontoosseous syndrome 190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 DLL4 Tracy Lester reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: Adams-Oliver syndrome 6, 616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 DLL3 Tracy Lester reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DIS3L2 Tracy Lester reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22306653; Phenotypes: Perlman syndrome 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DHODH Tracy Lester reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Miller syndrome (postaxial acrofacial dysostosis) 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DHCR24 Tracy Lester reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Desmosterolosis 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DDR2 Tracy Lester reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 DCC Tracy Lester reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CYP27B1 Tracy Lester reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I 264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CUL7 Tracy Lester reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-M syndrome 1 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CTSK Tracy Lester reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28328823; Phenotypes: Pycnodysostosis 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CTSC Tracy Lester reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 15727652, 26205983, 24966751; Phenotypes: Haim-Munk syndrome 245010, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CTSA Tracy Lester reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CSPP1 Tracy Lester reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360803, 24360808; Phenotypes: Joubert syndrome 21 615636, ORPHA:475 Joubert syndrome, ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy, ORPHA:564 Meckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CRTAP Tracy Lester reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII 610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CREBBP Tracy Lester reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 CREB3L1 Tracy Lester reviewed gene: CREB3L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25007323, 28817112, 29936144.; Phenotypes: Osteogenesis imperfecta, type XVI 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COMP Tracy Lester reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epiphyseal dysplasia, multiple, 1 132400, Pseudoachondroplasia 177170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 COLEC11 Tracy Lester reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 28301481, 8933348, 2569826; Phenotypes: 3MC syndrome 2 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COLEC10 Tracy Lester reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28301481; Phenotypes: 3MC syndrome 3 -248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COL9A3 Tracy Lester reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MED, multiple epiphyseal dysplasia 3, with or without myopathy - 600969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 COL9A2 Tracy Lester reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type V 614284, Epiphyseal dysplasia, multiple, 2 600204, {Intervertebral disc disease, susceptibility to}, 603932, Stickler syndrome, type V, 614284; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COL9A1 Tracy Lester reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epiphyseal dysplasia, multiple, 6 614135, Stickler syndrome, type IV 614134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 COL2A1 Tracy Lester reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achondrogenesis, type II or hypochondrogenesis 200610, Avascular necrosis of the femoral head 608805, Czech dysplasia 609162, Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Osteoarthritis with mild chondrodysplasia 604864, Otospondylomegaepiphyseal dysplasia 215150, Platyspondylic skeletal dysplasia, Torrance type 151210, SED congenita 183900, SMED Strudwick type 184250, Spondyloepiphyseal dysplasia, Stanescu type 616583, Spondyloperipheral dysplasia 271700, Stickler sydrome, type I, nonsyndromic ocular 609508, Stickler syndrome, type I 108300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COL1A2 Tracy Lester reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome, cardiac valvular form 225320, Ehlers-Danlos syndrome, type VIIB 130060, Osteogenesis imperfecta, type II 166210, Osteogenesis imperfecta, type III 259420, Osteogenesis imperfecta, type IV 166220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320)
Skeletal dysplasia v1.147 COL1A1 Tracy Lester reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Caffey disease 114000, Ehlers-Danlos syndrome, classic 130000, Ehlers-Danlos syndrome, type VIIA 130060, Osteogenesis imperfecta, type I 166200, Osteogenesis imperfecta, type II 166210, Osteogenesis imperfecta, type III 259420, Osteogenesis imperfecta, type IV 166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 COL11A2 Tracy Lester reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fibrochondrogenesis 2 614524?, Otospondylomegaepiphyseal dysplasia 215150, Stickler syndrome, type III 184840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COL11A1 Tracy Lester reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fibrochondrogenesis 1 228520, Marshall syndrome 154780, Stickler syndrome, type II 604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 COL10A1 Tracy Lester reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metaphyseal chondrodysplasia, Schmid type 156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 COG1 Tracy Lester reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16537452, 19008299; Phenotypes: Congenital disorder of glycosylation, type IIg 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CLCN7 Tracy Lester reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal dominant 2 166600, Osteopetrosis, autosomal recessive 4 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CLCN5 Tracy Lester reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dent disease 300009, Hypophosphatemic rickets 300554, Nephrolithiasis, type I 310468, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 CKAP2L Tracy Lester reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Syndactyly with microcephaly and MR (Filippi syndrome) 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CHSY1 Tracy Lester reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Temtamy preaxial brachydactyly syndrome 605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CHST3 Tracy Lester reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CHST14 Tracy Lester reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 C21orf2 Tracy Lester reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26974433; Phenotypes: Spondylometaphyseal dysplasia, axial 602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CEP290 Tracy Lester reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CEP120 Tracy Lester reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: 27208211, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly 616300, Joubert syndrome 213300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CDT1 Tracy Lester reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin syndrome 4 613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CDKN1C Tracy Lester reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IMAGE syndrome 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted
Skeletal dysplasia v1.147 CDH3 Tracy Lester reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15805154, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CD96 Tracy Lester reviewed gene: CD96: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: C-syndrome 217750 (opitz trigonocephaly); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 CDC45 Tracy Lester reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374770; Phenotypes: Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770), Craniosynostosis (Wilkie) (from Ana Beleza); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CCDC8 Tracy Lester reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: 3-M syndrome 3, 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CC2D2A Tracy Lester reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 24706459, 23351400; Phenotypes: Meckel syndrome 6 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CASR Tracy Lester reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperparathyroidism, neonatal 239200, Hypocalcemia, autosomal dominant 601198, Hypocalcemia, autosomal dominant, with Bartter syndrome 601198, Hypocalciuric hypercalcemia, type I 145980; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CANT1 Tracy Lester reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Desbuquois dysplasia 1 251450, multiple epiphyseal dysplasia type 7, 617719.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 CA2 Tracy Lester reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 C2CD3 Tracy Lester reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Orofaciodigital syndrome XIV 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 BMPR1B Tracy Lester reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromesomelic dysplasia, Demirhan type 609441, Brachydactyly, type A1, D 616849, Brachydactyly, type A2 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 BMPER Tracy Lester reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diaphanospondylodysostosis 608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 BMP2 Tracy Lester reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19327734, 21357617, 29198724; Phenotypes: Brachydactyly, type A2 112600, {HFE hemochromatosis, modifier of} 235200, short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 BMP1 Tracy Lester reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteogenesis imperfecta, type XIII, 614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 BHLHA9 Tracy Lester reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 B9D1 Tracy Lester reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: ; Publications: 24886560, 21493627; Phenotypes: Meckel syndrome 9 614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 B4GALT7 Tracy Lester reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome with short stature and limb anomalies 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 B3GAT3 Tracy Lester reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Larsen alike phenotype (skd incl), Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 B3GALT6 Tracy Lester reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ehlers-Danlos syndrome, progeroid type, 2 615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ATP7A Tracy Lester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Menkes disease 309400, Occipital horn syndrome 304150, Spinal muscular atrophy, distal, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 ATP6V0A2 Tracy Lester reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA 219200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ASXL2 Tracy Lester reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693232; Phenotypes: Shashi-Pena syndrome 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 ASXL1 Tracy Lester reviewed gene: ASXL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bohring-Opitz syndrome 605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ARSE Tracy Lester reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CDPXL, Chondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive chondrodysplasia punctata, CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.147 ARSB Tracy Lester reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ARID1B Tracy Lester reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Siris syndrome type 1 - 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ARHGAP31 Tracy Lester reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: 21565291, 29924900; Phenotypes: Adams-Oliver syndrome 1 100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ANTXR2 Tracy Lester reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyaline fibromatosis syndrome 228600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ANO5 Tracy Lester reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gnatodiaphyseal dysplasia, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Disproportionate Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ANKRD11 Tracy Lester reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KBG syndrome 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ANKH Tracy Lester reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrocalcinosis 2 118600, Craniometaphyseal dysplasia 123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 AMER1 Tracy Lester reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopathia striata with cranial sclerosis 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Skeletal dysplasia v1.147 ALX4 Tracy Lester reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia 2 613451; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 ALX3 Tracy Lester reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia 1 136760 (frontorhiny); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 ALX1 Tracy Lester reviewed gene: ALX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia type 3 613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v1.147 ALPL Tracy Lester reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hypophosphatasia, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ALG9 Tracy Lester reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: ; Publications: 25966638; Phenotypes: Congenital disorder of glycosylation, type Il 608776, Gillessen-Kaesbach-Nishimura syndrome 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ALG3 Tracy Lester reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Id 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ALG12 Tracy Lester reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ig 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 AKT1 Tracy Lester reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome 6 615109, Proteus syndrome, somatic 176920; Mode of inheritance: Unknown
Skeletal dysplasia v1.147 AGPS Tracy Lester reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 AGA Tracy Lester reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ADAMTSL2 Tracy Lester reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Geleophysic dysplasia 1 231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ADAMTS17 Tracy Lester reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weill-Marchesani syndrome type 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ADAMTS10 Tracy Lester reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weill-Marchesani syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ACVR1 Tracy Lester reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fibrodysplasia ossificans progressiva 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.147 ACP5 Tracy Lester reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ACAN Tracy Lester reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24762113; Phenotypes: Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800, Spondyloepimetaphyseal dysplasia, aggrecan type 61283, Spondyloepiphyseal dysplasia, Kimberley type 608361; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 ABL1 Tracy Lester reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28288113; Phenotypes: Congenital heart defects and skeletal malformations syndrome, 617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.147 ABCC9 Tracy Lester reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v1.146 ZMPSTE24 Eleanor Williams reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ZIC1 Eleanor Williams reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 YY1 Eleanor Williams reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 XYLT2 Eleanor Williams reviewed gene: XYLT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 XYLT1 Eleanor Williams reviewed gene: XYLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 XRCC4 Eleanor Williams reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WNT7A Eleanor Williams reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WNT5A Eleanor Williams reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WNT3 Eleanor Williams reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WNT10B Eleanor Williams reviewed gene: WNT10B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WNT1 Eleanor Williams reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WISP3 Eleanor Williams reviewed gene: WISP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WDR60 Eleanor Williams reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WDR35 Eleanor Williams reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WDR34 Eleanor Williams reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 UFSP2 Eleanor Williams reviewed gene: UFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TYROBP Eleanor Williams reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TWIST2 Eleanor Williams reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TWIST1 Eleanor Williams reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TRPV4 Eleanor Williams reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TRPS1 Eleanor Williams reviewed gene: TRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TRIP11 Eleanor Williams reviewed gene: TRIP11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TREM2 Eleanor Williams reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TRAPPC2 Eleanor Williams reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TP63 Eleanor Williams reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TNFSF11 Eleanor Williams reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TNFRSF11B Eleanor Williams reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TNFRSF11A Eleanor Williams reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMEM38B Eleanor Williams reviewed gene: TMEM38B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMEM231 Eleanor Williams reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMEM216 Eleanor Williams reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMEM165 Eleanor Williams reviewed gene: TMEM165: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TMCO1 Eleanor Williams reviewed gene: TMCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 THPO Eleanor Williams reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TGFBR2 Eleanor Williams reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TGFBR1 Eleanor Williams reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TGFB2 Eleanor Williams reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TGFB1 Eleanor Williams reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TGDS Eleanor Williams reviewed gene: TGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TERT Eleanor Williams reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCTN3 Eleanor Williams reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCTN2 Eleanor Williams reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCTEX1D2 Eleanor Williams reviewed gene: TCTEX1D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCOF1 Eleanor Williams reviewed gene: TCOF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCIRG1 Eleanor Williams reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TCF12 Eleanor Williams reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBXAS1 Eleanor Williams reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBX6 Eleanor Williams reviewed gene: TBX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBX5 Eleanor Williams reviewed gene: TBX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBX4 Eleanor Williams reviewed gene: TBX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBX3 Eleanor Williams reviewed gene: TBX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBX15 Eleanor Williams reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TBCE Eleanor Williams reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 TALDO1 Eleanor Williams reviewed gene: TALDO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SUMF1 Eleanor Williams reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SULF1 Eleanor Williams reviewed gene: SULF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SP7 Eleanor Williams reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SOX9 Eleanor Williams reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SOST Eleanor Williams reviewed gene: SOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SNX10 Eleanor Williams reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SNRPB Eleanor Williams reviewed gene: SNRPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SMOC1 Eleanor Williams edited their review of gene: SMOC1: Added comment: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMOC1; Initial rating suggestion: green; Changed rating: AMBER
Skeletal dysplasia v1.146 SMC3 Eleanor Williams reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SMC1A Eleanor Williams reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SMAD4 Eleanor Williams reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SMAD3 Eleanor Williams reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLCO5A1 Eleanor Williams reviewed gene: SLCO5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLCO2A1 Eleanor Williams reviewed gene: SLCO2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC39A13 Eleanor Williams reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC35D1 Eleanor Williams reviewed gene: SLC35D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC34A3 Eleanor Williams reviewed gene: SLC34A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC29A3 Eleanor Williams reviewed gene: SLC29A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC26A2 Eleanor Williams reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SLC17A5 Eleanor Williams reviewed gene: SLC17A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SKI Eleanor Williams reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SHOX Eleanor Williams reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SH3PXD2B Eleanor Williams reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SH3BP2 Eleanor Williams reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SGSH Eleanor Williams reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SFRP4 Eleanor Williams reviewed gene: SFRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SF3B4 Eleanor Williams reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SETD2 Eleanor Williams reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SERPINH1 Eleanor Williams reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SERPINF1 Eleanor Williams reviewed gene: SERPINF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SEC24D Eleanor Williams reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SCARF2 Eleanor Williams reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SBDS Eleanor Williams reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SALL4 Eleanor Williams reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 SALL1 Eleanor Williams reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RUNX2 Eleanor Williams reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RPGRIP1L Eleanor Williams reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ROR2 Eleanor Williams reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RNU4ATAC Eleanor Williams reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RMRP Eleanor Williams reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RIPPLY2 Eleanor Williams reviewed gene: RIPPLY2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RFT1 Eleanor Williams reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RECQL4 Eleanor Williams reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 WRN Eleanor Williams reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RBPJ Eleanor Williams reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RBM8A Eleanor Williams reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RASGRP2 Eleanor Williams reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RAD21 Eleanor Williams reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RAB33B Eleanor Williams reviewed gene: RAB33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 RAB23 Eleanor Williams reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PYCR1 Eleanor Williams reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PUF60 Eleanor Williams reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PTPN11 Eleanor Williams reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PTHLH Eleanor Williams reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PTH1R Eleanor Williams reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PTDSS1 Eleanor Williams reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PSPH Eleanor Williams reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PSAT1 Eleanor Williams reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PRMT7 Eleanor Williams reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PRKAR1A Eleanor Williams reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PPIB Eleanor Williams reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POR Eleanor Williams reviewed gene: POR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POP1 Eleanor Williams reviewed gene: POP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POLR1D Eleanor Williams reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POLR1C Eleanor Williams reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POLR1A Eleanor Williams reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 POC1A Eleanor Williams reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PLS3 Eleanor Williams reviewed gene: PLS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PLOD2 Eleanor Williams reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PLEKHM1 Eleanor Williams reviewed gene: PLEKHM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PITX1 Eleanor Williams reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PIK3R1 Eleanor Williams reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PIK3CA Eleanor Williams reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PIGV Eleanor Williams reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PIGT Eleanor Williams reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PHGDH Eleanor Williams reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PHEX Eleanor Williams reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PGM3 Eleanor Williams reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PEX7 Eleanor Williams reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PEX5 Eleanor Williams reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PDE4D Eleanor Williams reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PDE3A Eleanor Williams reviewed gene: PDE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PCYT1A Eleanor Williams reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PCNT Eleanor Williams reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PAPSS2 Eleanor Williams reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 PAM16 Eleanor Williams reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 P4HB Eleanor Williams reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 P3H1 Eleanor Williams reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 OSTM1 Eleanor Williams reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ORC6 Eleanor Williams reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ORC4 Eleanor Williams reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ORC1 Eleanor Williams reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 OFD1 Eleanor Williams reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 OBSL1 Eleanor Williams reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 OAT Eleanor Williams reviewed gene: OAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NSDHL Eleanor Williams reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NSD1 Eleanor Williams reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NPR2 Eleanor Williams reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NOTCH2 Eleanor Williams reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NOTCH1 Eleanor Williams edited their review of gene: NOTCH1: Added comment: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH1; Initial rating suggestion: green; Changed rating: AMBER
Skeletal dysplasia v1.146 NOG Eleanor Williams reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NLRP3 Eleanor Williams reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NKX3-2 Eleanor Williams reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NIPBL Eleanor Williams reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NIN Eleanor Williams reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NFIX Eleanor Williams reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NF1 Eleanor Williams reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NEU1 Eleanor Williams reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NEK1 Eleanor Williams reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NANS Eleanor Williams reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 NAGLU Eleanor Williams reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MYCN Eleanor Williams reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MSX2 Eleanor Williams reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MPDU1 Eleanor Williams reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MNX1 Eleanor Williams reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MMP9 Eleanor Williams reviewed gene: MMP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MMP2 Eleanor Williams reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MMP13 Eleanor Williams reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MKS1 Eleanor Williams reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MIR17HG Eleanor Williams reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MGP Eleanor Williams reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MESP2 Eleanor Williams reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MEOX1 Eleanor Williams reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MEGF8 Eleanor Williams reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MATN3 Eleanor Williams reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MASP1 Eleanor Williams reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MAP3K7 Eleanor Williams reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MAN2B1 Eleanor Williams reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 MAFB Eleanor Williams reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LTBP3 Eleanor Williams reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LTBP2 Eleanor Williams reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LRP5 Eleanor Williams reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LRP4 Eleanor Williams reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LPIN2 Eleanor Williams reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LONP1 Eleanor Williams reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LMX1B Eleanor Williams reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LMNA Eleanor Williams reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LMBR1 Eleanor Williams reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LIFR Eleanor Williams reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LFNG Eleanor Williams reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LEMD3 Eleanor Williams reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 LBR Eleanor Williams reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 KMT2D Eleanor Williams reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 KIF7 Eleanor Williams reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 KIF22 Eleanor Williams reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 KAT6B Eleanor Williams reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 KAT6A Eleanor Williams reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 INPPL1 Eleanor Williams reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IMPAD1 Eleanor Williams reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IL1RN Eleanor Williams reviewed gene: IL1RN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IL11RA Eleanor Williams reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IKBKG Eleanor Williams reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IHH Eleanor Williams reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IGF1R Eleanor Williams reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT81 Eleanor Williams reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT80 Eleanor Williams reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT52 Eleanor Williams reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT43 Eleanor Williams reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT172 Eleanor Williams reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT140 Eleanor Williams reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFT122 Eleanor Williams reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFITM5 Eleanor Williams reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IFIH1 Eleanor Williams reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IDUA Eleanor Williams reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IDS Eleanor Williams reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IDH2 Eleanor Williams reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 IDH1 Eleanor Williams reviewed gene: IDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ICK Eleanor Williams reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HSPG2 Eleanor Williams reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HNRNPK Eleanor Williams reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HPGD Eleanor Williams reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HOXD13 Eleanor Williams reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HOXD11 Eleanor Williams reviewed gene: HOXD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HOXA13 Eleanor Williams reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HOXA11 Eleanor Williams reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HGSNAT Eleanor Williams reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HES7 Eleanor Williams reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HDAC8 Eleanor Williams reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 HDAC4 Eleanor Williams reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GZF1 Eleanor Williams reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GUSB Eleanor Williams reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GSC Eleanor Williams reviewed gene: GSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GPX4 Eleanor Williams reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GPC6 Eleanor Williams reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GORAB Eleanor Williams reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GNS Eleanor Williams reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GNPTG Eleanor Williams reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GNPTAB Eleanor Williams reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GNPAT Eleanor Williams reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GNAS Eleanor Williams reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GLI3 Eleanor Williams reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GLB1 Eleanor Williams reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GJA1 Eleanor Williams reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GHR Eleanor Williams reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GDF6 Eleanor Williams reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GDF5 Eleanor Williams reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GDF3 Eleanor Williams reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GALNT3 Eleanor Williams reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 GALNS Eleanor Williams reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FZD2 Eleanor Williams reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FUCA1 Eleanor Williams reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FN1 Eleanor Williams reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FLNB Eleanor Williams reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FLNA Eleanor Williams reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FKBP10 Eleanor Williams reviewed gene: FKBP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FIG4 Eleanor Williams reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGFR3 Eleanor Williams reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGFR2 Eleanor Williams reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGFR1 Eleanor Williams reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGF23 Eleanor Williams reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGF16 Eleanor Williams reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGF10 Eleanor Williams reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FGF9 Eleanor Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FERMT3 Eleanor Williams reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FBN2 Eleanor Williams reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FBN1 Eleanor Williams reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FBLN1 Eleanor Williams reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FBLIM1 Eleanor Williams reviewed gene: FBLIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FAM58A Eleanor Williams reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FAM20C Eleanor Williams reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 FAM111A Eleanor Williams reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EZH2 Eleanor Williams reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EXTL3 Eleanor Williams reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EXT2 Eleanor Williams reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EXT1 Eleanor Williams reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EVC2 Eleanor Williams reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EVC Eleanor Williams reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ESCO2 Eleanor Williams reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ERF Eleanor Williams reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EP300 Eleanor Williams reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EOGT Eleanor Williams reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ENPP1 Eleanor Williams reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EIF2AK3 Eleanor Williams reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EFTUD2 Eleanor Williams reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EFNB1 Eleanor Williams reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EED Eleanor Williams reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EBP Eleanor Williams reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DYNC2LI1 Eleanor Williams reviewed gene: DYNC2LI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DYNC2H1 Eleanor Williams reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DYM Eleanor Williams reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DVL3 Eleanor Williams reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DVL1 Eleanor Williams reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DPM1 Eleanor Williams reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DOCK6 Eleanor Williams reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DNMT3A Eleanor Williams reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DMP1 Eleanor Williams reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DLX6 Eleanor Williams reviewed gene: DLX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DLX5 Eleanor Williams reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DLX3 Eleanor Williams reviewed gene: DLX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DLL4 Eleanor Williams reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DLL3 Eleanor Williams reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DIS3L2 Eleanor Williams reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DHODH Eleanor Williams reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DHCR24 Eleanor Williams reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DDR2 Eleanor Williams reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 DCC Eleanor Williams reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CYP27B1 Eleanor Williams reviewed gene: CYP27B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CUL7 Eleanor Williams reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CTSK Eleanor Williams reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CTSC Eleanor Williams reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CTSA Eleanor Williams reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CSPP1 Eleanor Williams reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CRTAP Eleanor Williams reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CREBBP Eleanor Williams reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CREB3L1 Eleanor Williams reviewed gene: CREB3L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COMP Eleanor Williams reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COLEC11 Eleanor Williams reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COLEC10 Eleanor Williams reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL2A1 Eleanor Williams reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL1A2 Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL1A1 Eleanor Williams reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL11A2 Eleanor Williams reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COL10A1 Eleanor Williams reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 COG1 Eleanor Williams reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CLCN7 Eleanor Williams reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CKAP2L Eleanor Williams reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CHSY1 Eleanor Williams reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CHST3 Eleanor Williams reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CHST14 Eleanor Williams reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 C21orf2 Eleanor Williams reviewed gene: C21orf2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CEP290 Eleanor Williams reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CEP120 Eleanor Williams reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CDT1 Eleanor Williams reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CDKN1C Eleanor Williams reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CDH3 Eleanor Williams reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CD96 Eleanor Williams reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CDC45 Eleanor Williams reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CCDC8 Eleanor Williams reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CC2D2A Eleanor Williams reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CASR Eleanor Williams reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CANT1 Eleanor Williams reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 CA2 Eleanor Williams reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 C2CD3 Eleanor Williams reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 BMPR1B Eleanor Williams reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 BMPER Eleanor Williams reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 BMP2 Eleanor Williams edited their review of gene: BMP2: Added comment: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BMP2; Initial rating suggestion: green; Changed rating: AMBER
Skeletal dysplasia v1.146 BMP1 Eleanor Williams reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 BHLHA9 Eleanor Williams reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 B9D1 Eleanor Williams reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 B4GALT7 Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 B3GAT3 Eleanor Williams reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 B3GALT6 Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ATP7A Eleanor Williams reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ATP6V0A2 Eleanor Williams reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ASXL2 Eleanor Williams reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ASXL1 Eleanor Williams reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ARSE Eleanor Williams reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ARSB Eleanor Williams reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ARID1B Eleanor Williams reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ARHGAP31 Eleanor Williams edited their review of gene: ARHGAP31: Added comment: This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ARHGAP31; Initial rating suggestion: green; Changed rating: AMBER
Skeletal dysplasia v1.146 ANTXR2 Eleanor Williams reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ANO5 Eleanor Williams reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ANKRD11 Eleanor Williams reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ANKH Eleanor Williams reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 AMER1 Eleanor Williams reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALX4 Eleanor Williams reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALX3 Eleanor Williams reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALX1 Eleanor Williams reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALPL Eleanor Williams reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALG9 Eleanor Williams reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALG3 Eleanor Williams reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ALG12 Eleanor Williams reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 AKT1 Eleanor Williams reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 AGPS Eleanor Williams reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 AGA Eleanor Williams reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ADAMTSL2 Eleanor Williams reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ADAMTS17 Eleanor Williams reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ADAMTS10 Eleanor Williams reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ACVR1 Eleanor Williams reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ACP5 Eleanor Williams reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ACAN Eleanor Williams reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ABL1 Eleanor Williams reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 ABCC9 Eleanor Williams reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Inherited bleeding disorders v1.153 ACTB Louise Daugherty Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 with macrothrombocytopenia to Baraitser-Winter syndrome 1 with macrothrombocytopenia; Platelet disorder
Skeletal dysplasia v1.145 ZMPSTE24 Eleanor Williams Source NHS GMS was added to ZMPSTE24.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ZIC1 Eleanor Williams Source NHS GMS was added to ZIC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 YY1 Eleanor Williams Source NHS GMS was added to YY1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 XYLT2 Eleanor Williams Source NHS GMS was added to XYLT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 XYLT1 Eleanor Williams Source NHS GMS was added to XYLT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 XRCC4 Eleanor Williams Source NHS GMS was added to XRCC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT7A Eleanor Williams Source NHS GMS was added to WNT7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT5A Eleanor Williams Source NHS GMS was added to WNT5A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT3 Eleanor Williams Source NHS GMS was added to WNT3.
Skeletal dysplasia v1.145 WNT10B Eleanor Williams Source NHS GMS was added to WNT10B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WNT1 Eleanor Williams Source NHS GMS was added to WNT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WISP3 Eleanor Williams Source NHS GMS was added to WISP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR60 Eleanor Williams Source NHS GMS was added to WDR60.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR35 Eleanor Williams Source NHS GMS was added to WDR35.
Skeletal dysplasia v1.145 WDR34 Eleanor Williams Source NHS GMS was added to WDR34.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WDR19 Eleanor Williams Source NHS GMS was added to WDR19.
Skeletal dysplasia v1.145 UFSP2 Eleanor Williams gene: UFSP2 was added
gene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: UFSP2 was set to
Skeletal dysplasia v1.145 TYROBP Eleanor Williams Source NHS GMS was added to TYROBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TWIST2 Eleanor Williams Source NHS GMS was added to TWIST2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TWIST1 Eleanor Williams Source NHS GMS was added to TWIST1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TTC21B Eleanor Williams Source NHS GMS was added to TTC21B.
Skeletal dysplasia v1.145 TRPV4 Eleanor Williams Source NHS GMS was added to TRPV4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRPS1 Eleanor Williams Source NHS GMS was added to TRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRIP11 Eleanor Williams Source NHS GMS was added to TRIP11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TREM2 Eleanor Williams Source NHS GMS was added to TREM2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TRAPPC2 Eleanor Williams Source NHS GMS was added to TRAPPC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TP63 Eleanor Williams Source NHS GMS was added to TP63.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFSF11 Eleanor Williams Source NHS GMS was added to TNFSF11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFRSF11B Eleanor Williams Source NHS GMS was added to TNFRSF11B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TNFRSF11A Eleanor Williams Source NHS GMS was added to TNFRSF11A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM67 Eleanor Williams Source NHS GMS was added to TMEM67.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM38B Eleanor Williams Source NHS GMS was added to TMEM38B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM231 Eleanor Williams Source NHS GMS was added to TMEM231.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM216 Eleanor Williams Source NHS GMS was added to TMEM216.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMEM165 Eleanor Williams Source NHS GMS was added to TMEM165.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TMCO1 Eleanor Williams Source NHS GMS was added to TMCO1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 THPO Eleanor Williams Source NHS GMS was added to THPO.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFBR2 Eleanor Williams Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFBR1 Eleanor Williams Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFB2 Eleanor Williams Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGFB1 Eleanor Williams Source NHS GMS was added to TGFB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TGDS Eleanor Williams gene: TGDS was added
gene: TGDS was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: TGDS was set to
Skeletal dysplasia v1.145 TERT Eleanor Williams Source NHS GMS was added to TERT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTN3 Eleanor Williams Source NHS GMS was added to TCTN3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTN2 Eleanor Williams Source NHS GMS was added to TCTN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCTEX1D2 Eleanor Williams Source NHS GMS was added to TCTEX1D2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCOF1 Eleanor Williams Source NHS GMS was added to TCOF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCIRG1 Eleanor Williams Source NHS GMS was added to TCIRG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TCF12 Eleanor Williams Source NHS GMS was added to TCF12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBXAS1 Eleanor Williams Source NHS GMS was added to TBXAS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX6 Eleanor Williams Source NHS GMS was added to TBX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX5 Eleanor Williams Source NHS GMS was added to TBX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX4 Eleanor Williams Source NHS GMS was added to TBX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX3 Eleanor Williams Source NHS GMS was added to TBX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBX15 Eleanor Williams Source NHS GMS was added to TBX15.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TBCE Eleanor Williams Source NHS GMS was added to TBCE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 TALDO1 Eleanor Williams Source NHS GMS was added to TALDO1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SUMF1 Eleanor Williams Source NHS GMS was added to SUMF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SULF1 Eleanor Williams Source NHS GMS was added to SULF1.
Skeletal dysplasia v1.145 SP7 Eleanor Williams Source NHS GMS was added to SP7.
Skeletal dysplasia v1.145 SOX9 Eleanor Williams Source NHS GMS was added to SOX9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SOST Eleanor Williams Source NHS GMS was added to SOST.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SNX10 Eleanor Williams Source NHS GMS was added to SNX10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SNRPB Eleanor Williams Source NHS GMS was added to SNRPB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMOC1 Eleanor Williams Source NHS GMS was added to SMOC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMC3 Eleanor Williams Source NHS GMS was added to SMC3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMC1A Eleanor Williams Source NHS GMS was added to SMC1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMARCAL1 Eleanor Williams Source NHS GMS was added to SMARCAL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLCO5A1 Eleanor Williams Source NHS GMS was added to SLCO5A1.
Skeletal dysplasia v1.145 SLCO2A1 Eleanor Williams Source NHS GMS was added to SLCO2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC35D1 Eleanor Williams Source NHS GMS was added to SLC35D1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC34A3 Eleanor Williams Source NHS GMS was added to SLC34A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC29A3 Eleanor Williams Source NHS GMS was added to SLC29A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC26A2 Eleanor Williams Source NHS GMS was added to SLC26A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SLC17A5 Eleanor Williams Source NHS GMS was added to SLC17A5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SKI Eleanor Williams Source NHS GMS was added to SKI.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SHOX Eleanor Williams Source NHS GMS was added to SHOX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SH3PXD2B Eleanor Williams Source NHS GMS was added to SH3PXD2B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SH3BP2 Eleanor Williams Source NHS GMS was added to SH3BP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SGSH Eleanor Williams Source NHS GMS was added to SGSH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SFRP4 Eleanor Williams Source NHS GMS was added to SFRP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SF3B4 Eleanor Williams Source NHS GMS was added to SF3B4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SETD2 Eleanor Williams Source NHS GMS was added to SETD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SERPINH1 Eleanor Williams Source NHS GMS was added to SERPINH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SERPINF1 Eleanor Williams Source NHS GMS was added to SERPINF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SEC24D Eleanor Williams Source NHS GMS was added to SEC24D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SCARF2 Eleanor Williams Source NHS GMS was added to SCARF2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SBDS Eleanor Williams Source NHS GMS was added to SBDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SALL4 Eleanor Williams Source NHS GMS was added to SALL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 SALL1 Eleanor Williams Source NHS GMS was added to SALL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RUNX2 Eleanor Williams Source NHS GMS was added to RUNX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RPGRIP1L Eleanor Williams Source NHS GMS was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ROR2 Eleanor Williams Source NHS GMS was added to ROR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RNU4ATAC Eleanor Williams Source NHS GMS was added to RNU4ATAC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RMRP Eleanor Williams Source NHS GMS was added to RMRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RIPPLY2 Eleanor Williams gene: RIPPLY2 was added
gene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: RIPPLY2 was set to
Skeletal dysplasia v1.145 RFT1 Eleanor Williams Source NHS GMS was added to RFT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RECQL4 Eleanor Williams Source NHS GMS was added to RECQL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 WRN Eleanor Williams gene: WRN was added
gene: WRN was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: WRN was set to
Skeletal dysplasia v1.145 RBPJ Eleanor Williams Source NHS GMS was added to RBPJ.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RBM8A Eleanor Williams Source NHS GMS was added to RBM8A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RASGRP2 Eleanor Williams Source NHS GMS was added to RASGRP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 RAD21 Eleanor Williams Source NHS GMS was added to RAD21.
Skeletal dysplasia v1.145 RAB33B Eleanor Williams Source NHS GMS was added to RAB33B.
Skeletal dysplasia v1.145 RAB23 Eleanor Williams Source NHS GMS was added to RAB23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PUF60 Eleanor Williams Source NHS GMS was added to PUF60.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTPN11 Eleanor Williams Source NHS GMS was added to PTPN11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTHLH Eleanor Williams Source NHS GMS was added to PTHLH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTH1R Eleanor Williams Source NHS GMS was added to PTH1R.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PTDSS1 Eleanor Williams Source NHS GMS was added to PTDSS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PSPH Eleanor Williams Source NHS GMS was added to PSPH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PSAT1 Eleanor Williams Source NHS GMS was added to PSAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PRMT7 Eleanor Williams Source NHS GMS was added to PRMT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PRKAR1A Eleanor Williams Source NHS GMS was added to PRKAR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PPIB Eleanor Williams Source NHS GMS was added to PPIB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POR Eleanor Williams Source NHS GMS was added to POR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POP1 Eleanor Williams Source NHS GMS was added to POP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1D Eleanor Williams Source NHS GMS was added to POLR1D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1C Eleanor Williams Source NHS GMS was added to POLR1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POLR1A Eleanor Williams Source NHS GMS was added to POLR1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 POC1A Eleanor Williams Source NHS GMS was added to POC1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLS3 Eleanor Williams Source NHS GMS was added to PLS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLOD2 Eleanor Williams Source NHS GMS was added to PLOD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PLEKHM1 Eleanor Williams Source NHS GMS was added to PLEKHM1.
Skeletal dysplasia v1.145 PITX1 Eleanor Williams Source NHS GMS was added to PITX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIK3R1 Eleanor Williams Source NHS GMS was added to PIK3R1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIK3CA Eleanor Williams gene: PIK3CA was added
gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: PIK3CA was set to
Skeletal dysplasia v1.145 PIGV Eleanor Williams Source NHS GMS was added to PIGV.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PIGT Eleanor Williams Source NHS GMS was added to PIGT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PHGDH Eleanor Williams Source NHS GMS was added to PHGDH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PHEX Eleanor Williams Source NHS GMS was added to PHEX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PGM3 Eleanor Williams Source NHS GMS was added to PGM3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PEX7 Eleanor Williams Source NHS GMS was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PEX5 Eleanor Williams Source NHS GMS was added to PEX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PDE4D Eleanor Williams Source NHS GMS was added to PDE4D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PDE3A Eleanor Williams Source NHS GMS was added to PDE3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PCYT1A Eleanor Williams Source NHS GMS was added to PCYT1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PCNT Eleanor Williams Source NHS GMS was added to PCNT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PAPSS2 Eleanor Williams Source NHS GMS was added to PAPSS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 PAM16 Eleanor Williams Source NHS GMS was added to PAM16.
Skeletal dysplasia v1.145 P4HB Eleanor Williams Source NHS GMS was added to P4HB.
Skeletal dysplasia v1.145 P3H1 Eleanor Williams Source NHS GMS was added to P3H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OSTM1 Eleanor Williams Source NHS GMS was added to OSTM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC6 Eleanor Williams Source NHS GMS was added to ORC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC4 Eleanor Williams Source NHS GMS was added to ORC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ORC1 Eleanor Williams Source NHS GMS was added to ORC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OFD1 Eleanor Williams Source NHS GMS was added to OFD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OBSL1 Eleanor Williams Source NHS GMS was added to OBSL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 OAT Eleanor Williams gene: OAT was added
gene: OAT was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: OAT was set to
Skeletal dysplasia v1.145 NSDHL Eleanor Williams Source NHS GMS was added to NSDHL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NSD1 Eleanor Williams Source NHS GMS was added to NSD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NPR2 Eleanor Williams Source NHS GMS was added to NPR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOTCH2 Eleanor Williams Source NHS GMS was added to NOTCH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NOG Eleanor Williams Source NHS GMS was added to NOG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NLRP3 Eleanor Williams Source NHS GMS was added to NLRP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NKX3-2 Eleanor Williams Source NHS GMS was added to NKX3-2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NIPBL Eleanor Williams Source NHS GMS was added to NIPBL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NIN Eleanor Williams Source NHS GMS was added to NIN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NFIX Eleanor Williams Source NHS GMS was added to NFIX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NF1 Eleanor Williams Source NHS GMS was added to NF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NEU1 Eleanor Williams Source NHS GMS was added to NEU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NEK1 Eleanor Williams Source NHS GMS was added to NEK1.
Skeletal dysplasia v1.145 NANS Eleanor Williams Source NHS GMS was added to NANS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 NAGLU Eleanor Williams Source NHS GMS was added to NAGLU.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MYCN Eleanor Williams Source NHS GMS was added to MYCN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MSX2 Eleanor Williams Source NHS GMS was added to MSX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MPDU1 Eleanor Williams Source NHS GMS was added to MPDU1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MNX1 Eleanor Williams Source NHS GMS was added to MNX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MMP9 Eleanor Williams Source NHS GMS was added to MMP9.
Skeletal dysplasia v1.145 MMP2 Eleanor Williams Source NHS GMS was added to MMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MMP13 Eleanor Williams Source NHS GMS was added to MMP13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MKS1 Eleanor Williams Source NHS GMS was added to MKS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MIR17HG Eleanor Williams Source NHS GMS was added to MIR17HG.
Skeletal dysplasia v1.145 MGP Eleanor Williams Source NHS GMS was added to MGP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MESP2 Eleanor Williams Source NHS GMS was added to MESP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MEOX1 Eleanor Williams Source NHS GMS was added to MEOX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MEGF8 Eleanor Williams Source NHS GMS was added to MEGF8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MATN3 Eleanor Williams Source NHS GMS was added to MATN3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal dysplasia v1.145 MASP1 Eleanor Williams gene: MASP1 was added
gene: MASP1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: MASP1 was set to
Skeletal dysplasia v1.145 MAP3K7 Eleanor Williams Source NHS GMS was added to MAP3K7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MAN2B1 Eleanor Williams Source NHS GMS was added to MAN2B1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 MAFB Eleanor Williams Source NHS GMS was added to MAFB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LTBP3 Eleanor Williams Source NHS GMS was added to LTBP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LTBP2 Eleanor Williams gene: LTBP2 was added
gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: LTBP2 was set to
Skeletal dysplasia v1.145 LRP5 Eleanor Williams Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LRP4 Eleanor Williams Source NHS GMS was added to LRP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LPIN2 Eleanor Williams Source NHS GMS was added to LPIN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LONP1 Eleanor Williams Source NHS GMS was added to LONP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMX1B Eleanor Williams Source NHS GMS was added to LMX1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMNA Eleanor Williams Source NHS GMS was added to LMNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LMBR1 Eleanor Williams Source NHS GMS was added to LMBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LIFR Eleanor Williams Source NHS GMS was added to LIFR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LFNG Eleanor Williams Source NHS GMS was added to LFNG.
Skeletal dysplasia v1.145 LEMD3 Eleanor Williams Source NHS GMS was added to LEMD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 LBR Eleanor Williams Source NHS GMS was added to LBR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KMT2D Eleanor Williams gene: KMT2D was added
gene: KMT2D was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: KMT2D was set to
Skeletal dysplasia v1.145 KIF7 Eleanor Williams Source NHS GMS was added to KIF7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KIF22 Eleanor Williams Source NHS GMS was added to KIF22.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 KAT6B Eleanor Williams Source NHS GMS was added to KAT6B.
Skeletal dysplasia v1.145 KAT6A Eleanor Williams Source NHS GMS was added to KAT6A.
Skeletal dysplasia v1.145 INPPL1 Eleanor Williams Source NHS GMS was added to INPPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IMPAD1 Eleanor Williams Source NHS GMS was added to IMPAD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IL1RN Eleanor Williams Source NHS GMS was added to IL1RN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IL11RA Eleanor Williams Source NHS GMS was added to IL11RA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IKBKG Eleanor Williams Source NHS GMS was added to IKBKG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IHH Eleanor Williams Source NHS GMS was added to IHH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IGF1R Eleanor Williams gene: IGF1R was added
gene: IGF1R was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: IGF1R was set to
Skeletal dysplasia v1.145 IFT81 Eleanor Williams Source NHS GMS was added to IFT81.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT80 Eleanor Williams Source NHS GMS was added to IFT80.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT52 Eleanor Williams Source NHS GMS was added to IFT52.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT43 Eleanor Williams Source NHS GMS was added to IFT43.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT172 Eleanor Williams Source NHS GMS was added to IFT172.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT140 Eleanor Williams Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFT122 Eleanor Williams Source NHS GMS was added to IFT122.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFITM5 Eleanor Williams Source NHS GMS was added to IFITM5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IFIH1 Eleanor Williams gene: IFIH1 was added
gene: IFIH1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: IFIH1 was set to
Skeletal dysplasia v1.145 IDUA Eleanor Williams Source NHS GMS was added to IDUA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IDS Eleanor Williams Source NHS GMS was added to IDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 IDH2 Eleanor Williams Source NHS GMS was added to IDH2.
Skeletal dysplasia v1.145 IDH1 Eleanor Williams Source NHS GMS was added to IDH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ICK Eleanor Williams Source NHS GMS was added to ICK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HSPG2 Eleanor Williams Source NHS GMS was added to HSPG2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HPGD Eleanor Williams Source NHS GMS was added to HPGD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXD13 Eleanor Williams Source NHS GMS was added to HOXD13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXD11 Eleanor Williams gene: HOXD11 was added
gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: HOXD11 was set to
Skeletal dysplasia v1.145 HOXA13 Eleanor Williams Source NHS GMS was added to HOXA13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HOXA11 Eleanor Williams Source NHS GMS was added to HOXA11.
Skeletal dysplasia v1.145 HNRNPK Eleanor Williams Source NHS GMS was added to HNRNPK.
Skeletal dysplasia v1.145 HGSNAT Eleanor Williams Source NHS GMS was added to HGSNAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HES7 Eleanor Williams Source NHS GMS was added to HES7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HDAC8 Eleanor Williams Source NHS GMS was added to HDAC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 HDAC4 Eleanor Williams Source NHS GMS was added to HDAC4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GZF1 Eleanor Williams Source NHS GMS was added to GZF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GUSB Eleanor Williams Source NHS GMS was added to GUSB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GSC Eleanor Williams Source NHS GMS was added to GSC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GPX4 Eleanor Williams Source NHS GMS was added to GPX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GPC6 Eleanor Williams Source NHS GMS was added to GPC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GORAB Eleanor Williams Source NHS GMS was added to GORAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNS Eleanor Williams Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPTG Eleanor Williams Source NHS GMS was added to GNPTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPTAB Eleanor Williams Source NHS GMS was added to GNPTAB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNPAT Eleanor Williams Source NHS GMS was added to GNPAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GNAS Eleanor Williams Source NHS GMS was added to GNAS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GLI3 Eleanor Williams Source NHS GMS was added to GLI3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GLB1 Eleanor Williams Source NHS GMS was added to GLB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GJA1 Eleanor Williams Source NHS GMS was added to GJA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GHR Eleanor Williams Source NHS GMS was added to GHR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF6 Eleanor Williams Source NHS GMS was added to GDF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF5 Eleanor Williams Source NHS GMS was added to GDF5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GDF3 Eleanor Williams gene: GDF3 was added
gene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GDF3 was set to
Skeletal dysplasia v1.145 GALNT3 Eleanor Williams Source NHS GMS was added to GALNT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 GALNS Eleanor Williams Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FZD2 Eleanor Williams Source NHS GMS was added to FZD2.
Skeletal dysplasia v1.145 FUCA1 Eleanor Williams Source NHS GMS was added to FUCA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FN1 Eleanor Williams gene: FN1 was added
gene: FN1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FN1 was set to
Skeletal dysplasia v1.145 FLNB Eleanor Williams Source NHS GMS was added to FLNB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FLNA Eleanor Williams Source NHS GMS was added to FLNA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FKBP10 Eleanor Williams Source NHS GMS was added to FKBP10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FIG4 Eleanor Williams Source NHS GMS was added to FIG4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR3 Eleanor Williams Source NHS GMS was added to FGFR3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR2 Eleanor Williams Source NHS GMS was added to FGFR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGFR1 Eleanor Williams Source NHS GMS was added to FGFR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF9 Eleanor Williams Source NHS GMS was added to FGF9.
Skeletal dysplasia v1.145 FGF23 Eleanor Williams Source NHS GMS was added to FGF23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF16 Eleanor Williams Source NHS GMS was added to FGF16.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FGF10 Eleanor Williams Source NHS GMS was added to FGF10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FERMT3 Eleanor Williams Source NHS GMS was added to FERMT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBN2 Eleanor Williams Source NHS GMS was added to FBN2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FBLN1 Eleanor Williams Source NHS GMS was added to FBLN1.
Skeletal dysplasia v1.145 FBLIM1 Eleanor Williams gene: FBLIM1 was added
gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: FBLIM1 was set to
Skeletal dysplasia v1.145 FAM58A Eleanor Williams Source NHS GMS was added to FAM58A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FAM20C Eleanor Williams Source NHS GMS was added to FAM20C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 FAM111A Eleanor Williams Source NHS GMS was added to FAM111A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EZH2 Eleanor Williams Source NHS GMS was added to EZH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXTL3 Eleanor Williams Source NHS GMS was added to EXTL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXT2 Eleanor Williams Source NHS GMS was added to EXT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EXT1 Eleanor Williams Source NHS GMS was added to EXT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EVC2 Eleanor Williams Source NHS GMS was added to EVC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EVC Eleanor Williams Source NHS GMS was added to EVC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ESCO2 Eleanor Williams Source NHS GMS was added to ESCO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ERF Eleanor Williams Source NHS GMS was added to ERF.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EP300 Eleanor Williams Source NHS GMS was added to EP300.
Skeletal dysplasia v1.145 EOGT Eleanor Williams Source NHS GMS was added to EOGT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ENPP1 Eleanor Williams Source NHS GMS was added to ENPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EIF2AK3 Eleanor Williams Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EFTUD2 Eleanor Williams Source NHS GMS was added to EFTUD2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EFNB1 Eleanor Williams Source NHS GMS was added to EFNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EED Eleanor Williams Source NHS GMS was added to EED.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EBP Eleanor Williams Source NHS GMS was added to EBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DYNC2LI1 Eleanor Williams Source NHS GMS was added to DYNC2LI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DYNC2H1 Eleanor Williams Source NHS GMS was added to DYNC2H1.
Skeletal dysplasia v1.145 DYM Eleanor Williams Source NHS GMS was added to DYM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DVL3 Eleanor Williams Source NHS GMS was added to DVL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DVL1 Eleanor Williams Source NHS GMS was added to DVL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DPM1 Eleanor Williams Source NHS GMS was added to DPM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DOCK6 Eleanor Williams Source NHS GMS was added to DOCK6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DNMT3A Eleanor Williams Source NHS GMS was added to DNMT3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DMP1 Eleanor Williams Source NHS GMS was added to DMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLX6 Eleanor Williams Source NHS GMS was added to DLX6.
Skeletal dysplasia v1.145 DLX5 Eleanor Williams Source NHS GMS was added to DLX5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLX3 Eleanor Williams Source NHS GMS was added to DLX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLL4 Eleanor Williams Source NHS GMS was added to DLL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DLL3 Eleanor Williams Source NHS GMS was added to DLL3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DIS3L2 Eleanor Williams Source NHS GMS was added to DIS3L2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DHODH Eleanor Williams Source NHS GMS was added to DHODH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DHCR24 Eleanor Williams Source NHS GMS was added to DHCR24.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DDR2 Eleanor Williams Source NHS GMS was added to DDR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 DCC Eleanor Williams Source NHS GMS was added to DCC.
Skeletal dysplasia v1.145 CYP27B1 Eleanor Williams Source NHS GMS was added to CYP27B1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CUL7 Eleanor Williams Source NHS GMS was added to CUL7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSK Eleanor Williams Source NHS GMS was added to CTSK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSC Eleanor Williams Source NHS GMS was added to CTSC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CTSA Eleanor Williams Source NHS GMS was added to CTSA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CSPP1 Eleanor Williams Source NHS GMS was added to CSPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CRTAP Eleanor Williams Source NHS GMS was added to CRTAP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CREBBP Eleanor Williams Source NHS GMS was added to CREBBP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CREB3L1 Eleanor Williams Source NHS GMS was added to CREB3L1.
Skeletal dysplasia v1.145 COMP Eleanor Williams Source NHS GMS was added to COMP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COLEC11 Eleanor Williams Source NHS GMS was added to COLEC11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COLEC10 Eleanor Williams gene: COLEC10 was added
gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: COLEC10 was set to
Skeletal dysplasia v1.145 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL9A2 Eleanor Williams Source NHS GMS was added to COL9A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL9A1 Eleanor Williams Source NHS GMS was added to COL9A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COL10A1 Eleanor Williams Source NHS GMS was added to COL10A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 COG1 Eleanor Williams Source NHS GMS was added to COG1.
Skeletal dysplasia v1.145 CLCN7 Eleanor Williams Source NHS GMS was added to CLCN7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CLCN5 Eleanor Williams Source NHS GMS was added to CLCN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CKAP2L Eleanor Williams gene: CKAP2L was added
gene: CKAP2L was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CKAP2L was set to
Skeletal dysplasia v1.145 CHSY1 Eleanor Williams Source NHS GMS was added to CHSY1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CHST3 Eleanor Williams Source NHS GMS was added to CHST3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 C21orf2 Eleanor Williams Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CEP290 Eleanor Williams Source NHS GMS was added to CEP290.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CEP120 Eleanor Williams Source NHS GMS was added to CEP120.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDT1 Eleanor Williams Source NHS GMS was added to CDT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDKN1C Eleanor Williams Source NHS GMS was added to CDKN1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDH3 Eleanor Williams Source NHS GMS was added to CDH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CDC45 Eleanor Williams Source NHS GMS was added to CDC45.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CD96 Eleanor Williams gene: CD96 was added
gene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: CD96 was set to
Skeletal dysplasia v1.145 CCDC8 Eleanor Williams Source NHS GMS was added to CCDC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CC2D2A Eleanor Williams Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CASR Eleanor Williams Source NHS GMS was added to CASR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CANT1 Eleanor Williams Source NHS GMS was added to CANT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 CA2 Eleanor Williams Source NHS GMS was added to CA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 C2CD3 Eleanor Williams Source NHS GMS was added to C2CD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMPR1B Eleanor Williams Source NHS GMS was added to BMPR1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMPER Eleanor Williams Source NHS GMS was added to BMPER.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMP2 Eleanor Williams Source NHS GMS was added to BMP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BMP1 Eleanor Williams Source NHS GMS was added to BMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 BHLHA9 Eleanor Williams Source NHS GMS was added to BHLHA9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B9D1 Eleanor Williams Source NHS GMS was added to B9D1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B3GAT3 Eleanor Williams Source NHS GMS was added to B3GAT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ATP6V0A2 Eleanor Williams Source NHS GMS was added to ATP6V0A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ASXL2 Eleanor Williams Source NHS GMS was added to ASXL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ASXL1 Eleanor Williams Source NHS GMS was added to ASXL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARSE Eleanor Williams Source NHS GMS was added to ARSE.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARSB Eleanor Williams Source NHS GMS was added to ARSB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ARID1B Eleanor Williams Source NHS GMS was added to ARID1B.
Skeletal dysplasia v1.145 ARHGAP31 Eleanor Williams Source NHS GMS was added to ARHGAP31.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANTXR2 Eleanor Williams Source NHS GMS was added to ANTXR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANO5 Eleanor Williams Source NHS GMS was added to ANO5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANKRD11 Eleanor Williams Source NHS GMS was added to ANKRD11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ANKH Eleanor Williams Source NHS GMS was added to ANKH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AMER1 Eleanor Williams Source NHS GMS was added to AMER1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX4 Eleanor Williams Source NHS GMS was added to ALX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX3 Eleanor Williams Source NHS GMS was added to ALX3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALX1 Eleanor Williams Source NHS GMS was added to ALX1.
Skeletal dysplasia v1.145 ALPL Eleanor Williams Source NHS GMS was added to ALPL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG9 Eleanor Williams Source NHS GMS was added to ALG9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG3 Eleanor Williams Source NHS GMS was added to ALG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ALG12 Eleanor Williams Source NHS GMS was added to ALG12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AKT1 Eleanor Williams Source NHS GMS was added to AKT1.
Skeletal dysplasia v1.145 AGPS Eleanor Williams Source NHS GMS was added to AGPS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 AGA Eleanor Williams Source NHS GMS was added to AGA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ADAMTSL2 Eleanor Williams Source NHS GMS was added to ADAMTSL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ADAMTS17 Eleanor Williams gene: ADAMTS17 was added
gene: ADAMTS17 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS17 was set to
Skeletal dysplasia v1.145 ADAMTS10 Eleanor Williams gene: ADAMTS10 was added
gene: ADAMTS10 was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS10 was set to
Skeletal dysplasia v1.145 ACVR1 Eleanor Williams Source NHS GMS was added to ACVR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ACP5 Eleanor Williams Source NHS GMS was added to ACP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ACAN Eleanor Williams Source NHS GMS was added to ACAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 ABL1 Eleanor Williams Source NHS GMS was added to ABL1.
Skeletal dysplasia v1.145 ABCC9 Eleanor Williams Source NHS GMS was added to ABCC9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Inherited bleeding disorders v1.152 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Inherited bleeding disorders v1.152 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Inherited bleeding disorders v1.151 ACTB Louise Daugherty gene: ACTB was added
gene: ACTB was added to Inherited bleeding disorders. Sources: Literature
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159; 22366783
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 with macrothrombocytopenia
Review for gene: ACTB was set to GREEN
Added comment: PMID: 30315159 describe six individuals from four unrelated families carrying de novo or co-segregating heterozygous variants in exons 5 and 6 of the ACTB gene. Patients are clinically distinct from those with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF), presenting with mild developmental disability, unspecific minor facial anomalies, microcephaly and thrombocytopenia with platelet anisotropy (variable size including normal and enlarged platelets).
Sources: Literature
Genetic epilepsy syndromes v1.30 TRRAP Konstantinos Varvagiannis gene: TRRAP was added
gene: TRRAP was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Global developmental delay; Intellectual disability; Autism; Microcephaly; Abnormal heart morphology; Abnormality of the urinary system; Seizures
Penetrance for gene: TRRAP were set to unknown
Mode of pathogenicity for gene: TRRAP 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: TRRAP was set to AMBER
Added comment: Cogné et al. (DDD study among the co-authors - PMID: 30827496) report on 24 individuals with pathogenic TRRAP variants.

17 different variants were reported. All variants were missense SNVs and on most occasions had occurred as de novo or apparently de novo events (paternity and maternity not checked). On one occasion, a parent was not unavailable although the respective grand-parents were not found to harbor the variant. Parental germline mosaicism explained the occurence of a variant in 2 sibs.

The authors suggest a strong genotype-phenotype correlation. Individuals whose variant localized within the residues 1031-1159 (NM_001244580.1) presented with a syndromic form of ID with additional malformations. ID was a universal feature in this group (for those subjects evaluated). For variants outside this cluster of residues the phenotype was rather that of ASD without ID or isolated ID with or without ASD, albeit with some exceptions (eg. F860L also associated with a syndromic presentation). ID was a feature in the majority of individuals belonging to the latter group (67% - all with DD) or overall irrespective of the variant localization (85% for those evaluated - all with DD).

** Epilepsy was a feature in 4 individuals (4/24) belonging to either group. **

All 17 variants were absent from gnomAD with CADD scores supporting a deleterious effect (SIFT/PolyPhen2 (both) predicted a tolerated/benign effect for some eg. Ala1043Thr). A few variants were recurrent, namely Ala1043Thr (5 individuals), Glu1106Lys (2), Gly1883Arg (2), Pro1932Leu (in 2 sibs).

6 further subjects (individuals 25-30, reported separately in the supplement) harbored 6 additional variants with lesser evidence for pathogenicity.

TRRAP is among the 5 most intolerant genes to missense mutations (z-score of 10.1 in ExAC) while it is also intolerant to LoF variants (pLI of 1). No deletions have been reported in DECIPHER and no LoF were identified in the study. Given type of variants and their clustering rather a gain-of-function effect or dominant-negative effect is suggested. As the authors note a LoF effect of non-clustering variants, associated with a milder phenotype cannot excluded. [Mode of pathogenicity to change if thought to be useful].

TRRAP encodes a protein involved in the recruitment to chromatin of histone acetyltransferases. The latter control the process of acetylation of lysine residues in histones and other DNA-binding proteins thus playing a major role in regulation of gene expression. In line with this, RNA sequencing analysis in skin fibroblasts from affected subjects demonstrated dysregulation of expression for several genes implicated in neuronal function and ion transport.

As summarized by the authors: In mice, Trapp knockout is embryonically lethal. Brain-specific knockout leads to premature differentiation of neural progenitors and abnormal brain development. Brain atrophy and microcephaly are observed (microcephaly was a feature in some affected individuals as well, primarily those with variants affecting residues 1031-1159). [PMIDs cited: 11544477, 24792116].

De novo TRRAP variants have been reported also in individuals with neuropsychiatric disorders (PMIDs: 21822266, 23042115, 28392909, 30424743) while TRRAP has been classified among the prenatally-biased genes relevant to its brain expression (PMID:23042115).

A de novo missense variant (c.11270G>A or p.R3757Q) was also previously reported in a study of 264 individuals with epileptic encephalopathy (Epi4K Consortium - PMID: 23934111 - indiv. ND29352).
-----------
TRRAP is not associated with any phenotype in OMIM, nor in G2P.
-----------
As a result, this gene can be considered for inclusion in the epilepsy panel as amber or green.
Sources: Literature
Intellectual disability v2.783 TRRAP Konstantinos Varvagiannis gene: TRRAP was added
gene: TRRAP was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Global developmental delay; Intellectual disability; Autism; Microcephaly; Abnormal heart morphology; Abnormality of the urinary system; Seizures
Penetrance for gene: TRRAP were set to unknown
Mode of pathogenicity for gene: TRRAP 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: TRRAP was set to GREEN
gene: TRRAP was marked as current diagnostic
Added comment: Cogné et al. (DDD study among the co-authors - PMID: 30827496) report on 24 individuals with pathogenic TRRAP variants.

17 different variants were reported. All variants were missense SNVs and on most occasions had occurred as de novo or apparently de novo events (paternity and maternity not checked). On one occasion, a parent was not unavailable although the respective grand-parents were not found to harbor the variant. Parental germline mosaicism explained the occurence of a variant in 2 sibs.

The authors suggest a strong genotype-phenotype correlation. Individuals whose variant localized within the residues 1031-1159 (NM_001244580.1) presented with a syndromic form of ID with additional malformations. ID was a universal feature in this group (for those subjects evaluated). For variants outside this cluster of residues the phenotype was rather that of ASD without ID or isolated ID with or without ASD, albeit with some exceptions (eg. F860L also associated with a syndromic presentation). ID was a feature in the majority of individuals belonging to the latter group (67% - all with DD) or overall irrespective of the variant localization (85% for those evaluated - all with DD).

Epilepsy was a feature in 4 individuals (4/24) belonging to either group.

All 17 variants were absent from gnomAD with CADD scores supporting a deleterious effect (SIFT/PolyPhen2 (both) predicted a tolerated/benign effect for some eg. Ala1043Thr). A few variants were recurrent, namely Ala1043Thr (5 individuals), Glu1106Lys (2), Gly1883Arg (2), Pro1932Leu (in 2 sibs).

6 further subjects (individuals 25-30, reported separately in the supplement) harbored 6 additional variants with lesser evidence for pathogenicity.

TRRAP is among the 5 most intolerant genes to missense mutations (z-score of 10.1 in ExAC) while it is also intolerant to LoF variants (pLI of 1). No deletions have been reported in DECIPHER and no LoF were identified in the study. Given type of variants and their clustering rather a gain-of-function effect or dominant-negative effect is suggested. As the authors note a LoF effect of non-clustering variants, associated with a milder phenotype cannot excluded. [Mode of pathogenicity to change if thought to be useful].

TRRAP encodes a protein involved in the recruitment to chromatin of histone acetyltransferases. The latter control the process of acetylation of lysine residues in histones and other DNA-binding proteins thus playing a major role in regulation of gene expression. In line with this, RNA sequencing analysis in skin fibroblasts from affected subjects demonstrated dysregulation of expression for several genes implicated in neuronal function and ion transport.

As summarized by the authors: In mice, Trapp knockout is embryonically lethal. Brain-specific knockout leads to premature differentiation of neural progenitors and abnormal brain development. Brain atrophy and microcephaly are observed (microcephaly was a feature in some affected individuals as well, primarily those with variants affecting residues 1031-1159). [PMIDs cited: 11544477, 24792116].

De novo TRRAP variants have been reported also in individuals with neuropsychiatric disorders (PMIDs: 21822266, 23042115, 28392909, 30424743) while TRRAP has been classified among the prenatally-biased genes relevant to its brain expression (PMID:23042115).

A de novo missense variant (c.11270G>A or p.R3757Q) was also previously reported in a study of 264 individuals with epileptic encephalopathy (Epi4K Consortium - PMID: 23934111 - indiv. ND29352).
-----------
TRRAP is not associated with any phenotype in OMIM, nor in G2P.
The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx participating in the current study).
-----------
As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
Intellectual disability v2.783 Richard Scott List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability – microarray; fragile X and sequencing to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability - microarray; fragile X and sequencing
Fetal anomalies v0.120 AAAS Ellen McDonagh Marked gene: AAAS as ready
Fetal anomalies v0.120 AAAS Ellen McDonagh Gene: aaas has been classified as Green List (High Evidence).
Hypogonadotropic hypogonadism idiopathic v0.1 Ivone Leong Panel status changed from internal to public
Hypogonadotropic hypogonadism v1.25 Ivone Leong Panel types changed to Rare Disease 100K
Hypogonadotropic hypogonadism idiopathic v0.0 Ivone Leong Added Panel Hypogonadotropic hypogonadism idiopathic
Set panel types to: GMS Rare Disease Virtual
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.2 Ivone Leong Panel status changed from internal to public
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.1 Ivone Leong Panel name changed from Inherited phaeochromocytoma and paraganglioma – excluding NF1 to Inherited phaeochromocytoma and paraganglioma excluding NF1
Inherited phaeochromocytoma and paraganglioma v1.5 Ivone Leong Panel types changed to Rare Disease 100K
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.0 Ivone Leong Added Panel Inherited phaeochromocytoma and paraganglioma – excluding NF1
Set panel types to: GMS Rare Disease Virtual
Lipodystrophy - childhood onset v1.1 PLIN1 Anna de Burca Classified gene: PLIN1 as Green List (high evidence)
Lipodystrophy - childhood onset v1.1 PLIN1 Anna de Burca Gene: plin1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v1.0 PLIN1 Anna de Burca reviewed gene: PLIN1: 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: 30020498; Phenotypes: Lipodystrophy, familial partial, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Endocrine neoplasms v0.1 Ivone Leong Panel status changed from internal to public
Multiple endocrine tumours v1.9 Ivone Leong Panel name changed from Endocrine neoplasia to Multiple endocrine tumours
List of related panels changed from Multiple endocrine tumours; Multiple endocrine neoplasia type 1 to Multiple endocrine tumours; Multiple endocrine neoplasia type 1; Endocrine neoplasia
Panel types changed to Rare Disease 100K
Endocrine neoplasms v0.0 Ivone Leong Added Panel Endocrine neoplasms
Set panel types to: GMS Rare Disease Virtual
Craniosynostosis v1.47 ZIC1 Tracy Lester reviewed gene: ZIC1: 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: 26340333; Phenotypes: Craniosynostosis 6 - 616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Craniosynostosis v1.47 ZEB2 Tracy Lester reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26097173, 25123255, 24300291, 18076118; Phenotypes: Mowat-Wilson syndrome - 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 WDR35 Tracy Lester reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: 24123776; Phenotypes: Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) - 613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 WDR19 Tracy Lester reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia type 4- 614378; Mode of inheritance:
Craniosynostosis v1.47 TWIST2 Tracy Lester reviewed gene: TWIST2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3, Setleis type; Mode of inheritance:
Craniosynostosis v1.47 TWIST1 Tracy Lester reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8988166, 8988167; Phenotypes: Saethre-Chotzen syndrome, 101400, Saethre-Chotzen syndrome with eyelid anomalies, 101400, Craniosynostosis, type 1, 123100, Robinow-Sorauf syndrome, 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Craniosynostosis v1.47 TMCO1 Tracy Lester reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism, skeletal anomalies and MR syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 TLK2 Tracy Lester reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843, https://doi.org/10.1016/j.ajhg.2018.04.014; Phenotypes: AD MR type 57 - 618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Craniosynostosis v1.47 TICRR Tracy Lester reviewed gene: TICRR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: coronal craniosynostosis, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 TGFBR2 Tracy Lester reviewed gene: TGFBR2: 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: 15731757; Phenotypes: Loeys-Dietz syndrome 2 - 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 TGFBR1 Tracy Lester reviewed gene: TGFBR1: 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: 15731757; Phenotypes: Loeys-Dietz syndrome 1 - 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 TCOF1 Tracy Lester reviewed gene: TCOF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Treacher-Collins syndrome; Mode of inheritance:
Craniosynostosis v1.47 TCF12 Tracy Lester reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436, 25271085, 24736737; Phenotypes: Craniosynostosis 3, 615314, Craniosynostosis 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Craniosynostosis v1.47 STAT3 Tracy Lester reviewed gene: STAT3: 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: 20159255; Phenotypes: Hyper IgE recurrent infection syndrome - 147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 SPECC1L Tracy Lester reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz G/BBB syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 SOX6 Tracy Lester reviewed gene: SOX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No disease association on OMIM; Mode of inheritance:
Craniosynostosis v1.47 SOX10 Tracy Lester reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, Hirschsprung disease; Mode of inheritance:
Craniosynostosis v1.47 SMO Tracy Lester reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic, 601707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Craniosynostosis v1.47 SMAD6 Tracy Lester reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 27606499, 23438589, 28808027, 28659821; Phenotypes: metopic synostosis, sagittal synostosis, {Craniosynostosis 7, susceptibility to} 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Craniosynostosis v1.47 SLC3A2 Tracy Lester reviewed gene: SLC3A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: no disorder assigned on OMIM - possible role in immune function based on mouse studies.; Mode of inheritance:
Craniosynostosis v1.47 SLC25A24 Tracy Lester reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fontaine progeroid syndrome -612289, Gorlin-Chaudhry-Moss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 SKI Tracy Lester reviewed gene: SKI: 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: 23023332, 23103230, 24736733; Phenotypes: Shprintzen-Goldberg syndrome - 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 SIX1 Tracy Lester reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: sagittal synostosis, multi-suture synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 SHOC2 Tracy Lester reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan-like syndrome with loose anagen hair- 607721; Mode of inheritance:
Craniosynostosis v1.47 SH3PXD2B Tracy Lester reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23140272; Phenotypes: Frank-ter-har 249420, Borrone dermato-cardio-skeletal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 SEC24D Tracy Lester reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cole-Carpenter syndrome 2; Mode of inheritance:
Craniosynostosis v1.47 SCN4A Tracy Lester reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Craniosynostosis v1.47 SCARF2 Tracy Lester reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Van den Ende-Gupta syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 RUNX2 Tracy Lester reviewed gene: RUNX2: 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: 20683987, 23307468, 23348268; Phenotypes: Craniosynostosis - not on OMIM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Craniosynostosis v1.47 RSPRY1 Tracy Lester reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Craniosynostosis v1.47 RECQL4 Tracy Lester reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24635570; Phenotypes: Baller-Gerold syndrome - 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 RAB23 Tracy Lester reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: 17503333; Phenotypes: Carpenter syndrome, 201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Craniosynostosis v1.47 PTPRD Tracy Lester reviewed gene: PTPRD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Craniosynostosis v1.47 PTPN11 Tracy Lester reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome type 1 - 163950, leopard syndrome - 151100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 PRRX1 Tracy Lester reviewed gene: PRRX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: craniosynostosis, various combinations of sutures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 POR Tracy Lester reviewed gene: POR: Rating: GREEN; Mode of pathogenicity: ; Publications: 14758361; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis: 201750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Craniosynostosis v1.47 PHEX Tracy Lester reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: 17551721, 19242361; Phenotypes: X-linked hypophosphataemic rickets; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v1.47 PAX3 Tracy Lester reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniofacial-deafness-hand syndrome, Waardenburg syndrome; Mode of inheritance:
Craniosynostosis v1.47 P4HB Tracy Lester reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 OSTM1 Tracy Lester reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: AR osteopetrosis 5; Mode of inheritance:
Craniosynostosis v1.47 NOG Tracy Lester reviewed gene: NOG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Tarsal-carpal coalition syndrome, Multiple synostosis syndrome, Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal,, Brachydactyly type B2. ; Mode of inheritance:
Craniosynostosis v1.47 NFIX Tracy Lester reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Marshall-Smith syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 MSX2 Tracy Lester reviewed gene: MSX2: 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: 8106171, 23949913, 23918290; Phenotypes: Craniosynostosis, type 2, 604757, Parietal foramina 1, 168500, Parietal foramina with cleidocranial dysplasia, 168550, Craniosynostosis, MSX2-related craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Craniosynostosis v1.47 MEGF8 Tracy Lester reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063620; Phenotypes: Carpenter 2 614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 MASP1 Tracy Lester reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 3MC syndrome 1 - 257920; Mode of inheritance:
Craniosynostosis v1.47 LRP5 Tracy Lester reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Craniosynostosis v1.47 LMX1B Tracy Lester reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome - LOF; Mode of inheritance:
Craniosynostosis v1.47 KRAS Tracy Lester reviewed gene: KRAS: 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: 19396835, 22488932; Phenotypes: Noonan syndrome type 3 - 609942, cardiofaciocutaneous syndrome type 2 - 615278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 KMT2D Tracy Lester reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 20672944, 21280141; Phenotypes: Kabuki syndrome 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 KDM6A Tracy Lester reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki syndrome 2 - 300867; Mode of inheritance:
Craniosynostosis v1.47 KAT6B Tracy Lester reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: KAT6B-related disorders; Mode of inheritance:
Craniosynostosis v1.47 KAT6A Tracy Lester reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728775, 25728777; Phenotypes: Mental retardation (with Craniosynostosis), 616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 KANSL1-AS1 Tracy Lester reviewed gene: KANSL1-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Koolen-de Vries/KANSL haploinsufficiency syndrome.; Mode of inheritance:
Craniosynostosis v1.47 JAG1 Tracy Lester reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alagille syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 IRX5 Tracy Lester reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: 22581230; Phenotypes: Hamamy syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IMPAD1 Tracy Lester reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IL11RA Tracy Lester reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21741611, 24002815, 24498618; Phenotypes: Craniosynostosis and dental anomalies, 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Craniosynostosis v1.47 IHH Tracy Lester reviewed gene: IHH: 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: 25692887, 21167467; Phenotypes: Acrocapitofermoral dysplasia 607778, bracydactyly type A1 (112500), chr2q35dup syndrome(185900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Craniosynostosis v1.47 IGF1R Tracy Lester reviewed gene: IGF1R: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Resistance to insulin-like growth factor I; Mode of inheritance:
Craniosynostosis v1.47 IFT43 Tracy Lester reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioectodermal dysplasia type 3 - 614099, Short-rib thoracic dysplasia 18 with polydactyly -617866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IFT140 Tracy Lester reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia with or without polydactyly, asphyxiating thoracic dysplasia (ATD,Jeune); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IFT122 Tracy Lester reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: ; Publications: 24689072, 20493458; Phenotypes: Cranioectodermal dysplasia type 1 - 218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IDUA Tracy Lester reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23917744; Phenotypes: Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014, 607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 IDS Tracy Lester reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15314824; Phenotypes: Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Craniosynostosis v1.47 HUWE1 Tracy Lester reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked intellectual disability with CSS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v1.47 GPC3 Tracy Lester reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Craniosynostosis v1.47 GNPTAB Tracy Lester reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24891900; Phenotypes: Mucolipidosis II alpha/beta(I cell disease) - 252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.47 GNAS Tracy Lester reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19530187, 26340332; Phenotypes: pseudohypoparathyroidism ty