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Pigmentary skin disorders v0.27 SHOC2 Catherine Snow Added phenotypes NSLH1; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 for gene: SHOC2
Publications for gene SHOC2 were changed from to 19684605
Pigmentary skin disorders v0.27 SASH1 Catherine Snow Mode of inheritance for gene SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes DUH1; DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 for gene: SASH1
Publications for gene SASH1 were changed from to 27659786
Pigmentary skin disorders v0.27 SAMD9 Catherine Snow Added phenotypes NFTC, MIRAGE SYNDROME; TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; MIRAGE for gene: SAMD9
Publications for gene SAMD9 were changed from to 27182967; 16960814
Pigmentary skin disorders v0.27 RIT1 Catherine Snow Added phenotypes NOONAN SYNDROME 8; NS8 for gene: RIT1
Publications for gene RIT1 were changed from to 23791108
Pigmentary skin disorders v0.27 RECQL4 Catherine Snow Added phenotypes RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 for gene: RECQL4
Publications for gene RECQL4 were changed from to 12952869; 10319867
Pigmentary skin disorders v0.27 RAF1 Catherine Snow Added phenotypes LPRD2, NOONAN SYNDROME 5; LEOPARD SYNDROME 2; NS5 for gene: RAF1
Publications for gene RAF1 were changed from to 17603483
Pigmentary skin disorders v0.27 RAD51C Catherine Snow Source Expert Review Amber was added to RAD51C.
Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO for gene: RAD51C
Publications for gene RAD51C were changed from to 20400963
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pigmentary skin disorders v0.27 RAB27A Catherine Snow Added phenotypes GS2; GRISCELLI SYNDROME, TYPE 2 for gene: RAB27A
Publications for gene RAB27A were changed from to 10835631
Pigmentary skin disorders v0.27 PTPN11 Catherine Snow Added phenotypes LEOPARD SYNDROME 1; NS1; LPRD1, NOONAN SYNDROME 1 for gene: PTPN11
Publications for gene PTPN11 were changed from to 11704759; 15389709
Pigmentary skin disorders v0.27 PTEN Catherine Snow Added phenotypes COWDEN SYNDROME 1; CWS1 for gene: PTEN
Publications for gene PTEN were changed from to 9140396
Pigmentary skin disorders v0.27 PSENEN Catherine Snow Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN
Publications for gene PSENEN were changed from to 20929727
Pigmentary skin disorders v0.27 PRKAR1A Catherine Snow Added phenotypes PPNAD1; CARNEY COMPLEX, TYPE 1; CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 for gene: PRKAR1A
Publications for gene PRKAR1A were changed from to 12213893; 10973256
Pigmentary skin disorders v0.27 PPP1CB Catherine Snow Added phenotypes NSLH2; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 for gene: PPP1CB
Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 27264673
Pigmentary skin disorders v0.27 PORCN Catherine Snow Added phenotypes FOCAL DERMAL HYPOPLASIA; FDH for gene: PORCN
Publications for gene PORCN were changed from to 17546030
Pigmentary skin disorders v0.27 POGLUT1 Catherine Snow Added phenotypes DDD4; DOWLING-DEGOS DISEASE 4 for gene: POGLUT1
Publications for gene POGLUT1 were changed from to 24387993
Pigmentary skin disorders v0.27 POFUT1 Catherine Snow Added phenotypes DDD2; DOWLING-DEGOS DISEASE 2 for gene: POFUT1
Publications for gene POFUT1 were changed from to 23684010
Pigmentary skin disorders v0.27 PMS2 Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2
Publications for gene PMS2 were changed from to 10763829
Pigmentary skin disorders v0.27 PIK3CA Catherine Snow Added phenotypes MCAP; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME for gene: PIK3CA
Publications for gene PIK3CA were changed from to 22729224
Pigmentary skin disorders v0.27 PAX3 Catherine Snow Added phenotypes WAARDENBURG SYNDROME, TYPE 1; WS3; WS1, WAARDENBURG SYNDROME, TYPE 3 for gene: PAX3
Publications for gene PAX3 were changed from to 8533800; 8447316
Pigmentary skin disorders v0.27 PALB2 Catherine Snow Added phenotypes FANCN; FANCONI ANEMIA, COMPLEMENTATION GROUP N for gene: PALB2
Publications for gene PALB2 were changed from to 17200672
Pigmentary skin disorders v0.27 OSMR Catherine Snow Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR
Publications for gene OSMR were changed from to 18179886
Pigmentary skin disorders v0.27 OCA2 Catherine Snow Added phenotypes OCA2; ALBINISM, OCULOCUTANEOUS, TYPE II for gene: OCA2
Publications for gene OCA2 were changed from to 8302318
Pigmentary skin disorders v0.27 NRAS Catherine Snow Added phenotypes NS6; NOONAN SYNDROME 6 for gene: NRAS
Publications for gene NRAS were changed from to 19966803
Pigmentary skin disorders v0.27 NF2 Catherine Snow Added phenotypes NF2; NEUROFIBROMATOSIS, TYPE II for gene: NF2
Publications for gene NF2 were changed from to 7913580
Pigmentary skin disorders v0.27 NF1 Catherine Snow Added phenotypes NEUROFIBROMATOSIS, TYPE I; NF1 for gene: NF1
Publications for gene NF1 were changed from to 9003501
Pigmentary skin disorders v0.27 MYO5A Catherine Snow Added phenotypes GRISCELLI SYNDROME, TYPE 1; GS1 for gene: MYO5A
Publications for gene MYO5A were changed from to 9207796
Pigmentary skin disorders v0.27 MTOR Catherine Snow Added phenotypes SKS; SMITH-KINGSMORE SYNDROME for gene: MTOR
Publications for gene MTOR were changed from to 27830187
Pigmentary skin disorders v0.27 MSH6 Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH6
Publications for gene MSH6 were changed from to 16283678
Pigmentary skin disorders v0.27 MSH2 Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH2
Publications for gene MSH2 were changed from to 16372347
Pigmentary skin disorders v0.27 MLH1 Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MLH1
Publications for gene MLH1 were changed from to 17440981
Pigmentary skin disorders v0.27 MITF Catherine Snow Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes COMMAD, WAARDENBURG SYNDROME, TYPE 2A; WS2A; COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS for gene: MITF
Publications for gene MITF were changed from to 27889061; 7874167
Pigmentary skin disorders v0.27 MC1R Catherine Snow Source Expert Review Red was added to MC1R.
Added phenotypes Susceptibility to facial pigmented spots; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma for gene: MC1R
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pigmentary skin disorders v0.27 MAP2K2 Catherine Snow Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 for gene: MAP2K2
Publications for gene MAP2K2 were changed from to 18042262
Pigmentary skin disorders v0.27 MAP2K1 Catherine Snow Added phenotypes CFC3; CARDIOFACIOCUTANEOUS SYNDROME 3 for gene: MAP2K1
Publications for gene MAP2K1 were changed from 21396583; 23321623 to 16439621
Pigmentary skin disorders v0.27 MAD2L2 Catherine Snow Source Expert Review Amber was added to MAD2L2.
Added phenotypes FANCV; FANCONI ANEMIA, COMPLEMENTATION GROUP V for gene: MAD2L2
Publications for gene MAD2L2 were changed from to 27500492
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pigmentary skin disorders v0.27 LZTR1 Catherine Snow Added phenotypes NOONAN SYNDROME 10; NS2; NS10, NOONAN SYNDROME 2 for gene: LZTR1
Publications for gene LZTR1 were changed from 25795793; 29469822 to 29469822; 25795793
Pigmentary skin disorders v0.27 LYST Catherine Snow Added phenotypes CHEDIAK-HIGASHI SYNDROME; CHS for gene: LYST
Publications for gene LYST were changed from to 8896560
Pigmentary skin disorders v0.27 KRT5 Catherine Snow Mode of inheritance for gene KRT5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes DOWLING-DEGOS DISEASE 1; DDD1 for gene: KRT5
Publications for gene KRT5 were changed from to 16465624
Pigmentary skin disorders v0.27 KRT14 Catherine Snow Added phenotypes DPR; DERMATOPATHIA PIGMENTOSA RETICULARIS for gene: KRT14
Publications for gene KRT14 were changed from to 16960809
Pigmentary skin disorders v0.27 KRT10 Catherine Snow Added phenotypes CRIE; ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR for gene: KRT10
Publications for gene KRT10 were changed from to 7508181
Pigmentary skin disorders v0.27 KRAS Catherine Snow Mode of inheritance for gene KRAS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 for gene: KRAS
Publications for gene KRAS were changed from to 16474404; 19396835; 17468812
Pigmentary skin disorders v0.27 KITLG Catherine Snow Added phenotypes HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH for gene: KITLG
Publications for gene KITLG were changed from to 21368769
Pigmentary skin disorders v0.27 KIT Catherine Snow Added phenotypes PBT; MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT for gene: KIT
Publications for gene KIT were changed from to 9990072; 1370874
Pigmentary skin disorders v0.27 HRAS Catherine Snow Added phenotypes CSTLO; COSTELLO SYNDROME for gene: HRAS
Publications for gene HRAS were changed from to 16170316
Pigmentary skin disorders v0.27 HPS1 Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 1; HPS1 for gene: HPS1
Publications for gene HPS1 were changed from to 9497254
Pigmentary skin disorders v0.27 GPNMB Catherine Snow Added phenotypes AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 for gene: GPNMB
Publications for gene GPNMB were changed from to 29336782
Pigmentary skin disorders v0.27 GNAS Catherine Snow Source Expert Review Red was added to GNAS.
Added phenotypes McCune-Albright syndrome for gene: GNAS
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pigmentary skin disorders v0.27 GNAQ Catherine Snow Source Expert Review Red was added to GNAQ.
Added phenotypes Sturge Weber syndrome; Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNAQ
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pigmentary skin disorders v0.27 GNA11 Catherine Snow Source Expert Review Red was added to GNA11.
Added phenotypes Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNA11
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pigmentary skin disorders v0.27 GJB4 Catherine Snow Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 for gene: GJB4
Publications for gene GJB4 were changed from to 12648223
Pigmentary skin disorders v0.27 GJB3 Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 for gene: GJB3
Publications for gene GJB3 were changed from to 9843209
Pigmentary skin disorders v0.27 GJA1 Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 for gene: GJA1
Publications for gene GJA1 were changed from to 25398053
Pigmentary skin disorders v0.27 GALNT3 Catherine Snow Added phenotypes HFTC1; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 for gene: GALNT3
Publications for gene GALNT3 were changed from to 15133511
Pigmentary skin disorders v0.27 FGF23 Catherine Snow Added phenotypes ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; HFTC2 for gene: FGF23
Publications for gene FGF23 were changed from to 11062477; 15590700
Pigmentary skin disorders v0.27 FANCM Catherine Snow Source Expert Review Red was added to FANCM.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Pigmentary skin disorders v0.27 FANCL Catherine Snow Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL for gene: FANCL
Publications for gene FANCL were changed from to 25754594; 12973351; 19405097
Pigmentary skin disorders v0.27 FANCI Catherine Snow Added phenotypes FANCI; FANCONI ANEMIA, COMPLEMENTATION GROUP I for gene: FANCI
Publications for gene FANCI were changed from to 17452773
Pigmentary skin disorders v0.27 FANCG Catherine Snow Added phenotypes FANCG; FANCONI ANEMIA, COMPLEMENTATION GROUP G for gene: FANCG
Publications for gene FANCG were changed from to 9806548
Pigmentary skin disorders v0.27 FANCF Catherine Snow Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF for gene: FANCF
Publications for gene FANCF were changed from to 10615118
Pigmentary skin disorders v0.27 FANCE Catherine Snow Added phenotypes FANCE; FANCONI ANEMIA, COMPLEMENTATION GROUP E for gene: FANCE
Publications for gene FANCE were changed from to 11001585
Pigmentary skin disorders v0.27 FANCD2 Catherine Snow Added phenotypes FANCD2; FANCONI ANEMIA, COMPLEMENTATION GROUP D2 for gene: FANCD2
Publications for gene FANCD2 were changed from to 11239453
Pigmentary skin disorders v0.27 FANCC Catherine Snow Added phenotypes FANCC; FANCONI ANEMIA, COMPLEMENTATION GROUP C for gene: FANCC
Publications for gene FANCC were changed from to 8348157
Pigmentary skin disorders v0.27 FANCB Catherine Snow Added phenotypes FANCB; FANCONI ANEMIA, COMPLEMENTATION GROUP B for gene: FANCB
Publications for gene FANCB were changed from to 15502827
Pigmentary skin disorders v0.27 FANCA Catherine Snow Added phenotypes FANCA; FANCONI ANEMIA, COMPLEMENTATION GROUP A for gene: FANCA
Publications for gene FANCA were changed from to 8896564
Pigmentary skin disorders v0.27 FAM111B Catherine Snow Added phenotypes POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP for gene: FAM111B
Publications for gene FAM111B were changed from to 24268661
Pigmentary skin disorders v0.27 ERCC4 Catherine Snow Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF for gene: ERCC4
Publications for gene ERCC4 were changed from to 8797827
Pigmentary skin disorders v0.27 ENPP1 Catherine Snow Mode of inheritance for gene ENPP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes COLED; COLE DISEASE for gene: ENPP1
Publications for gene ENPP1 were changed from to 24075184
Pigmentary skin disorders v0.27 EDNRB Catherine Snow Added phenotypes WS4A; WAARDENBURG SYNDROME, TYPE 4A for gene: EDNRB
Publications for gene EDNRB were changed from to 8634719; 10528251
Pigmentary skin disorders v0.27 EDN3 Catherine Snow Added phenotypes WAARDENBURG SYNDROME, TYPE 4B; WS4B for gene: EDN3
Publications for gene EDN3 were changed from to 8630503; 8630502
Pigmentary skin disorders v0.27 DKC1 Catherine Snow Added phenotypes DKCX; DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1
Publications for gene DKC1 were changed from to 9590285
Pigmentary skin disorders v0.27 CIB1 Catherine Snow Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 for gene: CIB1
Publications for gene CIB1 were changed from to 30068544
Pigmentary skin disorders v0.27 CDKN2A Catherine Snow Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 for gene: CDKN2A
Publications for gene CDKN2A were changed from to 20132244
Pigmentary skin disorders v0.27 CDK4 Catherine Snow Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 for gene: CDK4
Publications for gene CDK4 were changed from to 15880589; 8528263
Pigmentary skin disorders v0.27 CBL Catherine Snow Added phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL for gene: CBL
Publications for gene CBL were changed from to 20619386
Pigmentary skin disorders v0.27 BRIP1 Catherine Snow Added phenotypes FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J for gene: BRIP1
Publications for gene BRIP1 were changed from to 16116424
Pigmentary skin disorders v0.27 BRCA2 Catherine Snow Added phenotypes FANCD1; FANCONI ANEMIA, COMPLEMENTATION GROUP D1 for gene: BRCA2
Publications for gene BRCA2 were changed from to 12065746
Pigmentary skin disorders v0.27 BRCA1 Catherine Snow Added phenotypes FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S for gene: BRCA1
Publications for gene BRCA1 were changed from to 29712865
Pigmentary skin disorders v0.27 BRAF Catherine Snow Added phenotypes CFC1; LEOPARD SYNDROME 3; LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1 for gene: BRAF
Publications for gene BRAF were changed from to 16474404; 19206169
Pigmentary skin disorders v0.27 BAP1 Catherine Snow Added phenotypes TPDS; TUMOR PREDISPOSITION SYNDROME for gene: BAP1
Publications for gene BAP1 were changed from to 21874003
Pigmentary skin disorders v0.27 ARSE Catherine Snow Added phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 for gene: ARSE
Publications for gene ARSE were changed from to 7720070
Pigmentary skin disorders v0.27 AP3B1 Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 2; HPS2 for gene: AP3B1
Publications for gene AP3B1 were changed from to 10024875; 14566336
Pigmentary skin disorders v0.27 ADAR Catherine Snow Added phenotypes DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; AGS6 for gene: ADAR
Publications for gene ADAR were changed from to 12916015; 23001123
Pigmentary skin disorders v0.27 ADAM10 Catherine Snow Added phenotypes Reticulate acropigmentation of Kitamura for gene: ADAM10
Publications for gene ADAM10 were changed from to 23666529
Pigmentary skin disorders v0.27 ABCD4 Catherine Snow Source Expert Review Amber was added to ABCD4.
Added phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4
Publications for gene ABCD4 were changed from to 25234635
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pigmentary skin disorders v0.27 ABCB6 Catherine Snow Added phenotypes DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 for gene: ABCB6
Publications for gene ABCB6 were changed from to 23519333
Pigmentary skin disorders v0.26 SNAI2 Celia Moss reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.425 CYCS Sarah Leigh reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pigmentary skin disorders v0.25 MLPH Tom Cullup reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3, 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 IL31RA Tom Cullup reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Amyloidosis, primary localized cutaneous, 2, 613955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders v0.25 XRCC2 Tom Cullup reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22232082; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP U, FANCU; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 WRAP53 Tom Cullup reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, DKCB3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 USB1 Tom Cullup reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004881; Phenotypes: POIKILODERMA WITH NEUTROPENIA, PN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 UBE2T Tom Cullup reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, FANCT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345097; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE III, OCA3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TYR Tom Cullup reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18326704; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IA, OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB, OCA1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TSC2 Tom Cullup reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12111193; Phenotypes: TUBEROUS SCLEROSIS 2, TSC2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 TSC1 Tom Cullup reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10227394; Phenotypes: TUBEROUS SCLEROSIS 1, TSC1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 TMC8 Tom Cullup reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2, EV2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TMC6 Tom Cullup reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1, EV1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TINF2 Tom Cullup reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230, 21477109; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DKCA3, REVESZ SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 TERT Tom Cullup reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 17785587, 18460650; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED, DKCB4, INCLUDED; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 TERC Tom Cullup reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 11574891; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DKCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 STK11 Tom Cullup reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 9425897; Phenotypes: PEUTZ-JEGHERS SYNDROME, PJS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SPRED1 Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776; Phenotypes: LEGIUS SYNDROME, LGSS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SOX18 Tom Cullup reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 12740761; Phenotypes: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HLTRS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SOX10 Tom Cullup reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 9462749, 21965087, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, PCWH, WAARDENBURG SYNDROME, TYPE 4C, WS4C, WAARDENBURG SYNDROME, TYPE 2E, WS2E; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SOS2 Tom Cullup reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25795793; Phenotypes: NOONAN SYNDROME 9, NS9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders v0.25 SOS1 Tom Cullup reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17143285; Phenotypes: NOONAN SYNDROME 4, NS4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SNAI2 Tom Cullup reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SLX4 Tom Cullup reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240277; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SLC45A2 Tom Cullup reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14722913; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IV, OCA4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SLC29A3 Tom Cullup reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940313; Phenotypes: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SLC24A5 Tom Cullup reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23364476; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, OCA6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 SHOC2 Tom Cullup reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19684605; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1, NSLH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SASH1 Tom Cullup reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27659786; Phenotypes: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1, DUH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 SAMD9 Tom Cullup reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960814, 27182967; Phenotypes: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL, NFTC, MIRAGE SYNDROME, MIRAGE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 RIT1 Tom Cullup reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, NS8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 RECQL4 Tom Cullup reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10319867, 12952869; Phenotypes: RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2, RTS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 RAF1 Tom Cullup reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603483; Phenotypes: LEOPARD SYNDROME 2, LPRD2, NOONAN SYNDROME 5, NS5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 RAD51C Tom Cullup reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP O, FANCO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 RAB27A Tom Cullup reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835631; Phenotypes: GRISCELLI SYNDROME, TYPE 2, GS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 PTPN11 Tom Cullup reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704759, 15389709; Phenotypes: LEOPARD SYNDROME 1, LPRD1, NOONAN SYNDROME 1, NS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PTEN Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9140396; Phenotypes: COWDEN SYNDROME 1, CWS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PSENEN Tom Cullup reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, ACNINV2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PRKAR1A Tom Cullup reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10973256, 12213893; Phenotypes: CARNEY COMPLEX, TYPE 1, CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PPNAD1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PPP1CB Tom Cullup reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27264673; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2, NSLH2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders v0.25 PORCN Tom Cullup reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, FDH; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pigmentary skin disorders v0.25 POGLUT1 Tom Cullup reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24387993; Phenotypes: DOWLING-DEGOS DISEASE 4, DDD4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 POFUT1 Tom Cullup reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23684010; Phenotypes: DOWLING-DEGOS DISEASE 2, DDD2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PMS2 Tom Cullup reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10763829; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22729224; Phenotypes: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, MCAP; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 PAX3 Tom Cullup reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8533800, 8447316; Phenotypes: WAARDENBURG SYNDROME, TYPE 1, WS1, WAARDENBURG SYNDROME, TYPE 3, WS3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 PALB2 Tom Cullup reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 OSMR Tom Cullup reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179886; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, PLCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 OCA2 Tom Cullup reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8302318; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE II, OCA2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 NRAS Tom Cullup reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19966803; Phenotypes: NOONAN SYNDROME 6, NS6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 NF2 Tom Cullup reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7913580; Phenotypes: NEUROFIBROMATOSIS, TYPE II, NF2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 NF1 Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9003501; Phenotypes: NEUROFIBROMATOSIS, TYPE I, NF1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 MYO5A Tom Cullup reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207796; Phenotypes: GRISCELLI SYNDROME, TYPE 1, GS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MTOR Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27830187; Phenotypes: SMITH-KINGSMORE SYNDROME, SKS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 MSH6 Tom Cullup reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16283678; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MSH2 Tom Cullup reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16372347; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MLH1 Tom Cullup reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17440981; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MITF Tom Cullup reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061, 7874167; Phenotypes: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, COMMAD, WAARDENBURG SYNDROME, TYPE 2A, WS2A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MC1R Tom Cullup reviewed gene: MC1R: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Susceptibility to melanoma, Susceptibility to congenital melanocytic naevi, Pigmentation, Susceptibility to facial pigmented spots; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 MAP2K2 Tom Cullup reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 4, 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 MAP2K1 Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16439621; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 3, CFC3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 MAD2L2 Tom Cullup reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27500492; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP V, FANCV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 LZTR1 Tom Cullup reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29469822, 25795793; Phenotypes: NOONAN SYNDROME 10, NS10, NOONAN SYNDROME 2, NS2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 LYST Tom Cullup reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896560; Phenotypes: CHEDIAK-HIGASHI SYNDROME, CHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 KRT5 Tom Cullup reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16465624; Phenotypes: DOWLING-DEGOS DISEASE 1, DDD1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 KRT14 Tom Cullup reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960809; Phenotypes: DERMATOPATHIA PIGMENTOSA RETICULARIS, DPR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 KRT10 Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 7508181; Phenotypes: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR, CRIE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 KRAS Tom Cullup reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16474404, 17468812, 19396835; Phenotypes: NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2, CFC2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 KITLG Tom Cullup reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 21368769; Phenotypes: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE, FPHH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 KIT Tom Cullup reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1370874, 9990072; Phenotypes: MASTOCYTOSIS, CUTANEOUS, MASTC, PIEBALD TRAIT, PBT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 HRAS Tom Cullup reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16170316; Phenotypes: COSTELLO SYNDROME, CSTLO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 HPS1 Tom Cullup reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497254; Phenotypes: HERMANSKY-PUDLAK SYNDROME 1, HPS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 GPNMB Tom Cullup reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29336782; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 GNAS Tom Cullup reviewed gene: GNAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McCune-Albright syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders v0.25 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis, Sturge Weber syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 GNA11 Tom Cullup reviewed gene: GNA11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 GJB4 Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2, EKVP2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 GJB3 Tom Cullup reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9843209; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1, EKVP1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 GJA1 Tom Cullup reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 GALNT3 Tom Cullup reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1, HFTC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FGF23 Tom Cullup reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062477, 15590700; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2, HFTC2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCM Tom Cullup reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCL Tom Cullup reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12973351, 19405097, 25754594; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCI Tom Cullup reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17452773; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP I, FANCI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCG Tom Cullup reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 9806548; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, FANCG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCF Tom Cullup reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615118; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, FANCF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCE Tom Cullup reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCD2 Tom Cullup reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FANCD2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCC Tom Cullup reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8348157; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, FANCC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FANCB Tom Cullup reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15502827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP B, FANCB; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pigmentary skin disorders v0.25 FANCA Tom Cullup reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 FAM111B Tom Cullup reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268661; Phenotypes: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, POIKTMP; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 ERCC4 Tom Cullup reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 8797827; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 ENPP1 Tom Cullup reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24075184; Phenotypes: COLE DISEASE, COLED; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 EDNRB Tom Cullup reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634719, 10528251; Phenotypes: WAARDENBURG SYNDROME, TYPE 4A, WS4A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 EDN3 Tom Cullup reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630502, 8630503; Phenotypes: WAARDENBURG SYNDROME, TYPE 4B, WS4B; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 DKC1 Tom Cullup reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590285; Phenotypes: DYSKERATOSIS CONGENITA, X-LINKED, DKCX; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pigmentary skin disorders v0.25 CIB1 Tom Cullup reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30068544; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3, EV3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 CDKN2A Tom Cullup reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20132244; Phenotypes: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2, CMM2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 CDK4 Tom Cullup reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15880589, 8528263; Phenotypes: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3, CMM3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 CBL Tom Cullup reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NSLL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 BRIP1 Tom Cullup reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, FANCJ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 BRCA2 Tom Cullup reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12065746; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FANCD1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 BRCA1 Tom Cullup reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP S, FANCS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 BRAF Tom Cullup reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 16474404, 19206169; Phenotypes: LEOPARD SYNDROME 3, LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1, CFC1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 BAP1 Tom Cullup reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21874003; Phenotypes: TUMOR PREDISPOSITION SYNDROME, TPDS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 ARSE Tom Cullup reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pigmentary skin disorders v0.25 AP3B1 Tom Cullup reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10024875, 14566336; Phenotypes: HERMANSKY-PUDLAK SYNDROME 2, HPS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 ADAR Tom Cullup reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12916015, 23001123; Phenotypes: DYSCHROMATOSIS SYMMETRICA HEREDITARIA, DSH, AICARDI-GOUTIERES SYNDROME 6, AGS6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 ADAM10 Tom Cullup reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23666529; Phenotypes: Reticulate acropigmentation of Kitamura; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.25 ABCD4 Tom Cullup reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 25234635; Phenotypes: Progressive hyperpigmentation due to VitB12 metabolism defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.25 ABCB6 Tom Cullup reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519333; Phenotypes: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v1.425 PDK3 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
The phenotype of ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905, is not relevant to the "Inborn errors of metabolism" panel, which is why it is rated Amber (clinical opinion of Helen Britain, GEL Clinical Fellow).
Pigmentary skin disorders v0.24 SNAI2 Catherine Snow Classified gene: SNAI2 as Amber List (moderate evidence)
Pigmentary skin disorders v0.24 SNAI2 Catherine Snow Gene: snai2 has been classified as Amber List (Moderate Evidence).
Pigmentary skin disorders v0.23 SNAI2 Catherine Snow reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
IUGR and IGF abnormalities v1.30 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
IUGR and IGF abnormalities v1.30 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.2 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.1 Louise Daugherty Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Skeletal dysplasia v1.292 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Skeletal dysplasia v1.292 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb disorders v2.0 SHOX Eleanor Williams commented on gene: SHOX
Radial dysplasia v1.7 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
Radial dysplasia v1.7 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
DDG2P v1.179 SHOX Rebecca Foulger commented on gene: SHOX: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
Paediatric disorders - additional genes v0.46 GDF1 Rebecca Foulger Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark); Congenital heart defects, multiple types, 6 to Right atrial isomerism (Ivemark), 208530; Congenital heart defects, multiple types, 6, 613854
Paediatric disorders - additional genes v0.45 GDF1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic, to match suggested MOI in review, and MOI on 'Laterality disorders and isomerism' panel, version 1.0 (panel 549). GDF1 has AD inheritance for Congenital heart defects, multiple types, 6 (MIM:613854) and AR inheritance for Right atrial isomerism (Ivemark) (MIM:208530).
Paediatric disorders - additional genes v0.45 GDF1 Rebecca Foulger Mode of inheritance for gene: GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric disorders - additional genes v0.44 MYH7 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic to match suggested MOI in review, and MOI of MYH7 on 'Cardiomyopathies - including childhood onset' panel (panel 749) version 1.0. Myopathy, myosin storage, autosomal recessive (MIM:255160) has AR inheritance in OMIM.
Paediatric disorders - additional genes v0.44 MYH7 Rebecca Foulger Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.373 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512
Fetal anomalies v0.372 CNOT1 Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to Holoprosencephaly 12, with or without pancreatic agenesis, 618500
Rare genetic inflammatory skin disorders v0.20 PSENEN Catherine Snow Classified gene: PSENEN as Green List (high evidence)
Rare genetic inflammatory skin disorders v0.20 PSENEN Catherine Snow Gene: psenen has been classified as Green List (High Evidence).
Rare genetic inflammatory skin disorders v0.19 PSENEN Catherine Snow gene: PSENEN was added
gene: PSENEN was added to Rare genetic inflammatory skin disorders. Sources: Expert list
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSENEN were set to 20929727
Phenotypes for gene: PSENEN were set to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2
Review for gene: PSENEN was set to GREEN
Added comment: PSENEN added to panel following advice from Tom Cullup @ GOSH
Sources: Expert list
Vascular skin disorders v0.38 GNAQ Catherine Snow Classified gene: GNAQ as No list
Vascular skin disorders v0.38 GNAQ Catherine Snow Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Vascular skin disorders v0.38 GNAQ Catherine Snow Gene: gnaq has been removed from the panel.
Vascular skin disorders v0.37 GNA11 Catherine Snow Classified gene: GNA11 as No list
Vascular skin disorders v0.37 GNA11 Catherine Snow Added comment: Comment on list classification: Following advice from Tom Cullup of GOSH "test on this not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel."
Vascular skin disorders v0.37 GNA11 Catherine Snow Gene: gna11 has been removed from the panel.
Vascular skin disorders v0.36 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.36 PPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.36 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.36 PPOX Catherine Snow Classified gene: PPOX as Red List (low evidence)
Vascular skin disorders v0.36 PPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.36 PPOX Catherine Snow Gene: ppox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.35 CPOX Catherine Snow Classified gene: CPOX as Red List (low evidence)
Vascular skin disorders v0.35 CPOX Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.35 CPOX Catherine Snow Gene: cpox has been classified as Red List (Low Evidence).
Vascular skin disorders v0.34 CPO Catherine Snow Classified gene: CPO as Red List (low evidence)
Vascular skin disorders v0.34 CPO Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup as "porphyria testing covered elsewhere in test directory."
Vascular skin disorders v0.34 CPO Catherine Snow Gene: cpo has been classified as Red List (Low Evidence).
Vascular skin disorders v0.33 AP3B1 Catherine Snow Classified gene: AP3B1 as Red List (low evidence)
Vascular skin disorders v0.33 AP3B1 Catherine Snow Added comment: Comment on list classification: Rating as Red as advised by Tom Cullup @ GOSH as "Hermansky-Pudlak syndrome is covered elsewhere in test directory".
Vascular skin disorders v0.33 AP3B1 Catherine Snow Gene: ap3b1 has been classified as Red List (Low Evidence).
Vascular skin disorders v0.32 AP3B1 Catherine Snow Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2
Vascular skin disorders v0.31 FECH Catherine Snow Publications for gene: FECH were set to
Vascular skin disorders v0.30 FECH Catherine Snow Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1
Vascular skin disorders v0.29 ATR Catherine Snow Publications for gene: ATR were set to
Vascular skin disorders v0.28 KDR Catherine Snow Publications for gene: KDR were set to
Vascular skin disorders v0.27 KDR Catherine Snow Classified gene: KDR as Red List (low evidence)
Vascular skin disorders v0.27 KDR Catherine Snow Gene: kdr has been classified as Red List (Low Evidence).
Vascular skin disorders v0.26 KDR Catherine Snow changed review comment from: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.; to: Comment on list classification: KDR subsequentaly rated as Red by Tom Cullup as "Susceptibility, rather than diagnostically causative." OMIM entry has variants only reported in two individuals, one germline one somatic.
Skeletal dysplasia v1.291 Eleanor Williams List of related panels changed from Unexplained skeletal dysplasia; Skeletal dysplasia to Unexplained skeletal dysplasia; Skeletal dysplasia; R104
Skeletal dysplasia v1.290 WRN Eleanor Williams changed review comment from: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature.; to: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature. But need confirmation that this is considered strong enough a skeletal dysplasia phenotype before promoting to green.
Skeletal dysplasia v1.290 WRN Eleanor Williams Classified gene: WRN as Red List (low evidence)
Skeletal dysplasia v1.290 WRN Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature.
Skeletal dysplasia v1.290 WRN Eleanor Williams Gene: wrn has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.289 TGDS Eleanor Williams Classified gene: TGDS as Red List (low evidence)
Skeletal dysplasia v1.289 TGDS Eleanor Williams Added comment: Comment on list classification: Leaving red for now. Associated with Catel-Manzke syndrome. Mainly limb phenotype.
Skeletal dysplasia v1.289 TGDS Eleanor Williams Gene: tgds has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.288 OAT Eleanor Williams Classified gene: OAT as Red List (low evidence)
Skeletal dysplasia v1.288 OAT Eleanor Williams Added comment: Comment on list classification: Leaving red for now as no skeletal involvement found in publications found to date.
Skeletal dysplasia v1.288 OAT Eleanor Williams Gene: oat has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.287 IDH2 Eleanor Williams Classified gene: IDH2 as Red List (low evidence)
Skeletal dysplasia v1.287 IDH2 Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with D-2-hydroxyglutaric aciduria 2 in OMIM but no skeletal phenotype. Also associated with somatic mosaic variants in patients with multiple enchondromas (Ollier disease) which can result in a skeletal phenotype.
Skeletal dysplasia v1.287 IDH2 Eleanor Williams Gene: idh2 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.286 EP300 Eleanor Williams Classified gene: EP300 as Red List (low evidence)
Skeletal dysplasia v1.286 EP300 Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Rubinstein-Taybi syndrome. Mainly minor digital phenotype
Skeletal dysplasia v1.286 EP300 Eleanor Williams Gene: ep300 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.285 CKAP2L Eleanor Williams Classified gene: CKAP2L as Red List (low evidence)
Skeletal dysplasia v1.285 CKAP2L Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Filippi syndrome in OMIM. Mainly a digital phenotype.
Skeletal dysplasia v1.285 CKAP2L Eleanor Williams Gene: ckap2l has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.284 ARID1B Eleanor Williams Classified gene: ARID1B as Red List (low evidence)
Skeletal dysplasia v1.284 ARID1B Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Coffin-Siris syndrome 1 in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails. Not classical for a skeletal panel.
Skeletal dysplasia v1.284 ARID1B Eleanor Williams Gene: arid1b has been classified as Red List (Low Evidence).
Hereditary ataxia and cerebellar anomalies, childhood onset v6.1 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Ataxia and cerebellar anomalies - childhood onset v2.0 Louise Daugherty promoted panel to version 2.0
Skeletal dysplasia v1.283 AKT1 Eleanor Williams Classified gene: AKT1 as Red List (low evidence)
Skeletal dysplasia v1.283 AKT1 Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Proteus syndrome, somatic in OMIM, more consistent with segmental overgrowth, a mosaic disorder
Skeletal dysplasia v1.283 AKT1 Eleanor Williams Gene: akt1 has been classified as Red List (Low Evidence).
Neurological ciliopathies v1.0 Louise Daugherty promoted panel to version 1.0
Neurological ciliopathies v0.10 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Skeletal dysplasia v1.282 ABL1 Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence)
Skeletal dysplasia v1.282 ABL1 Eleanor Williams Added comment: Comment on list classification: Leaving this gene as amber just now. Question as to whether this is considered a skeletal dysplasia. The broader skeletal manifestations (scoliosis / pectus) are classically thought of as part of the Marfan / FTAAD spectrum rather than a skeletal dysplasia.
Skeletal dysplasia v1.282 ABL1 Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - childhood onset v1.9 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v2.0 Louise Daugherty promoted panel to version 2.0
Congenital disorders of glycosylation v1.36 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Neurological ciliopathies v0.9 Louise Daugherty Panel types changed to Component Of Super Panel
Ataxia and cerebellar anomalies - childhood onset v1.8 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Congenital disorders of glycosylation v1.34 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Cerebral malformation v5.1 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Neurological segmental overgrowth v1.0 Louise Daugherty promoted panel to version 1.0
Neurological segmental overgrowth v0.6 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Malformations of cortical development v2.1 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Malformations of cortical development v2.0 Louise Daugherty promoted panel to version 2.0
Malformations of cortical development v1.172 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Skeletal dysplasia v1.281 DPAGT1 Eleanor Williams Classified gene: DPAGT1 as Green List (high evidence)
Skeletal dysplasia v1.281 DPAGT1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.
Skeletal dysplasia v1.281 DPAGT1 Eleanor Williams Gene: dpagt1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.280 DPAGT1 Eleanor Williams Publications for gene: DPAGT1 were set to 12872255; 22304930
Congenital disorders of glycosylation v1.33 DPAGT1 Eleanor Williams Publications for gene: DPAGT1 were set to 12872255; 22304930
Skeletal dysplasia v1.279 DPAGT1 Eleanor Williams gene: DPAGT1 was added
gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 12872255; 22304930
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Review for gene: DPAGT1 was set to GREEN
Added comment: Adding gene to the panel from suggestion from Rhoda Akilapa. Skeletal anomalies reported including Rocker bottom feet, Bell-shaped chest, Multiple contractures, campodactily in hands,
Dorsal kyphosis, valgum feet, articular hyperlaxity (PMID: 30653653)
Sources: Expert list
Skeletal dysplasia v1.278 B3GLCT Eleanor Williams Classified gene: B3GLCT as Green List (high evidence)
Skeletal dysplasia v1.278 B3GLCT Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.
Skeletal dysplasia v1.278 B3GLCT Eleanor Williams Gene: b3glct has been classified as Green List (High Evidence).
Skeletal dysplasia v1.277 B3GLCT Eleanor Williams gene: B3GLCT was added
gene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 16909395; 23889335
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Review for gene: B3GLCT was set to GREEN
Added comment: Adding gene to the panel from suggestion from Rhoda Akilapa. Growth retardation, short stature, and brachydactyly reported.
Sources: Expert Review
Skeletal dysplasia v1.276 SLC35C1 Eleanor Williams Classified gene: SLC35C1 as Green List (high evidence)
Skeletal dysplasia v1.276 SLC35C1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.
Skeletal dysplasia v1.276 SLC35C1 Eleanor Williams Gene: slc35c1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.275 SLC35C1 Eleanor Williams gene: SLC35C1 was added
gene: SLC35C1 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 11326280; 12476046
Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Added comment: Adding gene to the panel from suggestion from Rhoda Akilapa. Dwarfism reported
Sources: Other
Leukodystrophy, adult onset v1.0 Louise Daugherty promoted panel to version 1.0
Leukodystrophy, adult onset v0.25 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Skeletal dysplasia v1.274 SLC34A1 Eleanor Williams Classified gene: SLC34A1 as Green List (high evidence)
Skeletal dysplasia v1.274 SLC34A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.274 SLC34A1 Eleanor Williams Gene: slc34a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.273 SLC34A1 Eleanor Williams gene: SLC34A1 was added
gene: SLC34A1 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC34A1 were set to 12324554; 9560283; 25050900
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
Review for gene: SLC34A1 was set to GREEN
Added comment: Adding genes that are green on the Hypophosphataemia or rickets panel
Sources: Other
Skeletal dysplasia v1.272 CYP2R1 Eleanor Williams Classified gene: CYP2R1 as Green List (high evidence)
Skeletal dysplasia v1.272 CYP2R1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.272 CYP2R1 Eleanor Williams Gene: cyp2r1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.271 CYP2R1 Eleanor Williams gene: CYP2R1 was added
gene: CYP2R1 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081
Review for gene: CYP2R1 was set to GREEN
Added comment: Adding genes that are green on the Hypophosphataemia or rickets panel
Sources: Other
Skeletal dysplasia v1.270 VDR Eleanor Williams Classified gene: VDR as Green List (high evidence)
Skeletal dysplasia v1.270 VDR Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Hypophosphataemia or rickets panel (panel ID:482, version 2.1) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty
Skeletal dysplasia v1.270 VDR Eleanor Williams Gene: vdr has been classified as Green List (High Evidence).
Skeletal dysplasia v1.269 VDR Eleanor Williams Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, 277440
Neurodegenerative disorders, adult onset v2.0 Louise Daugherty promoted panel to version 2.0
Skeletal dysplasia v1.268 VDR Eleanor Williams Mode of inheritance for gene: VDR was changed from to BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.118 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Skeletal dysplasia v1.267 FAM46A Eleanor Williams Classified gene: FAM46A as Green List (high evidence)
Skeletal dysplasia v1.267 FAM46A Eleanor Williams Gene: fam46a has been classified as Green List (High Evidence).
Skeletal dysplasia v1.266 TAPT1 Eleanor Williams Classified gene: TAPT1 as Green List (high evidence)
Skeletal dysplasia v1.266 TAPT1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.266 TAPT1 Eleanor Williams Gene: tapt1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.265 TAPT1 Eleanor Williams Publications for gene: TAPT1 were set to PMID:26365339
Skeletal dysplasia v1.264 SPARC Eleanor Williams Classified gene: SPARC as Green List (high evidence)
Skeletal dysplasia v1.264 SPARC Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.264 SPARC Eleanor Williams Gene: sparc has been classified as Green List (High Evidence).
Skeletal dysplasia v1.263 SPARC Eleanor Williams Publications for gene: SPARC were set to
Skeletal dysplasia v1.262 SP7 Eleanor Williams Classified gene: SP7 as Green List (high evidence)
Skeletal dysplasia v1.262 SP7 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.262 SP7 Eleanor Williams Gene: sp7 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.261 NBAS Eleanor Williams Classified gene: NBAS as Green List (high evidence)
Skeletal dysplasia v1.261 NBAS Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.261 NBAS Eleanor Williams Gene: nbas has been classified as Green List (High Evidence).
Skeletal dysplasia v1.260 NBAS Eleanor Williams Publications for gene: NBAS were set to
Skeletal dysplasia v1.259 NBAS Eleanor Williams Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.258 FAM46A Eleanor Williams Classified gene: FAM46A as Red List (low evidence)
Skeletal dysplasia v1.258 FAM46A Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.258 FAM46A Eleanor Williams Gene: fam46a has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.257 FAM46A Eleanor Williams gene: FAM46A was added
gene: FAM46A was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM46A were set to 29358272
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII 617952
Review for gene: FAM46A was set to GREEN
Added comment: Adding gene to panel as it is green on the Osteogenesis imperfecta panel.
Sources: Other
Skeletal dysplasia v1.256 CREB3L1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.; to: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.256 DSPP Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.; to: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.256 DSPP Eleanor Williams Classified gene: DSPP as Green List (high evidence)
Skeletal dysplasia v1.256 DSPP Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.
Skeletal dysplasia v1.256 DSPP Eleanor Williams Gene: dspp has been classified as Green List (High Evidence).
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Classified gene: CREB3L1 as Green List (high evidence)
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Lyn Chitty.
Skeletal dysplasia v1.255 CREB3L1 Eleanor Williams Gene: creb3l1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v2.0 Louise Daugherty promoted panel to version 2.0
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber based on the expert reviews and also based on the gene rating on Dilated cardiomyopathy - adult and teen (version 1.0) which has been signed off by the GMS cardiology specialist group.
Dilated Cardiomyopathy and conduction defects v1.65 FKTN Ivone Leong Gene: fktn has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.71 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 AKT2 Catherine Snow Classified gene: AKT2 as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 AKT2 Catherine Snow Gene: akt2 has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.93 AKT2 Catherine Snow gene: AKT2 was added
gene: AKT2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert Review
missense tags were added to gene: AKT2.
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 28502730
Phenotypes for gene: AKT2 were set to Segmental overgrowth disorders
Added comment: Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Green, although admitted "it would be borderline as a mosaic disorder and a single variant".
Sources: Expert Review
Segmental overgrowth disorders - Deep sequencing v1.10 AKT2 Catherine Snow Publications for gene: AKT2 were set to
Severe microcephaly v2.0 Louise Daugherty promoted panel to version 2.0
Severe microcephaly v1.79 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Skeletal muscle channelopathy v1.0 Louise Daugherty promoted panel to version 1.0
Segmental overgrowth disorders - Deep sequencing v1.9 AKT2 Catherine Snow Classified gene: AKT2 as Amber List (moderate evidence)
Segmental overgrowth disorders - Deep sequencing v1.9 AKT2 Catherine Snow Added comment: Comment on list classification: After consultation with Genomics England clinical team who identified AKT2 in the review paper PMID:28502730 – "4 cases summarised, they all have the same missense variant, and I can’t see if any work has been done re mechanism e.g. gain of function". Advised rating as Amber.
Segmental overgrowth disorders - Deep sequencing v1.9 AKT2 Catherine Snow Gene: akt2 has been classified as Amber List (Moderate Evidence).
Skeletal muscle channelopathy v0.30 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Congenital muscular dystrophy v2.0 Louise Daugherty promoted panel to version 2.0
Congenital muscular dystrophy v1.78 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Intellectual disability v3.0 SUZ12 Konstantinos Varvagiannis changed review comment from: ID can be a feature in individuals heterozygous for SUZ12 pathogenic variants. 13 affected individuals (from 12 families) have been reported:

[1] PMID 28229514 (Imagawa et al, 2017) : 1 individual
[2] PMID 30019515 (Imagawa et al, 2018) : 2 further unrelated subjects
[3] PMID 31736240 (Cyrus et al, 2019) : 10 additional subjects (from 9 families)

Reviewed by Cyrus et al, features observed in more than half of the (13) affected individuals included prenatal and/or postnatal overgrowth (in some only prenatal, others only postnatal, others did not manifest overgrowth at all), some suggestive facial features (eg. prominent forehead, hypertelorism, downslanting palpebral fissures, round face, broad/low nasal bridge), DD and ID (the latter in 7/13, in most cases mild), advanced bone age, musculoskeletal abnormalities and cryptorchidism. Less frequent features included brain MRI abnormalities (eg. CC hypoplasia/agenesis, etc.), umbilical hernias, respiratory abnormalities, cardiac anomalies (in one).

All were diagnosed with WES/WGS/panel testing, with few having additional findings upon this or prior testing (eg. CNVs/SNVs).

SUZ12 encodes one of the 4 core proteins of the PRC2 complex (the 3 other being encoded by EZH1/2, EED and RBBP4/7). The complex has a methyltransferase activity, catalyzing addition of up to 3 methyl groups on histone 3 at lysine residue 27 (H3K27), leading to chromatin compaction and further to gene silencing.

Mutations in genes encoding 2 other core components of the PRC2 complex - namely EZH2 and EED - cause Weaver and Cohen-Gibson syndrome with overlapping phenotype incl. overgrowth, advanced bone age, craniofacial features and DD/ID.

The SET domain of EZH1/2 and EED as well as the VEFS domain of SUZ12 are contributing to the catalytic activity.

SUZ12 variants reported to date include missense and pLoF variants (frameshift, nonsense, splice site ones) predicted to disrupt or eliminate the VEFS-box domain [almost all missense within this domain with the exception of one proximal to it (Arg535Gln) / pLoF causing truncation prior or within this domain (Arg654Ter might be an exception)] {NP_056170.2}.

Variants either occurred de novo or were inherited (~1/3), on some occasions from a mildly affected parent. Parental mosaicism has also been reported (eg. in ref1, and one or possibly two additional families in ref3).

Some preliminary assumptions on possible genotype-phenotype correlations (for overgrowth and ID related to missense/pLoF variants) are discussed in ref3.

SUZ12 is also be deleted in some patients with NF1 deletion (and a diagnosis of neurofibromatosis type 1). Deletion of SUZ12 has been proposed to contribute to the phenotype of these individuals (eg. overgrowth, cognitive development, facial features). [Discussed in ref1].

Functional studies have been carried out only in the first report (ref1) and demonstrated decreased trimethylation of H3K27 in the case of a missense variant. Overall a partial loss-of-function mechanism has been proposed for the variants.

Mouse models: A study by Pasini et al (PMID: 15385962) did not report phenotypic differences between wt and heterozygous Suz12 knockout mice (gene-trap vector) as for size, morphology and fertility. Total knockout resulted in embryonic lethality, significant growth retardation and several developmental defects. Loss of Suz12 was shown to result in absence of di- and tri-methylated H3K27 in the ko embryos. In another study cited (Miro et al - PMID: 19535498) heterozygous mice (replacement of exons 12-16 with a lacZ gene and neo cassette) displayed variable CNS defects with incomplete penetrance.

The role of the PRC2 complex and the phenotypes related to mutations in genes encoding its core components, are discussed in PMID: 31724824 (also by Cyrus et al, 2019).

SUZ12 is not associated with any phenotype in OMIM. In G2P it is included in the DD panel associated with Weaver-like overgrowth syndrome (disease confidence : confirmed). The gene is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
Sources: Literature; to: ID can be a feature in individuals heterozygous for SUZ12 pathogenic variants. 13 affected individuals (from 12 families) have been reported:

[1] PMID 28229514 (Imagawa et al, 2017) : 1 individual
[2] PMID 30019515 (Imagawa et al, 2018) : 2 further unrelated subjects
[3] PMID 31736240 (Cyrus et al, 2019) : 10 additional subjects (from 9 families)

Reviewed by Cyrus et al, features observed in more than half of the (13) affected individuals included prenatal and/or postnatal overgrowth (in some only prenatal, others only postnatal, others did not manifest overgrowth at all), some suggestive facial features (eg. prominent forehead, hypertelorism, downslanting palpebral fissures, round face, broad/low nasal bridge), DD and ID (the latter in 7/13, in most cases mild), advanced bone age, musculoskeletal abnormalities and cryptorchidism. Less frequent features included brain MRI abnormalities (eg. CC hypoplasia/agenesis, etc.), umbilical hernias, respiratory abnormalities, cardiac anomalies (in one).

All were diagnosed with WES/WGS/panel testing, with few having additional findings upon this or prior testing (eg. CNVs/SNVs).

SUZ12 encodes one of the 4 core proteins of the PRC2 complex (the 3 other being encoded by EZH1/2, EED and RBBP4/7). The complex has a methyltransferase activity, catalyzing addition of up to 3 methyl groups on histone 3 at lysine residue 27 (H3K27), leading to chromatin compaction and further to gene silencing.

Mutations in genes encoding 2 other core components of the PRC2 complex - namely EZH2 and EED - cause Weaver and Cohen-Gibson syndrome with overlapping phenotype incl. overgrowth, advanced bone age, craniofacial features and DD/ID.

The SET domain of EZH1/2 and EED as well as the VEFS domain of SUZ12 are contributing to the catalytic activity.

SUZ12 variants reported to date include missense and pLoF variants (frameshift, nonsense, splice site ones) predicted to disrupt or eliminate the VEFS-box domain [almost all missense within this domain with the exception of one proximal to it (Arg535Gln) / pLoF causing truncation prior or within this domain (Arg654Ter might be an exception)] {NP_056170.2}.

Variants either occurred de novo or were inherited (~1/3), on some occasions from a mildly affected parent. Parental mosaicism has also been reported (eg. in ref1, and one or possibly two additional families in ref3).

Some preliminary assumptions on possible genotype-phenotype correlations (for overgrowth and ID related to missense/pLoF variants) are discussed in ref3.

SUZ12 may also be deleted in some patients with NF1 deletion (and a diagnosis of neurofibromatosis type 1). Deletion of SUZ12 has been proposed to contribute to the phenotype of these individuals (eg. overgrowth, cognitive development, facial features). [Discussed in ref1].

Functional studies have been carried out only in the first report (ref1) and demonstrated decreased trimethylation of H3K27 in the case of a missense variant. Overall a partial loss-of-function mechanism has been proposed for the variants.

Mouse models: A study by Pasini et al (PMID: 15385962) did not report phenotypic differences between wt and heterozygous Suz12 knockout mice (gene-trap vector) as for size, morphology and fertility. Total knockout resulted in embryonic lethality, significant growth retardation and several developmental defects. Loss of Suz12 was shown to result in absence of di- and tri-methylated H3K27 in the ko embryos. In another study cited (Miro et al - PMID: 19535498) heterozygous mice (replacement of exons 12-16 with a lacZ gene and neo cassette) displayed variable CNS defects with incomplete penetrance.

The role of the PRC2 complex and the phenotypes related to mutations in genes encoding its core components, are discussed in PMID: 31724824 (also by Cyrus et al, 2019).

SUZ12 is not associated with any phenotype in OMIM. In G2P it is included in the DD panel associated with Weaver-like overgrowth syndrome (disease confidence : confirmed). The gene is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
Sources: Literature
Intellectual disability v3.0 SUZ12 Konstantinos Varvagiannis changed review comment from: ID can be a feature in individuals heterozygous for SUZ12 pathogenic variants. 13 affected individuals (from 12 families) have been reported:

[1] PMID 28229514 (Imagawa et al, 2017) : 1 individual
[2] PMID 30019515 (Imagawa et al, 2018) : 2 further unrelated subjects
[3] PMID 31736240 (Cyrus et al, 2019) : 10 newly diagnosed subjects (from 9 families)

Reviewed by Cyrus et al, features observed in more than half of the (13) affected individuals included prenatal and/or postnatal overgrowth (in some only prenatal, others only postnatal, others did not manifest overgrowth at all), some suggestive facial features (eg. prominent forehead, hypertelorism, downslanting palpebral fissures, round face, broad/low nasal bridge), DD and ID (the latter in 7/13, in most cases mild), advanced bone age, musculoskeletal abnormalities and cryptorchidism. Less frequent features included brain MRI abnormalities (eg. CC hypoplasia/agenesis, etc.), umbilical hernias, respiratory abnormalities, cardiac anomalies (in one).

All were diagnosed with WES/WGS/panel testing, with few having additional findings upon this or prior testing (eg. CNVs/SNVs).

SUZ12 encodes one of the 4 core proteins of the PRC2 complex (the 3 other being encoded by EZH1/2, EED and RBBP4/7). The complex has a methyltransferase activity, catalyzing addition of up to 3 methyl groups on histone 3 at lysine residue 27 (H3K27), leading to chromatin compaction and further to gene silencing.

Mutations in genes encoding 2 other core components of the PRC2 complex - namely EZH2 and EED - cause Weaver and Cohen-Gibson syndrome with overlapping phenotype incl. overgrowth, advanced bone age, craniofacial features and DD/ID.

The SET domain of EZH1/2 and EED as well as the VEFS domain of SUZ12 are contributing to the catalytic activity.

SUZ12 variants reported to date include missense and pLoF variants (frameshift, nonsense, splice site ones) predicted to disrupt or eliminate the VEFS-box domain [almost all missense within this domain with the exception of one proximal to it (Arg535Gln) / pLoF causing truncation prior or within this domain (Arg654Ter might be an exception)] {NP_056170.2}.

Variants either occurred de novo or were inherited (~1/3), on some occasions from a mildly affected parent. Parental mosaicism has also been reported (eg. in ref1, and one or possibly two additional families in ref3).

Some preliminary assumptions on possible genotype-phenotype correlations (for overgrowth and ID related to missense/pLoF variants) are discussed in ref3.

SUZ12 is also be deleted in some patients with NF1 deletion (and a diagnosis of neurofibromatosis type 1). Deletion of SUZ12 has been proposed to contribute to the phenotype of these individuals (eg. overgrowth, cognitive development, facial features). [Discussed in ref1].

Functional studies have been carried out only in the first report (ref1) and demonstrated decreased trimethylation of H3K27 in the case of a missense variant. Overall a partial loss-of-function mechanism has been proposed for the variants.

Mouse models: An study by Pasini et al (PMID: 15385962) did not report phenotypic differences between wt and heterozygous Suz12 knockout mice (gene-trap vector) as for size, morphology and fertility. Total knockout resulted in embryonic lethality, significant growth retardation and several developmental defects. Loss of Suz12 was shown to result in absence of di- and tri-methylated H3K27 in the ko embryos. In another study cited (Miro et al - PMID: 19535498) heterozygous mice (replacement of exons 12-16 with a lacZ gene and neo cassette) displayed variable CNS defects with incomplete penetrance.

The role of the PRC2 complex and the phenotypes related to mutations in genes encoding its core components, are discussed in PMID: 31724824 (also by Cyrus et al, 2019).

SUZ12 is not associated with any phenotype in OMIM. In G2P it is included in the DD panel associated with Weaver-like overgrowth syndrome (disease confidence : confirmed). The gene is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
Sources: Literature; to: ID can be a feature in individuals heterozygous for SUZ12 pathogenic variants. 13 affected individuals (from 12 families) have been reported:

[1] PMID 28229514 (Imagawa et al, 2017) : 1 individual
[2] PMID 30019515 (Imagawa et al, 2018) : 2 further unrelated subjects
[3] PMID 31736240 (Cyrus et al, 2019) : 10 additional subjects (from 9 families)

Reviewed by Cyrus et al, features observed in more than half of the (13) affected individuals included prenatal and/or postnatal overgrowth (in some only prenatal, others only postnatal, others did not manifest overgrowth at all), some suggestive facial features (eg. prominent forehead, hypertelorism, downslanting palpebral fissures, round face, broad/low nasal bridge), DD and ID (the latter in 7/13, in most cases mild), advanced bone age, musculoskeletal abnormalities and cryptorchidism. Less frequent features included brain MRI abnormalities (eg. CC hypoplasia/agenesis, etc.), umbilical hernias, respiratory abnormalities, cardiac anomalies (in one).

All were diagnosed with WES/WGS/panel testing, with few having additional findings upon this or prior testing (eg. CNVs/SNVs).

SUZ12 encodes one of the 4 core proteins of the PRC2 complex (the 3 other being encoded by EZH1/2, EED and RBBP4/7). The complex has a methyltransferase activity, catalyzing addition of up to 3 methyl groups on histone 3 at lysine residue 27 (H3K27), leading to chromatin compaction and further to gene silencing.

Mutations in genes encoding 2 other core components of the PRC2 complex - namely EZH2 and EED - cause Weaver and Cohen-Gibson syndrome with overlapping phenotype incl. overgrowth, advanced bone age, craniofacial features and DD/ID.

The SET domain of EZH1/2 and EED as well as the VEFS domain of SUZ12 are contributing to the catalytic activity.

SUZ12 variants reported to date include missense and pLoF variants (frameshift, nonsense, splice site ones) predicted to disrupt or eliminate the VEFS-box domain [almost all missense within this domain with the exception of one proximal to it (Arg535Gln) / pLoF causing truncation prior or within this domain (Arg654Ter might be an exception)] {NP_056170.2}.

Variants either occurred de novo or were inherited (~1/3), on some occasions from a mildly affected parent. Parental mosaicism has also been reported (eg. in ref1, and one or possibly two additional families in ref3).

Some preliminary assumptions on possible genotype-phenotype correlations (for overgrowth and ID related to missense/pLoF variants) are discussed in ref3.

SUZ12 is also be deleted in some patients with NF1 deletion (and a diagnosis of neurofibromatosis type 1). Deletion of SUZ12 has been proposed to contribute to the phenotype of these individuals (eg. overgrowth, cognitive development, facial features). [Discussed in ref1].

Functional studies have been carried out only in the first report (ref1) and demonstrated decreased trimethylation of H3K27 in the case of a missense variant. Overall a partial loss-of-function mechanism has been proposed for the variants.

Mouse models: A study by Pasini et al (PMID: 15385962) did not report phenotypic differences between wt and heterozygous Suz12 knockout mice (gene-trap vector) as for size, morphology and fertility. Total knockout resulted in embryonic lethality, significant growth retardation and several developmental defects. Loss of Suz12 was shown to result in absence of di- and tri-methylated H3K27 in the ko embryos. In another study cited (Miro et al - PMID: 19535498) heterozygous mice (replacement of exons 12-16 with a lacZ gene and neo cassette) displayed variable CNS defects with incomplete penetrance.

The role of the PRC2 complex and the phenotypes related to mutations in genes encoding its core components, are discussed in PMID: 31724824 (also by Cyrus et al, 2019).

SUZ12 is not associated with any phenotype in OMIM. In G2P it is included in the DD panel associated with Weaver-like overgrowth syndrome (disease confidence : confirmed). The gene is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
Sources: Literature
Intellectual disability v3.0 SUZ12 Konstantinos Varvagiannis gene: SUZ12 was added
gene: SUZ12 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 28229514; 30019515; 31736240; 15385962; 19535498; 31724824
Phenotypes for gene: SUZ12 were set to Overgrowth; Global developmental delay; Intellectual disability; Accelerated skeletal maturation; Abnormality of the skeletal system; Abnormality of the genitourinary system; Abnormality of the corpus callosum; Abnormality of the respiratory system; Abnormality of the abdominal wall
Penetrance for gene: SUZ12 were set to unknown
Review for gene: SUZ12 was set to GREEN
Added comment: ID can be a feature in individuals heterozygous for SUZ12 pathogenic variants. 13 affected individuals (from 12 families) have been reported:

[1] PMID 28229514 (Imagawa et al, 2017) : 1 individual
[2] PMID 30019515 (Imagawa et al, 2018) : 2 further unrelated subjects
[3] PMID 31736240 (Cyrus et al, 2019) : 10 newly diagnosed subjects (from 9 families)

Reviewed by Cyrus et al, features observed in more than half of the (13) affected individuals included prenatal and/or postnatal overgrowth (in some only prenatal, others only postnatal, others did not manifest overgrowth at all), some suggestive facial features (eg. prominent forehead, hypertelorism, downslanting palpebral fissures, round face, broad/low nasal bridge), DD and ID (the latter in 7/13, in most cases mild), advanced bone age, musculoskeletal abnormalities and cryptorchidism. Less frequent features included brain MRI abnormalities (eg. CC hypoplasia/agenesis, etc.), umbilical hernias, respiratory abnormalities, cardiac anomalies (in one).

All were diagnosed with WES/WGS/panel testing, with few having additional findings upon this or prior testing (eg. CNVs/SNVs).

SUZ12 encodes one of the 4 core proteins of the PRC2 complex (the 3 other being encoded by EZH1/2, EED and RBBP4/7). The complex has a methyltransferase activity, catalyzing addition of up to 3 methyl groups on histone 3 at lysine residue 27 (H3K27), leading to chromatin compaction and further to gene silencing.

Mutations in genes encoding 2 other core components of the PRC2 complex - namely EZH2 and EED - cause Weaver and Cohen-Gibson syndrome with overlapping phenotype incl. overgrowth, advanced bone age, craniofacial features and DD/ID.

The SET domain of EZH1/2 and EED as well as the VEFS domain of SUZ12 are contributing to the catalytic activity.

SUZ12 variants reported to date include missense and pLoF variants (frameshift, nonsense, splice site ones) predicted to disrupt or eliminate the VEFS-box domain [almost all missense within this domain with the exception of one proximal to it (Arg535Gln) / pLoF causing truncation prior or within this domain (Arg654Ter might be an exception)] {NP_056170.2}.

Variants either occurred de novo or were inherited (~1/3), on some occasions from a mildly affected parent. Parental mosaicism has also been reported (eg. in ref1, and one or possibly two additional families in ref3).

Some preliminary assumptions on possible genotype-phenotype correlations (for overgrowth and ID related to missense/pLoF variants) are discussed in ref3.

SUZ12 is also be deleted in some patients with NF1 deletion (and a diagnosis of neurofibromatosis type 1). Deletion of SUZ12 has been proposed to contribute to the phenotype of these individuals (eg. overgrowth, cognitive development, facial features). [Discussed in ref1].

Functional studies have been carried out only in the first report (ref1) and demonstrated decreased trimethylation of H3K27 in the case of a missense variant. Overall a partial loss-of-function mechanism has been proposed for the variants.

Mouse models: An study by Pasini et al (PMID: 15385962) did not report phenotypic differences between wt and heterozygous Suz12 knockout mice (gene-trap vector) as for size, morphology and fertility. Total knockout resulted in embryonic lethality, significant growth retardation and several developmental defects. Loss of Suz12 was shown to result in absence of di- and tri-methylated H3K27 in the ko embryos. In another study cited (Miro et al - PMID: 19535498) heterozygous mice (replacement of exons 12-16 with a lacZ gene and neo cassette) displayed variable CNS defects with incomplete penetrance.

The role of the PRC2 complex and the phenotypes related to mutations in genes encoding its core components, are discussed in PMID: 31724824 (also by Cyrus et al, 2019).

SUZ12 is not associated with any phenotype in OMIM. In G2P it is included in the DD panel associated with Weaver-like overgrowth syndrome (disease confidence : confirmed). The gene is also included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).
Sources: Literature
Adult solid tumours cancer susceptibility v2.0 Ellen McDonagh promoted panel to version 2.0
Adult solid tumours cancer susceptibility v1.10 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Adult solid tumours cancer susceptibility v1.9 RABL3 Ellen McDonagh Phenotypes for gene: RABL3 were changed from PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 to {?Pancreatic cancer, susceptibility to, 5} 618680
Adult solid tumours cancer susceptibility v1.8 RABL3 Ellen McDonagh Marked gene: RABL3 as ready
Adult solid tumours cancer susceptibility v1.8 RABL3 Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence).
Adult solid tumours cancer susceptibility v1.8 RABL3 Ellen McDonagh Classified gene: RABL3 as Red List (low evidence)
Adult solid tumours cancer susceptibility v1.8 RABL3 Ellen McDonagh Added comment: Comment on list classification: This gene was added by a reviewer and rated Green. Curated and added to the panel as Red, as this is a new publication describing only one family where a variant in this gene was reported as being associated with hereditary pancreatic cancer (PMID: 31406347). This is still displayed in OMIM as {?Pancreatic cancer, susceptibility to, 5} until more evidence arises. Functional evidence for an effect, but as there is only one family, this should remain Red until further evidence arises.
Adult solid tumours cancer susceptibility v1.8 RABL3 Ellen McDonagh Gene: rabl3 has been classified as Red List (Low Evidence).
Sarcoma susceptibility v1.0 Ellen McDonagh promoted panel to version 1.0
Sarcoma susceptibility v0.11 Ellen McDonagh Panel types changed to GMS Cancer Germline Virtual; GMS signed-off
Haematological malignancies cancer susceptibility v2.0 Ellen McDonagh promoted panel to version 2.0
Haematological malignancies cancer susceptibility v1.21 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Congenital myaesthenic syndrome v2.0 Louise Daugherty promoted panel to version 2.0
Congenital myaesthenic syndrome v1.77 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myaesthenic syndrome v1.76 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Congenital myopathy v2.0 Louise Daugherty promoted panel to version 2.0
Congenital myopathy v1.235 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Early onset or syndromic epilepsy v2.0 AFF3 Konstantinos Varvagiannis changed review comment from: Voisin et al. (2019 - https://doi.org/10.1101/693937) report on 10 individuals with de novo missense AFF3 variants affecting a 9-amino-acid sequence (degron) important for the protein's degradation and summarize the phenotype of an additional individual previously described by Steichen-Gersdorf et al. (2008 - PMID: 18616733) with a 500 kb affecting only AFF3 (LAF4) and removing also this sequence.

The phenotype of missense variants consisted of kidney anomalies, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability and pulmonary problems and was overlapping with that of the deletion. [10 of 11 subjects exhibited severe developmental epileptic encephalopathy].

9 probands harbored missense variants affecting the codon 258 while one individual had a variant affecting codon 260 [c.772G>T or p.Ala258Ser (x2), c.772G>A or p.Ala258Thr (x6), c.773C>T or p.Ala258Val (x1) and c.779T>G or p.(Val260Gly) (x1) - NM_001025108.1 / NP_001020279.1]. The deletion removed exons 4-13.

AFF1-4 are ALF transcription factor paralogs, components of the transcriptional super elongation complex regulating expression of genes involved in neurogenesis and development.

Using HEK293T cells expressing FLAG-tagged AFF3 (and AFF4) wt or mutants, accumulation of mutated forms was shown upon immunoblot.

Aff3+/- and/or -/- mice exhibit skeletal defects. These were more pronounced in homozygous mice which demonstrated also some elements in favor of kidney dysfunction and/or metabolic deregulation and possible neurological dysfunction (signs of impaired hearing and diminished grip strength). Homozygous mice had CNS anomalies (enlarged lateral ventricles and decreased corpus callosum size) similar to some affected individuals, although these were not observed in another Aff3-/- model. Knock-in mice modeling the microdeletion and the Ala258Thr variant displayed lower mesomelic limb deformities and early lethality respectively [cited PMIDs : 21677750, 25660031, knock-in model was part of the present study].

Accumulation of the protein in zebrafish (by overexpression of the human wt AFF3 mRNA), led to morphological defects.

Reanalysis of transcriptome data from previously generated HEK293T cell lines knocked down for AFF2, AFF3 and AFF4 by shRNAs (study) suggested that these transcription factors are not redundant.

Finally, CHOPS syndrome (#616368) due to mutations of AFF4 also leading to increased protein stability presents a partially overlapping phenotype (incl. cognitive impairment) to that of AFF3.
----
In G2P, AFF3 is associated with Skeletal dysplasia with severe neurological disease (disease confidence : probable / ID and seizures among the assigned phenotypes). There is no associated phenotype in OMIM.
----
As a result this gene can be considered for inclusion in the epilepsy panel as green (relevant phenotype and severity, sufficient cases, evidence for accumulation similar to AFF4, animal models, etc) or amber (pending publication of the article).
Sources: Literature

---------------

Shimizu et al. (8/2019 - PMID: 31388108) describe an additional individual with de novo AFF3 missense variant. The phenotype overlaps with that summarized by Voisin et al. incl. mesomelic dysplasia with additional skeletal anomalies, bilateral kidney hypoplasia and severe DD at the age of 2.5 years. Seizures and pulmonary problems were not observed. Although a different RefSeq is used the variant is among those also reported by Voisin et al. [NM_002285.2:c.697G>A (p.Ala233Thr) corresponding to NM_001025108.1:c.772G>A (p.Ala258Thr)].; to: Voisin et al. (2019 - https://doi.org/10.1101/693937) report on 10 individuals with de novo missense AFF3 variants affecting a 9-amino-acid sequence (degron) important for the protein's degradation and summarize the phenotype of an additional individual previously described by Steichen-Gersdorf et al. (2008 - PMID: 18616733) with a 500 kb deletion affecting only AFF3 (LAF4) and removing also this sequence.

The phenotype of missense variants consisted of kidney anomalies, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability and pulmonary problems and was overlapping with that of the deletion. [10 of 11 subjects exhibited severe developmental epileptic encephalopathy].

9 probands harbored missense variants affecting the codon 258 while one individual had a variant affecting codon 260 [c.772G>T or p.Ala258Ser (x2), c.772G>A or p.Ala258Thr (x6), c.773C>T or p.Ala258Val (x1) and c.779T>G or p.(Val260Gly) (x1) - NM_001025108.1 / NP_001020279.1]. The deletion removed exons 4-13.

AFF1-4 are ALF transcription factor paralogs, components of the transcriptional super elongation complex regulating expression of genes involved in neurogenesis and development.

Using HEK293T cells expressing FLAG-tagged AFF3 (and AFF4) wt or mutants, accumulation of mutated forms was shown upon immunoblot.

Aff3+/- and/or -/- mice exhibit skeletal defects. These were more pronounced in homozygous mice which demonstrated also some elements in favor of kidney dysfunction and/or metabolic deregulation and possible neurological dysfunction (signs of impaired hearing and diminished grip strength). Homozygous mice had CNS anomalies (enlarged lateral ventricles and decreased corpus callosum size) similar to some affected individuals, although these were not observed in another Aff3-/- model. Knock-in mice modeling the microdeletion and the Ala258Thr variant displayed lower mesomelic limb deformities and early lethality respectively [cited PMIDs : 21677750, 25660031, knock-in model was part of the present study].

Accumulation of the protein in zebrafish (by overexpression of the human wt AFF3 mRNA), led to morphological defects.

Reanalysis of transcriptome data from previously generated HEK293T cell lines knocked down for AFF2, AFF3 and AFF4 by shRNAs (study) suggested that these transcription factors are not redundant.

Finally, CHOPS syndrome (#616368) due to mutations of AFF4 also leading to increased protein stability presents a partially overlapping phenotype (incl. cognitive impairment) to that of AFF3.
----
In G2P, AFF3 is associated with Skeletal dysplasia with severe neurological disease (disease confidence : probable / ID and seizures among the assigned phenotypes). There is no associated phenotype in OMIM.
----
As a result this gene can be considered for inclusion in the epilepsy panel as green (relevant phenotype and severity, sufficient cases, evidence for accumulation similar to AFF4, animal models, etc) or amber (pending publication of the article).
Sources: Literature

---------------

Shimizu et al. (8/2019 - PMID: 31388108) describe an additional individual with de novo AFF3 missense variant. The phenotype overlaps with that summarized by Voisin et al. incl. mesomelic dysplasia with additional skeletal anomalies, bilateral kidney hypoplasia and severe DD at the age of 2.5 years. Seizures and pulmonary problems were not observed. Although a different RefSeq is used the variant is among those also reported by Voisin et al. [NM_002285.2:c.697G>A (p.Ala233Thr) corresponding to NM_001025108.1:c.772G>A (p.Ala258Thr)].
Intellectual disability v3.0 Rebecca Foulger promoted panel to version 3.0
Intellectual disability v2.1143 AFF3 Konstantinos Varvagiannis changed review comment from: Voisin et al. (2019 - https://doi.org/10.1101/693937) report on 10 individuals with de novo missense AFF3 variants affecting a 9-amino-acid sequence (degron) important for the protein's degradation and summarize the phenotype of an additional individual previously described by Steichen-Gersdorf et al. (2008 - PMID: 18616733) with a 500 kb affecting only AFF3 (LAF4) and removing also this sequence.

The phenotype of missense variants consisted of kidney anomalies, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability and pulmonary problems and was overlapping with that of the deletion. [10 of 11 subjects exhibited severe developmental epileptic encephalopathy].

9 probands harbored missense variants affecting the codon 258 while one individual had a variant affecting codon 260 [c.772G>T or p.Ala258Ser (x2), c.772G>A or p.Ala258Thr (x6), c.773C>T or p.Ala258Val (x1) and c.779T>G or p.(Val260Gly) (x1) - NM_001025108.1 / NP_001020279.1]. The deletion removed exons 4-13.

AFF1-4 are ALF transcription factor paralogs, components of the transcriptional super elongation complex regulating expression of genes involved in neurogenesis and development.

Using HEK293T cells expressing FLAG-tagged AFF3 (and AFF4) wt or mutants, accumulation of mutated forms was shown upon immunoblot.

Aff3+/- and/or -/- mice exhibit skeletal defects. These were more pronounced in homozygous mice which demonstrated also some elements in favor of kidney dysfunction and/or metabolic deregulation and possible neurological dysfunction (signs of impaired hearing and diminished grip strength). Homozygous mice had CNS anomalies (enlarged lateral ventricles and decreased corpus callosum size) similar to some affected individuals, although these were not observed in another Aff3-/- model. Knock-in mice modeling the microdeletion and the Ala258Thr variant displayed lower mesomelic limb deformities and early lethality respectively [cited PMIDs : 21677750, 25660031, knock-in model was part of the present study].

Accumulation of the protein in zebrafish (by overexpression of the human wt AFF3 mRNA), led to morphological defects.

Reanalysis of transcriptome data from previously generated HEK293T cell lines knocked down for AFF2, AFF3 and AFF4 by shRNAs (study) suggested that these transcription factors are not redundant.

Finally, CHOPS syndrome (#616368) due to mutations of AFF4 also leading to increased protein stability presents a partially overlapping phenotype (incl. cognitive impairment) to that of AFF3.
----
Shimizu et al. (8/2019 - PMID: 31388108) describe an additional individual with de novo AFF3 missense variant. The phenotype overlaps with that summarized by Voisin et al. incl. mesomelic dysplasia with additional skeletal anomalies, bilateral kidney hypoplasia and severe DD at the age of 2.5 years. Seizures and pulmonary problems were not observed. Although a different RefSeq is used the variant is among those also reported by Voisin et al. [NM_002285.2:c.697G>A (p.Ala233Thr) corresponding to NM_001025108.1:c.772G>A (p.Ala258Thr)].
----
In G2P, AFF3 is associated with Skeletal dysplasia with severe neurological disease (disease confidence : probable / ID and seizures among the assigned phenotypes). There is no associated phenotype in OMIM.
Some diagnostic laboratories include AFF3 in their ID panel (eg. among the many co-authors' affiliations GeneDx and Victorian Clinical Genetics - which was already listed as source for AFF3 in the current panel).
----
As a result this gene can be considered for upgrade to green (relevant phenotype and severity, sufficient cases, evidence for accumulation similar to AFF4, animal models, etc) or amber (pending publication of the article).

[Review modified to add additional reference/case report]; to: Voisin et al. (2019 - https://doi.org/10.1101/693937) report on 10 individuals with de novo missense AFF3 variants affecting a 9-amino-acid sequence (degron) important for the protein's degradation and summarize the phenotype of an additional individual previously described by Steichen-Gersdorf et al. (2008 - PMID: 18616733) with a 500 kb deletion affecting only AFF3 (LAF4) and removing also this sequence.

The phenotype of missense variants consisted of kidney anomalies, mesomelic dysplasia, seizures, hypertrichosis, intellectual disability and pulmonary problems and was overlapping with that of the deletion. [10 of 11 subjects exhibited severe developmental epileptic encephalopathy].

9 probands harbored missense variants affecting the codon 258 while one individual had a variant affecting codon 260 [c.772G>T or p.Ala258Ser (x2), c.772G>A or p.Ala258Thr (x6), c.773C>T or p.Ala258Val (x1) and c.779T>G or p.(Val260Gly) (x1) - NM_001025108.1 / NP_001020279.1]. The deletion removed exons 4-13.

AFF1-4 are ALF transcription factor paralogs, components of the transcriptional super elongation complex regulating expression of genes involved in neurogenesis and development.

Using HEK293T cells expressing FLAG-tagged AFF3 (and AFF4) wt or mutants, accumulation of mutated forms was shown upon immunoblot.

Aff3+/- and/or -/- mice exhibit skeletal defects. These were more pronounced in homozygous mice which demonstrated also some elements in favor of kidney dysfunction and/or metabolic deregulation and possible neurological dysfunction (signs of impaired hearing and diminished grip strength). Homozygous mice had CNS anomalies (enlarged lateral ventricles and decreased corpus callosum size) similar to some affected individuals, although these were not observed in another Aff3-/- model. Knock-in mice modeling the microdeletion and the Ala258Thr variant displayed lower mesomelic limb deformities and early lethality respectively [cited PMIDs : 21677750, 25660031, knock-in model was part of the present study].

Accumulation of the protein in zebrafish (by overexpression of the human wt AFF3 mRNA), led to morphological defects.

Reanalysis of transcriptome data from previously generated HEK293T cell lines knocked down for AFF2, AFF3 and AFF4 by shRNAs (study) suggested that these transcription factors are not redundant.

Finally, CHOPS syndrome (#616368) due to mutations of AFF4 also leading to increased protein stability presents a partially overlapping phenotype (incl. cognitive impairment) to that of AFF3.
----
Shimizu et al. (8/2019 - PMID: 31388108) describe an additional individual with de novo AFF3 missense variant. The phenotype overlaps with that summarized by Voisin et al. incl. mesomelic dysplasia with additional skeletal anomalies, bilateral kidney hypoplasia and severe DD at the age of 2.5 years. Seizures and pulmonary problems were not observed. Although a different RefSeq is used the variant is among those also reported by Voisin et al. [NM_002285.2:c.697G>A (p.Ala233Thr) corresponding to NM_001025108.1:c.772G>A (p.Ala258Thr)].
----
In G2P, AFF3 is associated with Skeletal dysplasia with severe neurological disease (disease confidence : probable / ID and seizures among the assigned phenotypes). There is no associated phenotype in OMIM.
Some diagnostic laboratories include AFF3 in their ID panel (eg. among the many co-authors' affiliations GeneDx and Victorian Clinical Genetics - which was already listed as source for AFF3 in the current panel).
----
As a result this gene can be considered for upgrade to green (relevant phenotype and severity, sufficient cases, evidence for accumulation similar to AFF4, animal models, etc) or amber (pending publication of the article).

[Review modified to add additional reference/case report]
Intellectual disability v2.1143 Rebecca Foulger 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; R29
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Paediatric disorders - additional genes v0.43 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Hereditary neuropathy or pain disorder v0.105 Louise Daugherty Panel types changed to GMS Rare Disease
DDG2P v1.177 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Early onset or syndromic epilepsy v2.0 Rebecca Foulger promoted panel to version 2.0
Hereditary neuropathy or pain disorder v0.104 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.104 AR_CAG Louise Daugherty Added comment: Comment on list classification: changed rating : It was agreed that the 10 STRs submitted by Alex Rossor should be on the WGS panel only, with the exception of AR, which should be on both- so this STR was upgraded to Green - R78 has no mention of age in the directory, and will mostly be used for non-syndromic adult cases.
Hereditary neuropathy or pain disorder v0.104 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.498 Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Vascular skin disorders v0.26 KDR Catherine Snow Classified gene: KDR as Amber List (moderate evidence)
Vascular skin disorders v0.26 KDR Catherine Snow Added comment: Comment on list classification: KDR rated as Amber by Tom Cullup as variants only reported in two individuals, one germline one somatic.
Vascular skin disorders v0.26 KDR Catherine Snow Gene: kdr has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.0 Rebecca Foulger promoted panel to version 3.0
Arthrogryposis v2.121 Rebecca Foulger Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Childhood solid tumours v2.0 Ivone Leong promoted panel to version 2.0
Skeletal ciliopathies v1.0 Eleanor Williams promoted panel to version 1.0
Skeletal ciliopathies v0.44 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Intellectual disability v2.1141 AKAP17A Rebecca Foulger Mode of inheritance for gene: AKAP17A was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Vascular skin disorders v0.25 ATR Catherine Snow Classified gene: ATR as Amber List (moderate evidence)
Vascular skin disorders v0.25 ATR Catherine Snow Added comment: Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time.
Vascular skin disorders v0.25 ATR Catherine Snow Gene: atr has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.423 SDHC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.423 SDHC Sarah Leigh Deleted their comment
Intellectual disability v2.1140 AKAP17A Rebecca Foulger Deleted their review
Intellectual disability v2.1140 AKAP17A Rebecca Foulger Deleted their comment
Intellectual disability v2.1140 AKAP17A Rebecca Foulger changed review comment from: Comment on mode of inheritance: Set MOI to BIALLELIC. Pseudoautosomal region 1. Mode of inheritance has not been thoroughly checked, but assumed to be biallelic.; to: Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Intellectual disability v2.1140 CSF2RA Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI to BIALLELIC. Pseudoautosomal region 1. Mode of inheritance has been checked.
Intellectual disability v2.1140 CSF2RA Rebecca Foulger Mode of inheritance for gene: CSF2RA 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 BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1139 AKAP17A Rebecca Foulger Added comment: Comment on mode of inheritance: Set MOI to BIALLELIC. Pseudoautosomal region 1. Mode of inheritance has not been thoroughly checked, but assumed to be biallelic.
Intellectual disability v2.1139 AKAP17A Rebecca Foulger Mode of inheritance for gene: AKAP17A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v2.0 Eleanor Williams promoted panel to version 2.0
Limb disorders v1.143 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Intellectual disability v2.1138 FA2H Rebecca Foulger Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive, 612319 to Spastic paraplegia 35, autosomal recessive, 612319; spastic paraplegia with ID; cognitive defects; Seizures
Intellectual disability v2.1137 FA2H Rebecca Foulger Publications for gene: FA2H were set to 24833714; 20104589
Intellectual disability v2.1136 FA2H Rebecca Foulger Classified gene: FA2H as Green List (high evidence)
Intellectual disability v2.1136 FA2H Rebecca Foulger Added comment: Comment on list classification: Upgraded from Amber to Green based on Green review by Alistair Pagnamenta: PMID:31135052 analysed a cohort of 19 cases with biallelic FA2H variants. Phenotype includes spastic paraplegia associated with ID: mild cognitive deficits were noted from childhood in 93% of cases, and were considered progressive in all but two cases.
Intellectual disability v2.1136 FA2H Rebecca Foulger Gene: fa2h has been classified as Green List (High Evidence).
Limb disorders v1.142 PDE6D Eleanor Williams Classified gene: PDE6D as Amber List (moderate evidence)
Limb disorders v1.142 PDE6D Eleanor Williams Added comment: Comment on list classification: Promoting to amber as now two cases reported, both with polydactyly.
Limb disorders v1.142 PDE6D Eleanor Williams Gene: pde6d has been classified as Amber List (Moderate Evidence).
Clefting v2.0 Eleanor Williams promoted panel to version 2.0
Childhood solid tumours v1.37 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Cancer Germline Virtual; GMS signed-off
Cardiac arrhythmias v6.3 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Clefting v1.61 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Arthrogryposis v2.120 L1CAM Rebecca Foulger Source NHS GMS was added to L1CAM.
Cardiac arrhythmias - additional genes v1.0 Ivone Leong promoted panel to version 1.0
Cardiac arrhythmias - additional genes v0.3 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Arthrogryposis v2.119 TOR1A Rebecca Foulger changed review comment from: Comment on list classification: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).; to: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.119 L1CAM Rebecca Foulger Classified gene: L1CAM as Red List (low evidence)
Arthrogryposis v2.119 L1CAM Rebecca Foulger Added comment: Comment on list classification: Set rating as Red based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.119 L1CAM Rebecca Foulger Gene: l1cam has been classified as Red List (Low Evidence).
Arthrogryposis v2.118 L1CAM Rebecca Foulger commented on gene: L1CAM
Arthrogryposis v2.118 TOR1A Rebecca Foulger Classified gene: TOR1A as Green List (high evidence)
Arthrogryposis v2.118 TOR1A Rebecca Foulger Added comment: Comment on list classification: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.118 TOR1A Rebecca Foulger Gene: tor1a has been classified as Green List (High Evidence).
Arthrogryposis v2.117 DYNC1H1 Rebecca Foulger Source Expert list was added to DYNC1H1.
Arthrogryposis v2.116 TOR1A Rebecca Foulger Phenotypes for gene: TOR1A were changed from arthrogryposis with developmental delay, strabismus and tremor; dystonia to arthrogryposis with developmental delay, strabismus and tremor; Dystonia-1, torsion, 128100
Arthrogryposis v2.115 TOR1A Rebecca Foulger Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Arthrogryposis v2.114 TOR1A Rebecca Foulger Source NHS GMS was added to TOR1A.
Arthrogryposis v2.113 TOR1A Rebecca Foulger commented on gene: TOR1A
Arthrogryposis v2.113 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 to arthrogryposis; neuronal migration abnormalities; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Classified gene: DYNC1H1 as Green List (high evidence)
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Added comment: Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).
Arthrogryposis v2.112 DYNC1H1 Rebecca Foulger Gene: dync1h1 has been classified as Green List (High Evidence).
Arthrogryposis v2.111 DYNC1H1 Rebecca Foulger Source Other was removed from DYNC1H1.
Source NHS GMS was added to DYNC1H1.
Arthrogryposis v2.110 DYNC1H1 Rebecca Foulger Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; spinal muscular atrophy with lower extremity predominance to arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Arthrogryposis v2.109 DYNC1H1 Rebecca Foulger Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
Arthrogryposis v2.108 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.0 Louise Daugherty promoted panel to version 2.0
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.186 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 CRYAB Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI to BOTH due to feedback from Judith Hudson and Chiara Marini Bettolo - We also agree that the mode of inheritance for CRYAB is predominantly monoallelic, though there are rare cases where individuals appear to have two copies of the same pathogenic variant.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.185 CRYAB Louise Daugherty Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Laterality disorders and isomerism v1.0 Louise Daugherty promoted panel to version 1.0
Laterality disorders and isomerism v0.136 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Vascular skin disorders v0.24 TMEM173 Tom Cullup reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: 25029335; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 TEK Tom Cullup reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19888299; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SOX18 Tom Cullup reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 12740761; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SMAD4 Tom Cullup reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15031030; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 SCN9A Tom Cullup reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 14985375; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14639529; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 PIK3R2 Tom Cullup reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22729224, 23745720; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22658544, 22729223, 22729222, 23246288, 22729224; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 KRIT1 Tom Cullup reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10508515; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 KDR Tom Cullup reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 18931684, 11807987; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GNAQ Tom Cullup reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GNA11 Tom Cullup reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 26778290; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 GLMN Tom Cullup reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FOXC2 Tom Cullup reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FLT4 Tom Cullup reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835628, 11807987; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 FECH Tom Cullup reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: 9649563; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 F12 Tom Cullup reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: 16638441; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 EPHB4 Tom Cullup reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28687708; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ENG Tom Cullup reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 7894484; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 CCBE1 Tom Cullup reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ATR Tom Cullup reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341969; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ATM Tom Cullup reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 7792600; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ALAS2 Tom Cullup reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18760763; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ADAMTS13 Tom Cullup reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586351; Phenotypes: ; Mode of inheritance:
Vascular skin disorders v0.24 ACVRL1 Tom Cullup reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8640225; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, childhood onset v0.252 SYNJ1 Louise Daugherty Phenotypes for gene: SYNJ1 were changed from Parkinson disease 20, early-onset; juvenile Parkinsonism to Parkinson disease 20, early-onset, 615530; juvenile Parkinsonism
Dystonia, chorea or related movement disorder, childhood onset v0.251 SUCLA2 Louise Daugherty Phenotypes for gene: SUCLA2 were changed from Dystonia to Dystonia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Dystonia, chorea or related movement disorder, childhood onset v0.250 SLC6A8 Louise Daugherty Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1 to Cerebral creatine deficiency syndrome 1, 300352
Dystonia, chorea or related movement disorder, childhood onset v0.249 SCN8A Louise Daugherty Phenotypes for gene: SCN8A were changed from paroxysmal kinesigenic dyskinesias; epilepsy to paroxysmal kinesigenic dyskinesias; epilepsy, Seizures, benign familial infantile, 5, 617080
Dystonia, chorea or related movement disorder, childhood onset v0.248 RNASET2 Louise Daugherty Phenotypes for gene: RNASET2 were changed from Leukoencephalopathy, cystic, without megalencephaly to Leukoencephalopathy, cystic, without megalencephaly, 612951
Dystonia, chorea or related movement disorder, childhood onset v0.247 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia
Dystonia, chorea or related movement disorder, childhood onset v0.246 PRKN Louise Daugherty Phenotypes for gene: PRKN were changed from Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia to Dystonia; Parkinson disease, juvenile, type 2, 600116; juvenile parkinsonism/dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.245 POLR3A Louise Daugherty Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090
Dystonia, chorea or related movement disorder, childhood onset v0.244 PNKP Louise Daugherty Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402
Dystonia, chorea or related movement disorder, childhood onset v0.243 PINK1 Louise Daugherty Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset; Dystonia to Parkinson disease 6, early onset, 605909; Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.242 PET100 Louise Daugherty Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, 220110
Dystonia, chorea or related movement disorder, childhood onset v0.241 PANK2 Louise Daugherty Phenotypes for gene: PANK2 were changed from Dystonia; pantothenate kinase-associated neurodegeneration to Dystonia; pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1, 234200
Dystonia, chorea or related movement disorder, childhood onset v0.240 OPA3 Louise Daugherty Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III to 3-methylglutaconic aciduria, type III, 258501
Dystonia, chorea or related movement disorder, childhood onset v0.239 NPC1 Louise Daugherty Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1; Niemann-Pick disease, type D to Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220
Vascular skin disorders v0.23 SCN9A Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Vascular skin disorders v0.23 SCN9A Catherine Snow Mode of inheritance for gene: SCN9A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, childhood onset v0.238 NGLY1 Louise Daugherty Phenotypes for gene: NGLY1 were changed from Congenital disorder of deglycosylation to Congenital disorder of deglycosylation, 615273
Dystonia, chorea or related movement disorder, childhood onset v0.237 NDUFS1 Louise Daugherty Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 to Mitochondrial complex I deficiency, nuclear type 5, 618226
Dystonia, chorea or related movement disorder, childhood onset v0.236 NDUFAF5 Louise Daugherty Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex I deficiency, nuclear type 16 to Mitochondrial complex I deficiency, nuclear type 16, 618238
Dystonia, chorea or related movement disorder, childhood onset v0.235 MTFMT Louise Daugherty Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 to Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248
Dystonia, chorea or related movement disorder, childhood onset v0.234 MRE11 Louise Daugherty Phenotypes for gene: MRE11 were changed from Ataxia-telangiectasia-like disorder 1 to Ataxia-telangiectasia-like disorder 1, 604391
Dystonia, chorea or related movement disorder, childhood onset v0.233 MARS2 Louise Daugherty Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390
Dystonia, chorea or related movement disorder, childhood onset v0.232 LRPPRC Louise Daugherty Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type to Leigh syndrome, French-Canadian type, 220111
Dystonia, chorea or related movement disorder, childhood onset v0.231 KIF1C Louise Daugherty Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive to Spastic ataxia 2, autosomal recessive, 611302
Dystonia, chorea or related movement disorder, childhood onset v0.230 KCNMA1 Louise Daugherty Phenotypes for gene: KCNMA1 were changed from Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy to Cerebellar atrophy, developmental delay, and seizures, 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Sudden unexplained death or survivors of a cardiac event v9.1 Ivone Leong Changed child panels to: Arrhythmogenic cardiomyopathy; Long QT syndrome; Catecholaminergic polymorphic VT; Brugada syndrome; Hypertrophic cardiomyopathy - teen and adult; Progressive cardiac conduction disease; Dilated cardiomyopathy - adult and teen
Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS Rare Disease; GMS signed-off
Dystonia, chorea or related movement disorder, childhood onset v0.229 HSPD1 Louise Daugherty Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4 to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233
Dystonia, chorea or related movement disorder, childhood onset v0.228 HCFC1 Louise Daugherty Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Dystonia, chorea or related movement disorder, childhood onset v0.227 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome to Jaberi-Elahi syndrome, 617988
Dystonia, chorea or related movement disorder, childhood onset v0.226 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant to GM2-gangliosidosis, AB variant, 272750
Vascular skin disorders v0.22 ATR Catherine Snow Added comment: Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Vascular skin disorders v0.22 ATR Catherine Snow Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia, chorea or related movement disorder, childhood onset v0.225 GLB1 Louise Daugherty Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis to GM1-gangliosidosis, type III, 230650
Dystonia, chorea or related movement disorder, childhood onset v0.224 GJC2 Louise Daugherty Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2 to Spastic paraplegia 44, autosomal recessive, 613206; Leukodystrophy, hypomyelinating, 2, 608804
Dystonia, chorea or related movement disorder, childhood onset v0.223 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670
Progressive cardiac conduction disease v1.0 Ivone Leong promoted panel to version 1.0
Progressive cardiac conduction disease v0.48 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Paediatric or syndromic cardiomyopathy v1.0 Ivone Leong promoted panel to version 1.0
Paediatric or syndromic cardiomyopathy v0.63 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Paediatric or syndromic cardiomyopathy v0.62 TTR Ivone Leong Classified gene: TTR as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.62 TTR Ivone Leong Gene: ttr has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.61 TTR Ivone Leong Publications for gene: TTR were set to
Paediatric or syndromic cardiomyopathy v0.60 TTR Ivone Leong changed review comment from: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; to: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.60 TTR Ivone Leong edited their review of gene: TTR: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.60 FHOD3 Ivone Leong Classified gene: FHOD3 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.60 FHOD3 Ivone Leong Gene: fhod3 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.59 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Cardiomyopathies - including childhood onset. Sources: Expert list
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Review for gene: FHOD3 was set to GREEN
Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert list
Paediatric or syndromic cardiomyopathy v0.58 EMD Ivone Leong Classified gene: EMD as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.58 EMD Ivone Leong Gene: emd has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.57 EMD Ivone Leong changed review comment from: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.; to: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.57 EMD Ivone Leong edited their review of gene: EMD: Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Classified gene: CSRP3 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Paediatric or syndromic cardiomyopathy v0.57 CSRP3 Ivone Leong Gene: csrp3 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.56 CDH2 Ivone Leong Classified gene: CDH2 as Green List (high evidence)
Paediatric or syndromic cardiomyopathy v0.56 CDH2 Ivone Leong Gene: cdh2 has been classified as Green List (High Evidence).
Paediatric or syndromic cardiomyopathy v0.55 CDH2 Ivone Leong gene: CDH2 was added
gene: CDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert list
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: CDH2 was set to GREEN
Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Sources: Expert list
Arrhythmogenic right ventricular cardiomyopathy v2.0 Ivone Leong promoted panel to version 2.0
Arrhythmogenic right ventricular cardiomyopathy v1.59 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Dilated and arrhythmogenic cardiomyopathy v1.0 Ivone Leong promoted panel to version 1.0
Dilated and arrhythmogenic cardiomyopathy v0.63 Ivone Leong Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypertrophic cardiomyopathy v2.0 Ivone Leong promoted panel to version 2.0
Hypertrophic cardiomyopathy v1.95 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Short QT syndrome v2.0 Ivone Leong promoted panel to version 2.0
Short QT syndrome v1.27 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Catecholaminergic polymorphic VT v2.0 Ivone Leong promoted panel to version 2.0
Catecholaminergic polymorphic VT v1.30 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Brugada syndrome and cardiac sodium channel disease v2.0 Ivone Leong promoted panel to version 2.0
Brugada syndrome and cardiac sodium channel disease v1.47 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Long QT syndrome v2.0 Ivone Leong promoted panel to version 2.0
Long QT syndrome v1.49 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Thoracic aortic aneurysm or dissection (GMS) v1.0 Ivone Leong promoted panel to version 1.0
Thoracic aortic aneurysm or dissection (GMS) v0.61 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Thoracic aortic aneurysm or dissection (GMS) v0.60 SMAD6 Ivone Leong Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823
Thoracic aortic aneurysm or dissection (GMS) v0.59 SMAD6 Ivone Leong Publications for gene: SMAD6 were set to
Thoracic aortic aneurysm or dissection (GMS) v0.58 SMAD6 Ivone Leong Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Catecholaminergic polymorphic VT v1.29 CALM3 Ivone Leong Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v0.57 ABL1 Ivone Leong Classified gene: ABL1 as Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.57 ABL1 Ivone Leong Gene: abl1 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.56 SMAD6 Ivone Leong Source Expert Review Green was added to SMAD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 SMAD4 Ivone Leong Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 SMAD2 Ivone Leong Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 PLOD1 Ivone Leong Source Expert Review Green was added to PLOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 MFAP5 Ivone Leong Source Expert Review Green was added to MFAP5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 FOXE3 Ivone Leong Source Expert Review Green was added to FOXE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 FKBP14 Ivone Leong Source Expert Review Green was added to FKBP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 FBLN5 Ivone Leong Source Expert Review Green was added to FBLN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.56 ELN Ivone Leong Source Expert Review Green was added to ELN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 EMD Ivone Leong Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 NKX2-5 Ivone Leong Source Expert Review Green was added to NKX2-5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 TTR Ivone Leong Source Expert Review Green was added to TTR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 GLA Ivone Leong Source Expert Review Green was added to GLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 LAMP2 Ivone Leong Source Expert Review Green was added to LAMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Progressive cardiac conduction disease v0.47 HCN4 Ivone Leong Source Expert Review Green was added to HCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Catecholaminergic polymorphic VT v1.28 CALM3 Ivone Leong Source Expert Review Green was added to CALM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.48 CALM3 Ivone Leong Source Expert Review Green was added to CALM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.48 CALM2 Ivone Leong Source Expert Review Green was added to CALM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.48 CALM1 Ivone Leong Source Expert Review Green was added to CALM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 JPH2 Ivone Leong Source Expert Review Green was added to JPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 FHOD3 Ivone Leong Source Expert Review Green was added to FHOD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 CACNA1C Ivone Leong Source Expert Review Green was added to CACNA1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 ACTN2 Ivone Leong Source Expert Review Green was added to ACTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 TNNI3K Ivone Leong Source Expert Review Green was added to TNNI3K.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 TNNC1 Ivone Leong Source Expert Review Green was added to TNNC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 RYR2 Ivone Leong Source Expert Review Green was added to RYR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 NEXN Ivone Leong Source Expert Review Green was added to NEXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 MYBPC3 Ivone Leong Source Expert Review Green was added to MYBPC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 EMD Ivone Leong Source Expert Review Green was added to EMD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 DOLK Ivone Leong Source Expert Review Green was added to DOLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 CDH2 Ivone Leong Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Dilated and arrhythmogenic cardiomyopathy v0.62 ACTN2 Ivone Leong Source Expert Review Green was added to ACTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arrhythmogenic right ventricular cardiomyopathy v1.58 CDH2 Ivone Leong Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.55 ABL1 Kate Thomson reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 SMAD6 Kate Thomson reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 SMAD4 Kate Thomson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 SMAD2 Kate Thomson reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 PLOD1 Kate Thomson reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 MFAP5 Kate Thomson reviewed gene: MFAP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 FOXE3 Kate Thomson reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 FLNA Kate Thomson reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 FKBP14 Kate Thomson reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 FBLN5 Kate Thomson reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection (GMS) v0.55 ELN Kate Thomson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 EMD Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 NKX2-5 Kate Thomson reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 TTR Kate Thomson reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 GLA Kate Thomson reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 LAMP2 Kate Thomson reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Progressive cardiac conduction disease v0.46 HCN4 Kate Thomson reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Catecholaminergic polymorphic VT v1.27 CALM3 Kate Thomson reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.47 CALM3 Kate Thomson reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.47 CALM2 Kate Thomson reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.47 CALM1 Kate Thomson reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 JPH2 Kate Thomson reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 FHOD3 Kate Thomson reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 CACNA1C Kate Thomson reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 ACTN2 Kate Thomson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 TNNI3K Kate Thomson reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 TNNC1 Kate Thomson reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 RYR2 Kate Thomson reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 NEXN Kate Thomson reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 MYBPC3 Kate Thomson reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 EMD Kate Thomson reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 DOLK Kate Thomson reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 CDH2 Kate Thomson reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dilated and arrhythmogenic cardiomyopathy v0.61 ACTN2 Kate Thomson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic right ventricular cardiomyopathy v1.57 CDH2 Kate Thomson reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.497 TRAPPC4 Konstantinos Varvagiannis gene: TRAPPC4 was added
gene: TRAPPC4 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to Feeding difficulties; Progressive microcephaly; Intellectual disability; Seizures; Spastic tetraparesis; Abnormality of the face; Scoliosis; Cortical visual impairment; Hearing impairment
Penetrance for gene: TRAPPC4 were set to Complete
Review for gene: TRAPPC4 was set to GREEN
Added comment: Van Bergen et al. (2019 - PMID: 31794024) report on 7 affected individuals from 3 famillies (only 1 of which consanguineous), all homozygous for a TRAPPC4 splicing variant.

Overlapping features included feeding difficulties, progressive microcephaly, severe to profound developmental disability (7/7 - DD also prior to the onset of seizures / regression also reported in 3), epilepsy (7/7 - onset in the first year), spastic quadriparesis. Other findings in some/few incl. scoliosis, cortical visual and hearing impairment. Some facial features were shared (eg. bitemporal narrowing, long philtrum, open mouth with thin tented upper lip, pointed chin, etc). Brain imaging demonstrated abnormalities in those performed (among others cerebral with/without cerebellar atrophy).

Work-up prior to exome sequencing was normal (highly variable incl. metabolic testing, CMA, MECP2, CDKL5, mitochondrial depletion studies, etc).

Exome of affected individuals (and parents +/- affected sibs in some families) revealed a homozygous TRAPPC4 splicing variant [NM_016146.5:c.454+3A>G / chr11:g.118890966A>G (hg19)]. Sanger sequencing confirmed variant in affecteds, heterozygosity in parents and compatible genotypes with disease status in sibs/other members.

Families were of Caucasian/Turkish and French-Canadian ethnicities. SNP array to compare haplotypes between affecteds in 2 families did not reveal a shared haplotype (/founder effect) and the variant is present in gnomAD (68/281054 - no hmz) in many populations (European/Asian/African/Latino) [https://gnomad.broadinstitute.org/variant/11-118890966-A-G].

mRNA studies in fibroblasts from an affected individual confirmed the splicing defect (2 RT-PCR products corresponding to wt and a shorter due to skipping of exon 3, the latter further confirmed by Sanger sequencing. The shorter transcript is not present in controls). qPCR revealed that the normal transript in patient fibroblasts was present at 6% of the level observed in control fibroblasts (or 54% in the case of a heterozygote parent compared to controls).

Western blot in patient fibroblasts, revealed presence of full-length protein in significantly reduced levels compared to fibroblasts from carrier parents or controls. There was no band using an antibody targeting the N-terminal region of the protein prior to exon 3, suggesting that NMD applies (skipping of ex3 is also predicted to lead to frameshift).

TRAPPC4 encodes one of the core proteins of the TRAPP complex. Use of different accessory proteins leads to formation of 2 distinct complexes (TRAPPII / III). The complex has an important role in intracellular trafficking. Both TRAPPII & TRAPPIII have a function in the secretory pathway, while complex III has a role also in autophagy. Core proteins are important for the complex stability. The TRAPP complex serves as a GEF for Ypt/Rab GTPases [several refs in article].

Mutations in genes for other proteins of the complex lead to neurodevelopmental disorders with associated ID ('TRAPPopathies' used by the authors / TRAPPC12, C6B, C9 green in the current panel).

Western blot suggested that levels of other TRAPP subunits (TRAPPC2 or C12) under denaturing conditions, although PAGE/size exclusion chromatography suggested that the levels of fully-assembled TRAPP complexes were lower in affected individuals.

Studies in patient fibroblasts showed a secretory defect (between ER, Golgi and the plasma membrane) which was restored upon lentiviral transduction with wt TRAPPC4 construct. Basal and starvation-induced autophagy were also impaired in patient fibroblasts (increased LC3 marker and LC3-positive structures / impaired co-localization with lysosomes) partly due to defective autophagosome formation (/sealing).

TRAPPC4 is the human orthologue of the yeast Trs23. In a yeast model of reduced Trs23 (due to temperature instability) the authors demonstrated impaired assembly of the TRAPP core. The yeast model recapitulated the autophagy as well as well as the secretory defect observed in patient fibroblasts.
Sources: Literature
Intellectual disability v2.1135 TRAPPC4 Konstantinos Varvagiannis gene: TRAPPC4 was added
gene: TRAPPC4 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC4 were set to 31794024
Phenotypes for gene: TRAPPC4 were set to Feeding difficulties; Progressive microcephaly; Intellectual disability; Seizures; Spastic tetraparesis; Abnormality of the face; Scoliosis; Cortical visual impairment; Hearing impairment
Penetrance for gene: TRAPPC4 were set to Complete
Review for gene: TRAPPC4 was set to GREEN
Added comment: Van Bergen et al. (2019 - PMID: 31794024) report on 7 affected individuals from 3 famillies (only 1 of which consanguineous), all homozygous for a TRAPPC4 splicing variant.

Overlapping features included feeding difficulties, progressive microcephaly, severe to profound developmental disability (7/7 - DD also prior to the onset of seizures / regression also reported in 3), epilepsy (7/7 - onset in the first year), spastic quadriparesis. Other findings in some/few incl. scoliosis, cortical visual and hearing impairment. Some facial features were shared (eg. bitemporal narrowing, long philtrum, open mouth with thin tented upper lip, pointed chin, etc). Brain imaging demonstrated abnormalities in those performed (among others cerebral with/without cerebellar atrophy).

Work-up prior to exome sequencing was normal (highly variable incl. metabolic testing, CMA, MECP2, CDKL5, mitochondrial depletion studies, etc).

Exome of affected individuals (and parents +/- affected sibs in some families) revealed a homozygous TRAPPC4 splicing variant [NM_016146.5:c.454+3A>G / chr11:g.118890966A>G (hg19)]. Sanger sequencing confirmed variant in affecteds, heterozygosity in parents and compatible genotypes with disease status in sibs/other members.

Families were of Caucasian/Turkish and French-Canadian ethnicities. SNP array to compare haplotypes between affecteds in 2 families did not reveal a shared haplotype (/founder effect) and the variant is present in gnomAD (68/281054 - no hmz) in many populations (European/Asian/African/Latino) [https://gnomad.broadinstitute.org/variant/11-118890966-A-G].

mRNA studies in fibroblasts from an affected individual confirmed the splicing defect (2 RT-PCR products corresponding to wt and a shorter due to skipping of exon 3, the latter further confirmed by Sanger sequencing. The shorter transcript is not present in controls). qPCR revealed that the normal transript in patient fibroblasts was present at 6% of the level observed in control fibroblasts (or 54% in the case of a heterozygote parent compared to controls).

Western blot in patient fibroblasts, revealed presence of full-length protein in significantly reduced levels compared to fibroblasts from carrier parents or controls. There was no band using an antibody targeting the N-terminal region of the protein prior to exon 3, suggesting that NMD applies (skipping of ex3 is also predicted to lead to frameshift).

TRAPPC4 encodes one of the core proteins of the TRAPP complex. Use of different accessory proteins leads to formation of 2 distinct complexes (TRAPPII / III). The complex has an important role in intracellular trafficking. Both TRAPPII & TRAPPIII have a function in the secretory pathway, while complex III has a role also in autophagy. Core proteins are important for the complex stability. The TRAPP complex serves as a GEF for Ypt/Rab GTPases [several refs in article].

Mutations in genes for other proteins of the complex lead to neurodevelopmental disorders with associated ID ('TRAPPopathies' used by the authors / TRAPPC12, C6B, C9 green in the current panel).

Western blot suggested that levels of other TRAPP subunits (TRAPPC2 or C12) under denaturing conditions, although PAGE/size exclusion chromatography suggested that the levels of fully-assembled TRAPP complexes were lower in affected individuals.

Studies in patient fibroblasts showed a secretory defect (between ER, Golgi and the plasma membrane) which was restored upon lentiviral transduction with wt TRAPPC4 construct. Basal and starvation-induced autophagy were also impaired in patient fibroblasts (increased LC3 marker and LC3-positive structures / impaired co-localization with lysosomes) partly due to defective autophagosome formation (/sealing).

TRAPPC4 is the human orthologue of the yeast Trs23. In a yeast model of reduced Trs23 (due to temperature instability) the authors demonstrated impaired assembly of the TRAPP core. The yeast model recapitulated the autophagy as well as well as the secretory defect observed in patient fibroblasts.
Sources: Literature
Early onset or syndromic epilepsy v1.497 SNX27 Konstantinos Varvagiannis gene: SNX27 was added
gene: SNX27 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: SNX27 were set to Complete
Review for gene: SNX27 was set to AMBER
Added comment: (From the ID panel)

Evidence from 2 publications suggests that DD, ID and seizures are part of the phenotype of individuals with biallelic SNX27 pathogenic variants :
---------
Damseh, Danson et al (2015 - PMID: 25894286) first reported on a consanguineous family with 4 affected sibs, homozygous for an SNX27 pathogenic variant. Features incl. hypotonia soon after birth, failure to thrive, severely delayed psychomotor development with no milestone acquisition, occurrence of myoclonic seizures with 3 individuals deceased early. Exome sequencing in one revealed a few candidate variants, with an SNX27 frameshift one [NM_030918.6:c.515_516del - p.(His172Argfs*6) / absent from ExAC] being the only retained following Sanger segregation studies. Using fibroblasts from an affected individual, Western blot with an antibody which would also bind prior to the truncation site, was consistent with dramatically reduced/absent SNX27 truncated mutant protein. Protein levels of VPS35, a component of the retromer responsible for direct cargo binding (not mediated by a cargo adaptor as SNX27), were normal.
---------
Parente et al (2019 - PMID: 31721175) reported on a 13-year-old male with motor and language delay, ADHD, ID (kindergarten academic level at the age of 13) and seizures with onset at the age of 9 years (GTC, with abnormal EEG and postical SV tachycardia). Variable physical findings were reported. White matter hyperintesities were noted upon initial brain MRI (but were less marked in subsequent ones). Initial genetic testing (Alexander's disease, CMA, FMR1) was normal. Exome revealed compound heterozygosity for 2 SNX27 variants (NM_030918.5/NM_001330723.1 both apply c.510C>G - p.Tyr170* and c.1295G>A - p.Cys432Tyr) each inherited from healthy carrier parents. There were no other potentially causative variants. A parental history of - isolated - late onset seizures was reported (so this individual may not be considered for the seizure phenotype here).

The authors also reported on a further 31-year old affected male. This individual had infantile hypotonia, poor eye contact with subsequent significant DD, seizures (febrile/afebrile T-C with onset at the age of 14m) and ID estimated in the severe range. Variable - though somewhat different - physical findings were reported. Initial work-up included basic metabolic testing, standard karyotype, FISH for 15q11 and subtelomeric regions and PHF6 genetic testing - all normal. Exome (and subsequent Sanger confirmation/parental studies) revealed compound heterozygosity for a missense and a frameshift variant (c.989G>A / p.Arg330His and c.782dupT / p.Leu262Profs*6 same in NM_001330723.1, NM_030918.6).
---------
SNX27 encodes sorting nexin 27, a cargo adaptor for the retromer. The latter is a multi-protein complex essential for regulating the retrieval and recycling of transmembrane cargos from endosomes to the trans-Golgi network or the plasma membrane [Lucas et al 2016 - PMID: 27889239 / McNally et al 2018 - PMID: 30072228].

As summarized by Parente et al, the encoded protein by regulating composition of the cell surface influences several processes eg. neuronal excitability, synaptic plasticity, Wnt signaling etc. It has been shown to interact with surface receptors and their ligands including GIRK channels, 5-HT4, ionotropic glutamate receptors (incl. NMDA- and AMPA-type receptors) and mGluR5 [several refs. provided].

Knockout of Snx27 in mice resulted in embryonic lethality (16% hmz of the 25% expected), severe postnatal growth retardation and death within the first 3 weeks. Snx27(+/-) mice have normal neuroanatomy but exhibit cognitive deficits (in learning and memory) and defects in synaptic function/plasticity with reduced amounts of NMDA and AMPA receptors (Cai et al - PMID: 21300787, Wang et al - PMID: 23524343).
---------
There is no associated phenotype in OMIM/G2P.
Sources: Literature
Intellectual disability v2.1135 SNX27 Konstantinos Varvagiannis gene: SNX27 was added
gene: SNX27 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343
Phenotypes for gene: SNX27 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: SNX27 were set to Complete
Review for gene: SNX27 was set to GREEN
gene: SNX27 was marked as current diagnostic
Added comment: Evidence from 2 publications suggests that DD, ID and seizures are part of the phenotype of individuals with biallelic SNX27 pathogenic variants :
---------
Damseh, Danson et al (2015 - PMID: 25894286) first reported on a consanguineous family with 4 affected sibs, homozygous for an SNX27 pathogenic variant. Features incl. hypotonia soon after birth, failure to thrive, severely delayed psychomotor development with no milestone acquisition, occurrence of myoclonic seizures with 3 individuals deceased early. Exome sequencing in one revealed a few candidate variants, with an SNX27 frameshift one [NM_030918.6:c.515_516del - p.(His172Argfs*6) / absent from ExAC] being the only retained following Sanger segregation studies. Using fibroblasts from an affected individual, Western blot with an antibody which would also bind prior to the truncation site, was consistent with dramatically reduced/absent SNX27 truncated mutant protein. Protein levels of VPS35, a component of the retromer responsible for direct cargo binding (not mediated by a cargo adaptor as SNX27), were normal.
---------
Parente et al (2019 - PMID: 31721175) reported on a 13-year-old male with motor and language delay, ADHD, ID (kindergarten academic level at the age of 13) and seizures with onset at the age of 9 years (GTC, with abnormal EEG and postical SV tachycardia). Variable physical findings were reported. White matter hyperintesities were noted upon initial brain MRI (but were less marked in subsequent ones). Initial genetic testing (Alexander's disease, CMA, FMR1) was normal. Exome revealed compound heterozygosity for 2 SNX27 variants (NM_030918.5/NM_001330723.1 both apply c.510C>G - p.Tyr170* and c.1295G>A - p.Cys432Tyr) each inherited from healthy carrier parents. There were no other potentially causative variants. A parental history of - isolated - late onset seizures was reported (so this individual may not be considered for the seizure phenotype here).

The authors also reported on a further 31-year old affected male. This individual had infantile hypotonia, poor eye contact with subsequent significant DD, seizures (febrile/afebrile T-C with onset at the age of 14m) and ID estimated in the severe range. Variable - though somewhat different - physical findings were reported. Initial work-up included basic metabolic testing, standard karyotype, FISH for 15q11 and subtelomeric regions and PHF6 genetic testing - all normal. Exome (and subsequent Sanger confirmation/parental studies) revealed compound heterozygosity for a missense and a frameshift variant (c.989G>A / p.Arg330His and c.782dupT / p.Leu262Profs*6 same in NM_001330723.1, NM_030918.6).
---------
SNX27 encodes sorting nexin 27, a cargo adaptor for the retromer. The latter is a multi-protein complex essential for regulating the retrieval and recycling of transmembrane cargos from endosomes to the trans-Golgi network or the plasma membrane [Lucas et al 2016 - PMID: 27889239 / McNally et al 2018 - PMID: 30072228].

As summarized by Parente et al, the encoded protein by regulating composition of the cell surface influences several processes eg. neuronal excitability, synaptic plasticity, Wnt signaling etc. It has been shown to interact with surface receptors and their ligands including GIRK channels, 5-HT4, ionotropic glutamate receptors (incl. NMDA- and AMPA-type receptors) and mGluR5 [several refs. provided].

Knockout of Snx27 in mice resulted in embryonic lethality (16% hmz of the 25% expected), severe postnatal growth retardation and death within the first 3 weeks. Snx27(+/-) mice have normal neuroanatomy but exhibit cognitive deficits (in learning and memory) and defects in synaptic function/plasticity with reduced amounts of NMDA and AMPA receptors (Cai et al - PMID: 21300787, Wang et al - PMID: 23524343).
---------
The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx) and a current primary ID gene in SysID. There is no associated phenotype in OMIM/G2P.
Sources: Literature
Dystonia, chorea or related movement disorder, childhood onset v0.222 MT-ATP6 Louise Daugherty Phenotypes for gene: MT-ATP6 were changed from to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
Dystonia, chorea or related movement disorder, childhood onset v0.221 MT-CO3 Louise Daugherty Phenotypes for gene: MT-CO3 were changed from to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Dystonia, chorea or related movement disorder, childhood onset v0.220 MT-ND1 Louise Daugherty Phenotypes for gene: MT-ND1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Dystonia, chorea or related movement disorder, childhood onset v0.220 MT-ND1 Louise Daugherty Phenotypes for gene: MT-ND1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Dystonia, chorea or related movement disorder, childhood onset v0.219 MT-ND3 Louise Daugherty Phenotypes for gene: MT-ND3 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
Dystonia, chorea or related movement disorder, childhood onset v0.218 MT-ND4 Louise Daugherty Phenotypes for gene: MT-ND4 were changed from to Leber Optic Atrophy And Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.217 MT-ND5 Louise Daugherty Phenotypes for gene: MT-ND5 were changed from MELAS SYNDROME to Leber Optic Atrophy And Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.216 MT-ND5 Louise Daugherty Phenotypes for gene: MT-ND5 were changed from to MELAS SYNDROME
Dystonia, chorea or related movement disorder, childhood onset v0.215 MT-TC Louise Daugherty Phenotypes for gene: MT-TC were changed from to DYSTONIA, MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.214 MT-TK Louise Daugherty Phenotypes for gene: MT-TK were changed from to MERRF SYNDROME
Dystonia, chorea or related movement disorder, childhood onset v0.213 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from Spinocerebellar ataxia, autosomal recessive 4 to Spinocerebellar ataxia, autosomal recessive 4, 607317
Dystonia, chorea or related movement disorder, childhood onset v0.212 ZSWIM6 Louise Daugherty Phenotypes for gene: ZSWIM6 were changed from Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
Dystonia, chorea or related movement disorder, childhood onset v0.211 GBA Louise Daugherty Phenotypes for gene: GBA were changed from Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC; Gaucher disease, perinatal lethal to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type III 231000; Gaucher disease, type IIIC, 231005
Dystonia, chorea or related movement disorder, childhood onset v0.210 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Friedreich ataxia; Friedreich ataxia with retained reflexes to Friedreich ataxia; Friedreich ataxia with retained reflexes, 229300
Dystonia, chorea or related movement disorder, childhood onset v0.209 FBXO7 Louise Daugherty Phenotypes for gene: FBXO7 were changed from juvenile parkinsonism; Dystonia to Parkinson disease 15, autosomal recessive, 260300; juvenile parkinsonism; Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.208 ECHS1 Louise Daugherty Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277
Dystonia, chorea or related movement disorder, childhood onset v0.207 DLD Louise Daugherty Phenotypes for gene: DLD were changed from Dihydrolipoamide dehydrogenase deficiency to Dihydrolipoamide dehydrogenase deficiency, 246900
Dystonia, chorea or related movement disorder, childhood onset v0.206 DCAF17 Louise Daugherty Phenotypes for gene: DCAF17 were changed from Dystonia; Woodhouse-Sakati syndrome to Dystonia; Woodhouse-Sakati syndrome, 241080
Dystonia, chorea or related movement disorder, childhood onset v0.205 CSTB Louise Daugherty Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800
Dystonia, chorea or related movement disorder, childhood onset v0.205 CSTB Louise Daugherty Phenotypes for gene: CSTB were changed from microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 to microcephaly and severe dyskinesia; Epilepsy, progressive myoclonic 1A, 254800
Dystonia, chorea or related movement disorder, childhood onset v0.204 COL6A3 Louise Daugherty Phenotypes for gene: COL6A3 were changed from Dystonia 27 to Dystonia 27, 616411
Dystonia, chorea or related movement disorder, childhood onset v0.203 CLPB Louise Daugherty Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Dystonia, chorea or related movement disorder, childhood onset v0.202 CLN5 Louise Daugherty Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, 256731
Dystonia, chorea or related movement disorder, childhood onset v0.201 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, 204200
Dystonia, chorea or related movement disorder, childhood onset v0.200 C19orf12 Louise Daugherty Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to neurodegeneration with brain iron accumulation-4, 614298; mitochondrial membrane protein-associated neurodegeneration; Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.199 ATM Louise Daugherty Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Dystonia; Ataxia telangiectasia, 208900
Dystonia, chorea or related movement disorder, childhood onset v0.198 APTX Louise Daugherty Phenotypes for gene: APTX were changed from Dystonia to Dystonia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Dystonia, chorea or related movement disorder, childhood onset v0.197 WWOX Louise Daugherty Mode of inheritance for gene: WWOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.196 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from to Spinocerebellar ataxia, autosomal recessive 12, 614322
Dystonia, chorea or related movement disorder, childhood onset v0.195 WFS1 Louise Daugherty Mode of inheritance for gene: WFS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.194 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Dystonia, chorea or related movement disorder, childhood onset v0.193 TTBK2 Louise Daugherty Mode of inheritance for gene: TTBK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.192 TTBK2 Louise Daugherty Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, 604432
Dystonia, chorea or related movement disorder, childhood onset v0.191 TPP1 Louise Daugherty Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.190 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from to Spinocerebellar ataxia, autosomal recessive 7, 609270
Dystonia, chorea or related movement disorder, childhood onset v0.189 TMEM240 Louise Daugherty Mode of inheritance for gene: TMEM240 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.188 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, 607454
Dystonia, chorea or related movement disorder, childhood onset v0.187 TGM6 Louise Daugherty Mode of inheritance for gene: TGM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.186 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, 613908
Dystonia, chorea or related movement disorder, childhood onset v0.185 STUB1 Louise Daugherty Mode of inheritance for gene: STUB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.184 STUB1 Louise Daugherty Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, 615768
Dystonia, chorea or related movement disorder, childhood onset v0.183 SPG7 Louise Daugherty Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.182 SPG7 Louise Daugherty Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, 607259
Dystonia, chorea or related movement disorder, childhood onset v0.181 SNX14 Louise Daugherty Mode of inheritance for gene: SNX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.180 SNX14 Louise Daugherty Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20, 616354
Dystonia, chorea or related movement disorder, childhood onset v0.179 SIL1 Louise Daugherty Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.178 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Dystonia, chorea or related movement disorder, childhood onset v0.177 SACS Louise Daugherty Mode of inheritance for gene: SACS was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.176 SACS Louise Daugherty Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type, 270550
Dystonia, chorea or related movement disorder, childhood onset v0.175 PRKCG Louise Daugherty Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.174 PRKCG Louise Daugherty Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, 605361
Dystonia, chorea or related movement disorder, childhood onset v0.173 PPP2R2B Louise Daugherty Mode of inheritance for gene: PPP2R2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.172 PPP2R2B Louise Daugherty Phenotypes for gene: PPP2R2B were changed from to Spinocerebellar ataxia 12, 604326
Dystonia, chorea or related movement disorder, childhood onset v0.171 PDYN Louise Daugherty Phenotypes for gene: PDYN were changed from to Spinocerebellar ataxia 23, 610245
Dystonia, chorea or related movement disorder, childhood onset v0.170 NOP56 Louise Daugherty Mode of inheritance for gene: NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.169 NOP56 Louise Daugherty Phenotypes for gene: NOP56 were changed from to Spinocerebellar ataxia 36, 614153
Dystonia, chorea or related movement disorder, childhood onset v0.168 KCND3 Louise Daugherty Mode of inheritance for gene: KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.167 KCND3 Louise Daugherty Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, 607346
Dystonia, chorea or related movement disorder, childhood onset v0.166 KCNC3 Louise Daugherty Mode of inheritance for gene: KCNC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.165 KCNC3 Louise Daugherty Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, 605259
Dystonia, chorea or related movement disorder, childhood onset v0.164 ITPR1 Louise Daugherty Mode of inheritance for gene: ITPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.163 ITPR1 Louise Daugherty Phenotypes for gene: ITPR1 were changed from to Spinocerebellar ataxia 15, 606658
Dystonia, chorea or related movement disorder, childhood onset v0.162 GRM1 Louise Daugherty Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44, 617691; Spinocerebellar ataxia, autosomal recessive 13, 614831
Dystonia, chorea or related movement disorder, childhood onset v0.161 GRM1 Louise Daugherty Mode of inheritance for gene: GRM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.160 GRID2 Louise Daugherty Mode of inheritance for gene: GRID2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.159 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18, 616204
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Spinocerebellar ataxia, autosomal recessive 18 to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.158 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from to Spinocerebellar ataxia, autosomal recessive 18
Dystonia, chorea or related movement disorder, childhood onset v0.157 FGF14 Louise Daugherty Mode of inheritance for gene: FGF14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.156 FGF14 Louise Daugherty Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, 609307
Dystonia, chorea or related movement disorder, childhood onset v0.155 ELOVL4 Louise Daugherty Mode of inheritance for gene: ELOVL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.154 ELOVL4 Louise Daugherty Phenotypes for gene: ELOVL4 were changed from to Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Dystonia, chorea or related movement disorder, childhood onset v0.153 DNAJC5 Louise Daugherty Mode of inheritance for gene: DNAJC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.152 DNAJC5 Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Dystonia, chorea or related movement disorder, childhood onset v0.151 DMPK Louise Daugherty Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.150 DMPK Louise Daugherty Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, 16090
Dystonia, chorea or related movement disorder, childhood onset v0.149 CWF19L1 Louise Daugherty Mode of inheritance for gene: CWF19L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.148 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Dystonia, chorea or related movement disorder, childhood onset v0.147 CTSD Louise Daugherty Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.146 CTSD Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Dystonia, chorea or related movement disorder, childhood onset v0.145 CLN8 Louise Daugherty Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.144 CLN8 Louise Daugherty Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, 600143
Dystonia, chorea or related movement disorder, childhood onset v0.143 CA8 Louise Daugherty Publications for gene: CA8 were set to
Dystonia, chorea or related movement disorder, childhood onset v0.142 CA8 Louise Daugherty Mode of inheritance for gene: CA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.141 CA8 Louise Daugherty Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Dystonia, chorea or related movement disorder, childhood onset v0.140 ATXN7 Louise Daugherty Mode of inheritance for gene: ATXN7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.139 ATXN7 Louise Daugherty Phenotypes for gene: ATXN7 were changed from to Spinocerebellar ataxia 7, 164500
Dystonia, chorea or related movement disorder, childhood onset v0.138 ATXN10 Louise Daugherty Mode of inheritance for gene: ATXN10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.137 ATXN10 Louise Daugherty Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, 603516
Dystonia, chorea or related movement disorder, childhood onset v0.136 ATXN1 Louise Daugherty Mode of inheritance for gene: ATXN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.135 ATXN1 Louise Daugherty Phenotypes for gene: ATXN1 were changed from to Spinocerebellar ataxia 1, 164400
Dystonia, chorea or related movement disorder, childhood onset v0.134 ATCAY Louise Daugherty Mode of inheritance for gene: ATCAY was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.133 ATCAY Louise Daugherty Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, 601238
Dystonia, chorea or related movement disorder, childhood onset v0.132 ANO10 Louise Daugherty Mode of inheritance for gene: ANO10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.131 ANO10 Louise Daugherty Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10, 613728
Dystonia, chorea or related movement disorder, childhood onset v0.130 ACSF3 Louise Daugherty Mode of inheritance for gene: ACSF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.129 ACSF3 Louise Daugherty Phenotypes for gene: ACSF3 were changed from to Combined malonic and methylmalonic aciduria, 614265
Dystonia, chorea or related movement disorder, childhood onset v0.128 ABCB7 Louise Daugherty Mode of inheritance for gene: ABCB7 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, childhood onset v0.127 ABCB7 Louise Daugherty Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, 301310
Dystonia, chorea or related movement disorder, childhood onset v0.126 AASS Louise Daugherty Mode of inheritance for gene: AASS was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.125 AASS Louise Daugherty Phenotypes for gene: AASS were changed from to Hyperlysinemia; Saccharopinuria, 268700
Dystonia, chorea or related movement disorder, childhood onset v0.124 AAAS Louise Daugherty Mode of inheritance for gene: AAAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.123 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Dystonia, chorea or related movement disorder, childhood onset v0.122 VAMP2 Louise Daugherty Publications for gene: VAMP2 were set to
Dystonia, chorea or related movement disorder, childhood onset v0.121 VAMP2 Louise Daugherty changed review comment from: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input.; to: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities
Dystonia, chorea or related movement disorder, childhood onset v0.121 VAMP2 Louise Daugherty Added comment: Comment on phenotypes: Phenotype from Salpietro et al. Am J Hum Genet. 2019 Apr 4;104(4):721-730) de novo mutations in 5 unrelated individuals phenotype neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. More severe phenotype includes additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. ?Better on intellectual disability or neurodevelopmental panel. Needs clinical input.
Dystonia, chorea or related movement disorder, childhood onset v0.121 VAMP2 Louise Daugherty Phenotypes for gene: VAMP2 were changed from to axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
Dystonia, chorea or related movement disorder, childhood onset v0.120 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5 304340 to Dystonia; Mental retardation, X-linked syndromic 5, 304340
Dystonia, chorea or related movement disorder, childhood onset v0.119 GNAL Louise Daugherty changed review comment from: Comment on list classification: downgraded until Specialist Test Group review - need more evidence; to: Comment on list classification: downgraded until Specialist Test Group review rating in view of age of onset Average age at onset 31 years (range 7 to 54)

Monoallelic mutations have been associated with adult-onset cranio-cervical dystonia - PMID: 23222958 (more than 2 families with adult onset of focal dystonia (plus plus neck), which often progresses to involve other regions), 23449625 (4 families with reduced penetrance, adult onset of focal dystonia), 23759320 (2 chinese families and sporadic adult onset generalized dystonia), 24151159 (3 sporadic cases with adult-onset dystonia involving the neck and or face), 24408567 (1 sporadic case adult-onset dystonia), 24535567 (2 families with craniocervical dystonia), 24729450 (1 sporadic cervical dystonia, DE NOVO), 25382112 (2 sporadic with dystonia) plus other similar publications. ONE BIALLELIC MUTATION described in 27222887 1 girl from cons parents with generalised dystonia and mild ID.
Dystonia, chorea or related movement disorder, childhood onset v0.119 GNAL Louise Daugherty Classified gene: GNAL as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.119 GNAL Louise Daugherty Added comment: Comment on list classification: downgraded until Specialist Test Group review - need more evidence
Dystonia, chorea or related movement disorder, childhood onset v0.119 GNAL Louise Daugherty Gene: gnal has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.118 ZSWIM6 Louise Daugherty Phenotypes for gene: ZSWIM6 were changed from Acromelic frontonasal dysostosis 603671 to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865
Dystonia, chorea or related movement disorder, childhood onset v0.117 VAMP1 Louise Daugherty Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, 108600
Dystonia, chorea or related movement disorder, childhood onset v0.116 TAF1 Louise Daugherty Added comment: Comment on phenotypes: NB: complex mutation
Dystonia, chorea or related movement disorder, childhood onset v0.116 TAF1 Louise Daugherty Phenotypes for gene: TAF1 were changed from (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250
Dystonia, chorea or related movement disorder, childhood onset v0.115 SLC6A3 Louise Daugherty Phenotypes for gene: SLC6A3 were changed from {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135
Dystonia, chorea or related movement disorder, childhood onset v0.114 PDGFB Louise Daugherty Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, 615483
Dystonia, chorea or related movement disorder, childhood onset v0.113 OCLN Louise Daugherty Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Band-like calcification with simplified gyration and polymicrogyria, 251290
Dystonia, chorea or related movement disorder, childhood onset v0.112 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 to Hex A pseudodeficiency, 272800 AR; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Dystonia, chorea or related movement disorder, childhood onset v0.111 ADCY5 Louise Daugherty Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 to Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia, 606703
Dystonia, chorea or related movement disorder, childhood onset v0.110 FOXRED1 Louise Daugherty Added comment: Comment on mode of inheritance: changed from unknown to biallelic
Dystonia, chorea or related movement disorder, childhood onset v0.110 FOXRED1 Louise Daugherty Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.109 ACOX1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotype from OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.109 ACOX1 Louise Daugherty Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, 264470
Hereditary neuropathy v1.366 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Hereditary neuropathy v1.365 MTTP Louise Daugherty Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
Hereditary neuropathy v1.364 SCN10A Louise Daugherty Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, 615551
Hereditary neuropathy v1.363 SYT2 Louise Daugherty Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic to Myasthenic syndrome, congenital, 7, presynaptic, 616040
Hereditary neuropathy v1.362 TRPA1 Louise Daugherty Phenotypes for gene: TRPA1 were changed from to Episodic pain syndrome, familial, 1, 615040
Hereditary neuropathy v1.361 TRPA1 Louise Daugherty Mode of inheritance for gene: TRPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.103 SYT2 Louise Daugherty Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.360 SYT2 Louise Daugherty Mode of inheritance for gene: SYT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.359 SCN10A Louise Daugherty Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.358 PEX10 Louise Daugherty Mode of inheritance for gene: PEX10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.357 PEX10 Louise Daugherty Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.356 MTTP Louise Daugherty Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.355 FXN Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.354 ATP1A1 Louise Daugherty Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy v1.353 ZFYVE26 Louise Daugherty Source Expert Review Green was added to ZFYVE26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 XRCC1 Louise Daugherty Source Expert Review Amber was added to XRCC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 XPA Louise Daugherty Source Expert Review Green was added to XPA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 XK Louise Daugherty Source Expert Review Green was added to XK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 VRK1 Louise Daugherty Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 VPS13A Louise Daugherty Source Expert Review Green was added to VPS13A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 VCP Louise Daugherty Source Expert Review Amber was added to VCP.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 TWNK Louise Daugherty Source Expert Review Amber was added to TWNK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 TTPA Louise Daugherty Source Expert Review Green was added to TTPA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 TRPA1 Louise Daugherty Source Expert Review Green was added to TRPA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 TRIM2 Louise Daugherty Source Expert Review Green was added to TRIM2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SYT2 Louise Daugherty Source Expert Review Green was added to SYT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SURF1 Louise Daugherty Source Expert Review Green was added to SURF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SUCLA2 Louise Daugherty Source Expert Review Amber was added to SUCLA2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 SPG7 Louise Daugherty Source Expert Review Amber was added to SPG7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 SOX10 Louise Daugherty Source Expert Review Green was added to SOX10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SLC5A7 Louise Daugherty Source Expert Review Green was added to SLC5A7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SLC25A46 Louise Daugherty Source Expert Review Green was added to SLC25A46.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SLC25A19 Louise Daugherty Source Expert Review Green was added to SLC25A19.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SCYL1 Louise Daugherty Source Expert Review Amber was added to SCYL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 SCN10A Louise Daugherty Source Expert Review Green was added to SCN10A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 SCARB2 Louise Daugherty Source Expert Review Amber was added to SCARB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 SBF1 Louise Daugherty Source Expert Review Green was added to SBF1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PTRH2 Louise Daugherty Source Expert Review Amber was added to PTRH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PTPN11 Louise Daugherty Source Expert Review Green was added to PTPN11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PTEN Louise Daugherty Source Expert Review Amber was added to PTEN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PRKCG Louise Daugherty Source Expert Review Amber was added to PRKCG.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PPOX Louise Daugherty Source Expert Review Green was added to PPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 POLR3A Louise Daugherty Source Expert Review Green was added to POLR3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PNPLA6 Louise Daugherty Source Expert Review Amber was added to PNPLA6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PNKP Louise Daugherty Source Expert Review Amber was added to PNKP.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PMP2 Louise Daugherty Source Expert Review Green was added to PMP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PMM2 Louise Daugherty Source Expert Review Green was added to PMM2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PLP1 Louise Daugherty Source Expert Review Amber was added to PLP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 PEX10 Louise Daugherty Source Expert Review Green was added to PEX10.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 PDYN Louise Daugherty Source Expert Review Amber was added to PDYN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 OPA3 Louise Daugherty Source Expert Review Green was added to OPA3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 OPA1 Louise Daugherty Source Expert Review Green was added to OPA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 NEFH Louise Daugherty Source Expert Review Green was added to NEFH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 NAGA Louise Daugherty Source Expert Review Green was added to NAGA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 MYH14 Louise Daugherty Source Expert Review Amber was added to MYH14.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 MTTP Louise Daugherty Source Expert Review Green was added to MTTP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 MT-TL1 Louise Daugherty Source Expert Review Green was added to MT-TL1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 MT-RNR1 Louise Daugherty Source Expert Review Green was added to MT-RNR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 MMACHC Louise Daugherty Source Expert Review Green was added to MMACHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 MCM3AP Louise Daugherty Source Expert Review Green was added to MCM3AP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 LYST Louise Daugherty Source Expert Review Green was added to LYST.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 KCNA2 Louise Daugherty Source Expert Review Green was added to KCNA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 IARS2 Louise Daugherty Source Expert Review Green was added to IARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 HMBS Louise Daugherty Source Expert Review Green was added to HMBS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 HADHB Louise Daugherty Source Expert Review Green was added to HADHB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 HADHA Louise Daugherty Source Expert Review Green was added to HADHA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 GNB4 Louise Daugherty Source Expert Review Green was added to GNB4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 GJC2 Louise Daugherty Source Expert Review Green was added to GJC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 GBA2 Louise Daugherty Source Expert Review Green was added to GBA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 GALC Louise Daugherty Source Expert Review Green was added to GALC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 FXN Louise Daugherty Source Expert Review Green was added to FXN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 FLVCR1 Louise Daugherty Source Expert Review Green was added to FLVCR1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 FBXO38 Louise Daugherty Source Expert Review Amber was added to FBXO38.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 FAM126A Louise Daugherty Source Expert Review Green was added to FAM126A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 FAH Louise Daugherty Source Expert Review Green was added to FAH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ETFDH Louise Daugherty Source Expert Review Amber was added to ETFDH.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 ERCC8 Louise Daugherty Source Expert Review Green was added to ERCC8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ERCC6 Louise Daugherty Source Expert Review Green was added to ERCC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 DST Louise Daugherty Source Expert Review Green was added to DST.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 DRP2 Louise Daugherty Source Expert Review Amber was added to DRP2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 DNAJC3 Louise Daugherty Source Expert Review Amber was added to DNAJC3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 DEGS1 Louise Daugherty Source Expert Review Green was added to DEGS1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 DCTN1 Louise Daugherty Source Expert Review Green was added to DCTN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 DARS2 Louise Daugherty Source Expert Review Green was added to DARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 CYP27A1 Louise Daugherty Source Expert Review Green was added to CYP27A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 CTDP1 Louise Daugherty Source Expert Review Green was added to CTDP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 CPOX Louise Daugherty Source Expert Review Green was added to CPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 COA7 Louise Daugherty Source Expert Review Green was added to COA7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 CNTNAP1 Louise Daugherty Source Expert Review Green was added to CNTNAP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 CD59 Louise Daugherty Source Expert Review Green was added to CD59.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 BCKDHB Louise Daugherty Source Expert Review Green was added to BCKDHB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 BAG3 Louise Daugherty Source Expert Review Green was added to BAG3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 B4GALNT1 Louise Daugherty Source Expert Review Green was added to B4GALNT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ATP1A1 Louise Daugherty Source Expert Review Green was added to ATP1A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ATL3 Louise Daugherty Source Expert Review Amber was added to ATL3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 ARSA Louise Daugherty Source Expert Review Green was added to ARSA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ARHGEF10 Louise Daugherty Source Expert Review Amber was added to ARHGEF10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 APTX Louise Daugherty Source Expert Review Green was added to APTX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 APOA1 Louise Daugherty Source Expert Review Amber was added to APOA1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 AP1S1 Louise Daugherty Source Expert Review Amber was added to AP1S1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 AGXT Louise Daugherty Source Expert Review Amber was added to AGXT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.353 AGTPBP1 Louise Daugherty Source Expert Review Green was added to AGTPBP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.353 ABHD12 Louise Daugherty Source Expert Review Green was added to ABHD12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary neuropathy v1.352 ZFYVE26 Louise Daugherty edited their review of gene: ZFYVE26: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 XRCC1 Louise Daugherty commented on gene: XRCC1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 XPA Louise Daugherty edited their review of gene: XPA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 XK Louise Daugherty edited their review of gene: XK: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 WARS Louise Daugherty edited their review of gene: WARS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 VRK1 Louise Daugherty edited their review of gene: VRK1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 VPS13A Louise Daugherty edited their review of gene: VPS13A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 VCP Louise Daugherty commented on gene: VCP: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 TYMP Louise Daugherty edited their review of gene: TYMP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 TWNK Louise Daugherty commented on gene: TWNK: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 TUBB3 Louise Daugherty edited their review of gene: TUBB3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 TTPA Louise Daugherty edited their review of gene: TTPA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 TRPA1 Louise Daugherty edited their review of gene: TRPA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 TRIM2 Louise Daugherty edited their review of gene: TRIM2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SYT2 Louise Daugherty edited their review of gene: SYT2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SURF1 Louise Daugherty edited their review of gene: SURF1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SUCLA2 Louise Daugherty commented on gene: SUCLA2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 SPG7 Louise Daugherty commented on gene: SPG7: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 SPAST Louise Daugherty edited their review of gene: SPAST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SOX10 Louise Daugherty edited their review of gene: SOX10: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SLC5A7 Louise Daugherty edited their review of gene: SLC5A7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SLC25A46 Louise Daugherty edited their review of gene: SLC25A46: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SLC25A19 Louise Daugherty edited their review of gene: SLC25A19: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SLC12A6 Louise Daugherty edited their review of gene: SLC12A6: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SETX Louise Daugherty edited their review of gene: SETX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SCYL1 Louise Daugherty commented on gene: SCYL1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 SCN10A Louise Daugherty edited their review of gene: SCN10A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SCARB2 Louise Daugherty commented on gene: SCARB2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 SBF1 Louise Daugherty edited their review of gene: SBF1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 SACS Louise Daugherty edited their review of gene: SACS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PTRH2 Louise Daugherty commented on gene: PTRH2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PTPN11 Louise Daugherty edited their review of gene: PTPN11: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PTEN Louise Daugherty commented on gene: PTEN: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PRNP Louise Daugherty edited their review of gene: PRNP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PRKCG Louise Daugherty commented on gene: PRKCG: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PPOX Louise Daugherty edited their review of gene: PPOX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 POLR3A Louise Daugherty edited their review of gene: POLR3A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 POLG Louise Daugherty edited their review of gene: POLG: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PNPLA6 Louise Daugherty commented on gene: PNPLA6: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PNKP Louise Daugherty commented on gene: PNKP: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PMP2 Louise Daugherty edited their review of gene: PMP2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PMM2 Louise Daugherty edited their review of gene: PMM2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PLP1 Louise Daugherty commented on gene: PLP1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PHYH Louise Daugherty edited their review of gene: PHYH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PEX7 Louise Daugherty edited their review of gene: PEX7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PEX10 Louise Daugherty edited their review of gene: PEX10: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 PDYN Louise Daugherty commented on gene: PDYN: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 PDHA1 Louise Daugherty edited their review of gene: PDHA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 OPA3 Louise Daugherty edited their review of gene: OPA3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 OPA1 Louise Daugherty edited their review of gene: OPA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 NEFH Louise Daugherty edited their review of gene: NEFH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 NAGA Louise Daugherty edited their review of gene: NAGA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 MYH14 Louise Daugherty commented on gene: MYH14: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 MTTP Louise Daugherty edited their review of gene: MTTP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 MT-TL1 Louise Daugherty edited their review of gene: MT-TL1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 MT-RNR1 Louise Daugherty edited their review of gene: MT-RNR1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 MMACHC Louise Daugherty edited their review of gene: MMACHC: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 MCM3AP Louise Daugherty edited their review of gene: MCM3AP: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 LYST Louise Daugherty edited their review of gene: LYST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 KCNA2 Louise Daugherty edited their review of gene: KCNA2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 IARS2 Louise Daugherty edited their review of gene: IARS2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 HMBS Louise Daugherty edited their review of gene: HMBS: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 HADHB Louise Daugherty edited their review of gene: HADHB: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 HADHA Louise Daugherty edited their review of gene: HADHA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GNB4 Louise Daugherty edited their review of gene: GNB4: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GLA Louise Daugherty edited their review of gene: GLA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GJC2 Louise Daugherty edited their review of gene: GJC2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GBA2 Louise Daugherty edited their review of gene: GBA2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GAN Louise Daugherty edited their review of gene: GAN: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 GALC Louise Daugherty edited their review of gene: GALC: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 FXN Louise Daugherty edited their review of gene: FXN: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 FLVCR1 Louise Daugherty edited their review of gene: FLVCR1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 FBXO38 Louise Daugherty commented on gene: FBXO38: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 FAM126A Louise Daugherty edited their review of gene: FAM126A: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 FAH Louise Daugherty edited their review of gene: FAH: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ETFDH Louise Daugherty commented on gene: ETFDH: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 ERCC8 Louise Daugherty edited their review of gene: ERCC8: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ERCC6 Louise Daugherty edited their review of gene: ERCC6: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ELP1 Louise Daugherty edited their review of gene: ELP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 DST Louise Daugherty edited their review of gene: DST: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 DRP2 Louise Daugherty commented on gene: DRP2: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 DNAJC3 Louise Daugherty commented on gene: DNAJC3: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 DNAJB2 Louise Daugherty edited their review of gene: DNAJB2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 DEGS1 Louise Daugherty edited their review of gene: DEGS1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 DCTN1 Louise Daugherty edited their review of gene: DCTN1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 DARS2 Louise Daugherty edited their review of gene: DARS2: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 CYP27A1 Louise Daugherty edited their review of gene: CYP27A1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 CTDP1 Louise Daugherty edited their review of gene: CTDP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 CPOX Louise Daugherty edited their review of gene: CPOX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 COA7 Louise Daugherty edited their review of gene: COA7: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 CNTNAP1 Louise Daugherty edited their review of gene: CNTNAP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 CD59 Louise Daugherty edited their review of gene: CD59: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 C12orf65 Louise Daugherty edited their review of gene: C12orf65: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 BCKDHB Louise Daugherty edited their review of gene: BCKDHB: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 BAG3 Louise Daugherty edited their review of gene: BAG3: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 B4GALNT1 Louise Daugherty edited their review of gene: B4GALNT1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ATP1A1 Louise Daugherty edited their review of gene: ATP1A1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ATM Louise Daugherty edited their review of gene: ATM: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ATL3 Louise Daugherty commented on gene: ATL3: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 ARSA Louise Daugherty edited their review of gene: ARSA: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ARHGEF10 Louise Daugherty commented on gene: ARHGEF10: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.352 APTX Louise Daugherty edited their review of gene: APTX: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 APOA1 Louise Daugherty edited their review of gene: APOA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
Hereditary neuropathy v1.352 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
Hereditary neuropathy v1.352 AGXT Louise Daugherty edited their review of gene: AGXT: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: AMBER
Hereditary neuropathy v1.352 AGTPBP1 Louise Daugherty edited their review of gene: AGTPBP1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Hereditary neuropathy v1.352 ABCA1 Louise Daugherty edited their review of gene: ABCA1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN
Arthrogryposis v2.108 TOR1A Julie Vogt gene: TOR1A was added
gene: TOR1A was added to Arthrogryposis. Sources: Expert list
Mode of inheritance for gene: TOR1A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TOR1A were set to PMID: 30244176, 29053766, 28516161
Phenotypes for gene: TOR1A were set to arthrogryposis with developmental delay, strabismus and tremor; dystonia
Penetrance for gene: TOR1A were set to unknown
Review for gene: TOR1A was set to GREEN
gene: TOR1A was marked as current diagnostic
Added comment: Sources: Expert list
Arthrogryposis v2.108 DYNC1H1 Julie Vogt edited their review of gene: DYNC1H1: Changed phenotypes: arthrogryposis, spinal muscular atrophy with lower extremity predominance, neuronal migration abnormalities
Hereditary neuropathy or pain disorder v0.102 TRPA1 Louise Daugherty Mode of inheritance for gene: TRPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.101 TRPA1 Louise Daugherty Phenotypes for gene: TRPA1 were changed from to Episodic pain syndrome, familial, 1, 615040
Hereditary neuropathy or pain disorder v0.100 PEX10 Louise Daugherty Mode of inheritance for gene: PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.99 MTTP Louise Daugherty Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.98 MTTP Louise Daugherty Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
Hereditary neuropathy or pain disorder v0.97 FXN Louise Daugherty Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Hereditary neuropathy or pain disorder v0.96 FXN Louise Daugherty Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.95 SCN10A Louise Daugherty Mode of inheritance for gene: SCN10A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.94 SCN10A Louise Daugherty Phenotypes for gene: SCN10A were changed from to Episodic pain syndrome, familial, 2, 615551
Hereditary neuropathy or pain disorder v0.93 ATP1A1 Louise Daugherty Mode of inheritance for gene: ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v0.92 FBXO38 Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?
Hereditary neuropathy or pain disorder v0.92 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.92 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.91 DNAJB2 Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906); to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906) recessive CMT/ HMN.
Hereditary neuropathy or pain disorder v0.91 DNAJB2 Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases. ; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases (PMID: 28018906)
Hereditary neuropathy or pain disorder v0.91 DNAJB2 Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ New evidence/re-evaluation of evidence - promotion to Green? Reviewed initially as Amber due to single reported variant in 2016, however now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases.
Hereditary neuropathy or pain disorder v0.91 PPOX Louise Daugherty edited their review of gene: PPOX: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.91 HMBS Louise Daugherty edited their review of gene: HMBS: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.91 AR_CAG Louise Daugherty Classified STR: AR_CAG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.91 AR_CAG Louise Daugherty Str: ar_cag has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.90 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.90 AR_CAG Louise Daugherty STR: AR_CAG was added
STR: AR_CAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Review for STR: AR_CAG was set to GREEN
Added comment: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green.
Sources: Expert Review
Hereditary neuropathy or pain disorder v0.89 PDK3 Louise Daugherty Classified gene: PDK3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.89 PDK3 Louise Daugherty Gene: pdk3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.88 DGUOK Louise Daugherty Classified gene: DGUOK as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.88 DGUOK Louise Daugherty Gene: dguok has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.87 VCP Louise Daugherty Classified gene: VCP as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.87 VCP Louise Daugherty Gene: vcp has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.86 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP
Hereditary neuropathy or pain disorder v0.86 XRCC1 Louise Daugherty commented on gene: XRCC1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: SCA26, 2 cases in OMIM
Hereditary neuropathy or pain disorder v0.86 XPA Louise Daugherty commented on gene: XPA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: XP/de Sanctis-Cacchione syndrome - does only this form of XP have neurological features?
Hereditary neuropathy or pain disorder v0.86 XK Louise Daugherty commented on gene: XK: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: McLeod syndrome, note adult onset
Hereditary neuropathy or pain disorder v0.86 VPS13A Louise Daugherty commented on gene: VPS13A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Choreoacanthocytosis
Hereditary neuropathy or pain disorder v0.86 VCP Louise Daugherty edited their review of gene: VCP: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: ALS+/-FTD; unclear whether also causes CMT - Amber? Very rare but I think include as Green as reasonable evidence for distal myopathy/neuropathy; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.86 TWNK Louise Daugherty commented on gene: TWNK: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: mitochondrial, comment that neuropathy is not common
Hereditary neuropathy or pain disorder v0.86 TTPA Louise Daugherty commented on gene: TTPA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: ataxia with vitamin E deficiency More likely to present as ataxia on ataxia panel
Hereditary neuropathy or pain disorder v0.86 TRPA1 Louise Daugherty commented on gene: TRPA1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Episodic pain syndrome - within scope of panel? Only 1 family in OMIM Agree not enough evidence
Hereditary neuropathy or pain disorder v0.86 SURF1 Louise Daugherty commented on gene: SURF1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - mitochondrial / Broader phenotype: Leigh syndrome with neuropathy
Hereditary neuropathy or pain disorder v0.86 SUCLA2 Louise Daugherty commented on gene: SUCLA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Leigh-like syndrome, neuropathy 'in a minority of patients'
Hereditary neuropathy or pain disorder v0.86 SPG7 Louise Daugherty commented on gene: SPG7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype submitted by Alex Rossor, but 2 reviews say no clear association with neuropathy
Hereditary neuropathy or pain disorder v0.86 SPAST Louise Daugherty commented on gene: SPAST: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype (HSP)
Hereditary neuropathy or pain disorder v0.86 SOX10 Louise Daugherty commented on gene: SOX10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH (Shah-Waardenburg syndrome, neurologic variant)
Hereditary neuropathy or pain disorder v0.86 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.86 SLC25A19 Louise Daugherty commented on gene: SLC25A19: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - epilepsy/encephalopathy with neuropathy / Broader phenotype: episodic encephalopathy with progressive axonal neuropathy; common mutation in Amish and 1 other unrelated family in OMIM
Hereditary neuropathy or pain disorder v0.86 SCYL1 Louise Daugherty commented on gene: SCYL1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Overlap: SCA21 - 2 cases in OMIM, sufficient evidence?
Hereditary neuropathy or pain disorder v0.86 SCN10A Louise Daugherty edited their review of gene: SCN10A: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Episodic pain syndrome - within scope of panel? 2 cases het missense variants (1 segregating in 2 family members) and functional evidence in OMIM - sufficient for Green if within scope? If SCN9A is on the panel then this and similar genes should be on too. Recommend Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.86 SCARB2 Louise Daugherty commented on gene: SCARB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: epilepsy and renal failure, 'rarely' sensorimotor neuropathy
Hereditary neuropathy or pain disorder v0.86 PTRH2 Louise Daugherty commented on gene: PTRH2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broad phenotype but limited evidence? Only 2 cases in OMIM
Hereditary neuropathy or pain disorder v0.86 PTPN11 Louise Daugherty commented on gene: PTPN11: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broad phenotype - Noonan syndrome - is hypertrophic neuropathy an important feature?
Hereditary neuropathy or pain disorder v0.86 PTEN Louise Daugherty commented on gene: PTEN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broad phenotype - is neuropathy a common feature?
Hereditary neuropathy or pain disorder v0.86 PRKCG Louise Daugherty commented on gene: PRKCG: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Neuropathy rare feature - Amber
Hereditary neuropathy or pain disorder v0.86 POLR3A Louise Daugherty commented on gene: POLR3A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - ataxia with neuropathy / Broader phenotype: spastic ataxia with abnormal nerve conduction in 8/14 cases
Hereditary neuropathy or pain disorder v0.86 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Natalie no evidence of clear association with neuropathy
Hereditary neuropathy or pain disorder v0.86 PNKP Louise Daugherty commented on gene: PNKP: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
Hereditary neuropathy or pain disorder v0.86 PMM2 Louise Daugherty commented on gene: PMM2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: CDG1a
Hereditary neuropathy or pain disorder v0.86 PLP1 Louise Daugherty commented on gene: PLP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Pelizaeus-Merbacher/Spastic paraplegia 2 - is neuropathy a feature?
Hereditary neuropathy or pain disorder v0.86 PEX10 Louise Daugherty commented on gene: PEX10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Zellweger, is neuropathy only associated with this gene?
Hereditary neuropathy or pain disorder v0.86 PDYN Louise Daugherty commented on gene: PDYN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: SCA with mild neuropathy
Hereditary neuropathy or pain disorder v0.86 OPA3 Louise Daugherty commented on gene: OPA3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: 3-methylglutaconic aciduria type III
Hereditary neuropathy or pain disorder v0.86 OPA1 Louise Daugherty commented on gene: OPA1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - mitochondrial / Broader mitochondrial phenotype
Hereditary neuropathy or pain disorder v0.86 NAGA Louise Daugherty commented on gene: NAGA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Schindler disease
Hereditary neuropathy or pain disorder v0.85 SCN10A Louise Daugherty Classified gene: SCN10A as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.85 SCN10A Louise Daugherty Gene: scn10a has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.84 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 XRCC1 Louise Daugherty commented on gene: XRCC1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 XPA Louise Daugherty commented on gene: XPA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 XK Louise Daugherty commented on gene: XK: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 VPS13A Louise Daugherty commented on gene: VPS13A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 VCP Louise Daugherty commented on gene: VCP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 TWNK Louise Daugherty commented on gene: TWNK: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 TTPA Louise Daugherty commented on gene: TTPA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 TRPA1 Louise Daugherty commented on gene: TRPA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SURF1 Louise Daugherty commented on gene: SURF1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SUCLA2 Louise Daugherty commented on gene: SUCLA2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SPG7 Louise Daugherty commented on gene: SPG7: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SPAST Louise Daugherty commented on gene: SPAST: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SOX10 Louise Daugherty commented on gene: SOX10: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SLC25A46 Louise Daugherty commented on gene: SLC25A46: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SLC25A19 Louise Daugherty commented on gene: SLC25A19: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SCYL1 Louise Daugherty commented on gene: SCYL1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SCN10A Louise Daugherty commented on gene: SCN10A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 SCARB2 Louise Daugherty commented on gene: SCARB2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PTRH2 Louise Daugherty commented on gene: PTRH2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PTPN11 Louise Daugherty commented on gene: PTPN11: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PTEN Louise Daugherty commented on gene: PTEN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PRKCG Louise Daugherty commented on gene: PRKCG: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 POLR3A Louise Daugherty commented on gene: POLR3A: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PNPLA6 Louise Daugherty commented on gene: PNPLA6: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PNKP Louise Daugherty commented on gene: PNKP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PMM2 Louise Daugherty commented on gene: PMM2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PLP1 Louise Daugherty commented on gene: PLP1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PEX10 Louise Daugherty commented on gene: PEX10: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 PDYN Louise Daugherty commented on gene: PDYN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 OPA3 Louise Daugherty commented on gene: OPA3: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 OPA1 Louise Daugherty commented on gene: OPA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.84 NAGA Louise Daugherty commented on gene: NAGA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.83 SLC25A19 Louise Daugherty Deleted their comment
Hereditary neuropathy or pain disorder v0.83 ZFYVE26 Louise Daugherty Source Expert Review Amber was added to ZFYVE26.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 XRCC1 Louise Daugherty Source Expert Review Amber was added to XRCC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 XPA Louise Daugherty Source Expert Review Amber was added to XPA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 XK Louise Daugherty Source Expert Review Amber was added to XK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 VPS13A Louise Daugherty Source Expert Review Amber was added to VPS13A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 VCP Louise Daugherty Source Expert Review Amber was added to VCP.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 TWNK Louise Daugherty Source Expert Review Amber was added to TWNK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 TTPA Louise Daugherty Source Expert Review Amber was added to TTPA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 TRPA1 Louise Daugherty Source Expert Review Amber was added to TRPA1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SURF1 Louise Daugherty Source Expert Review Amber was added to SURF1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SUCLA2 Louise Daugherty Source Expert Review Amber was added to SUCLA2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SPG7 Louise Daugherty Source Expert Review Amber was added to SPG7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SPAST Louise Daugherty Source Expert Review Amber was added to SPAST.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SOX10 Louise Daugherty Source Expert Review Amber was added to SOX10.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SLC25A46 Louise Daugherty Source Expert Review Amber was added to SLC25A46.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SLC25A19 Louise Daugherty Source Expert Review Amber was added to SLC25A19.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SCYL1 Louise Daugherty Source Expert Review Amber was added to SCYL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SCN10A Louise Daugherty Source Expert Review Amber was added to SCN10A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 SCARB2 Louise Daugherty Source Expert Review Amber was added to SCARB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PTRH2 Louise Daugherty Source Expert Review Amber was added to PTRH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PTPN11 Louise Daugherty Source Expert Review Amber was added to PTPN11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PTEN Louise Daugherty Source Expert Review Amber was added to PTEN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PRKCG Louise Daugherty Source Expert Review Amber was added to PRKCG.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 POLR3A Louise Daugherty Source Expert Review Amber was added to POLR3A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PNPLA6 Louise Daugherty Source Expert Review Amber was added to PNPLA6.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PNKP Louise Daugherty Source Expert Review Amber was added to PNKP.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PMM2 Louise Daugherty Source Expert Review Amber was added to PMM2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PLP1 Louise Daugherty Source Expert Review Amber was added to PLP1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PEX10 Louise Daugherty Source Expert Review Amber was added to PEX10.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 PDYN Louise Daugherty Source Expert Review Amber was added to PDYN.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 OPA3 Louise Daugherty Source Expert Review Amber was added to OPA3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 OPA1 Louise Daugherty Source Expert Review Amber was added to OPA1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.83 NAGA Louise Daugherty Source Expert Review Amber was added to NAGA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.82 MYH14 Louise Daugherty commented on gene: MYH14: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Hearing loss enough evidence for Green; 1 family with hearing loss & neuropathy in literature, are there additional unpublished families?
Hereditary neuropathy or pain disorder v0.82 MYH14 Louise Daugherty Classified gene: MYH14 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.82 MYH14 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.82 MYH14 Louise Daugherty Gene: myh14 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.81 MTTP Louise Daugherty commented on gene: MTTP: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorder
Hereditary neuropathy or pain disorder v0.81 MTTP Louise Daugherty Classified gene: MTTP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.81 MTTP Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.81 MTTP Louise Daugherty Gene: mttp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.80 MT-TL1 Louise Daugherty commented on gene: MT-TL1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene (MELAS) - discuss
Hereditary neuropathy or pain disorder v0.80 MT-TL1 Louise Daugherty Classified gene: MT-TL1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.80 MT-TL1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.80 MT-TL1 Louise Daugherty Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.79 MT-RNR1 Louise Daugherty commented on gene: MT-RNR1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene - discuss
Hereditary neuropathy or pain disorder v0.79 MT-RNR1 Louise Daugherty Classified gene: MT-RNR1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.79 MT-RNR1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.79 MT-RNR1 Louise Daugherty Gene: mt-rnr1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.78 MMACHC Louise Daugherty commented on gene: MMACHC: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - methylmalonic acidemia & homcysteinuria
Hereditary neuropathy or pain disorder v0.78 MMACHC Louise Daugherty Classified gene: MMACHC as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.78 MMACHC Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.78 MMACHC Louise Daugherty Gene: mmachc has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty commented on gene: LYST: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Chediak-Higashi (albinism, immune deficiency)
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.77 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.76 KCNA2 Louise Daugherty commented on gene: KCNA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - epilepsy & ataxia, neuropathy only in one family - is neuropathy a consistent feature?
Hereditary neuropathy or pain disorder v0.76 KCNA2 Louise Daugherty Classified gene: KCNA2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.76 KCNA2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.76 KCNA2 Louise Daugherty Gene: kcna2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.75 IARS2 Louise Daugherty commented on gene: IARS2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype
Hereditary neuropathy or pain disorder v0.75 IARS2 Louise Daugherty Classified gene: IARS2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.75 IARS2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.75 IARS2 Louise Daugherty Gene: iars2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty commented on gene: PPOX: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: variegate porphyria. As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Classified gene: PPOX as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.74 PPOX Louise Daugherty Gene: ppox has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty commented on gene: HMBS: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - acute intermittent porphyria As per CPOX usually presents more acutely but management implications. Promote to Green as management implications
Hereditary neuropathy or pain disorder v0.73 CPOX Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Promote to Green as management implications; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Rossor. Promote to Green as management implications
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty Classified gene: HMBS as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.73 HMBS Louise Daugherty Gene: hmbs has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty commented on gene: HADHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiency
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty Classified gene: HADHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.72 HADHB Louise Daugherty Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.71 HADHA Louise Daugherty commented on gene: HADHA: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype - mitochondrial trifunctional protein deficiency
Hereditary neuropathy or pain disorder v0.71 HADHA Louise Daugherty Classified gene: HADHA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.71 HADHA Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.71 HADHA Louise Daugherty Gene: hadha has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.70 GJC2 Louise Daugherty commented on gene: GJC2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype - HSP/hypomyelinating leucodystrophy with neuropathy
Hereditary neuropathy or pain disorder v0.70 GJC2 Louise Daugherty Classified gene: GJC2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.70 GJC2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.70 GJC2 Louise Daugherty Gene: gjc2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.69 GBA2 Louise Daugherty commented on gene: GBA2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype - HSP with neuropathy
Hereditary neuropathy or pain disorder v0.69 GBA2 Louise Daugherty Classified gene: GBA2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.69 GBA2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.69 GBA2 Louise Daugherty Gene: gba2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.68 TYMP Louise Daugherty commented on gene: TYMP: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.68 TYMP Louise Daugherty Classified gene: TYMP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.68 TYMP Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.68 TYMP Louise Daugherty Gene: tymp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.67 TUBB3 Louise Daugherty commented on gene: TUBB3: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.67 TUBB3 Louise Daugherty Classified gene: TUBB3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.67 TUBB3 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.67 TUBB3 Louise Daugherty Gene: tubb3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Classified gene: SLC12A6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.66 SLC12A6 Louise Daugherty Gene: slc12a6 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.65 SLC12A6 Louise Daugherty commented on gene: SLC12A6: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.65 SACS Louise Daugherty Classified gene: SACS as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.65 SACS Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.65 SACS Louise Daugherty Gene: sacs has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.64 SACS Louise Daugherty commented on gene: SACS: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Classified gene: POLG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Gene: polg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.63 POLG Louise Daugherty commented on gene: POLG: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty commented on gene: PHYH: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 PEX7 Louise Daugherty commented on gene: PEX7: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 PDHA1 Louise Daugherty commented on gene: PDHA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 GLA Louise Daugherty commented on gene: GLA: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 GAN Louise Daugherty commented on gene: GAN: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Classified gene: PHYH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.63 PHYH Louise Daugherty Gene: phyh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.62 PEX7 Louise Daugherty Classified gene: PEX7 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.62 PEX7 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.62 PEX7 Louise Daugherty Gene: pex7 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Classified gene: PDHA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.61 PDHA1 Louise Daugherty Gene: pdha1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.60 GLA Louise Daugherty Classified gene: GLA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.60 GLA Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.60 GLA Louise Daugherty Gene: gla has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.59 GAN Louise Daugherty Classified gene: GAN as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.59 GAN Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.59 GAN Louise Daugherty Gene: gan has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.58 GALC Louise Daugherty commented on gene: GALC: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Krabbe disease
Hereditary neuropathy or pain disorder v0.58 GALC Louise Daugherty Classified gene: GALC as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.58 GALC Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.58 GALC Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty commented on gene: FXN: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Rate as Green if STR Green Should be on ataxia panels
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Classified gene: FXN as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.57 FXN Louise Daugherty Gene: fxn has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.56 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - ataxia & RP. Agree more suited to ataxia panel
Hereditary neuropathy or pain disorder v0.56 FLVCR1 Louise Daugherty Classified gene: FLVCR1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.56 FLVCR1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.56 FLVCR1 Louise Daugherty Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.55 FBXO38 Louise Daugherty commented on gene: FBXO38: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / SMA - limited evidence, some functional work but not strong - Amber? 2 families one very large segregating gene, possibly green if test Group supports rating?
Hereditary neuropathy or pain disorder v0.55 FBXO38 Louise Daugherty Classified gene: FBXO38 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.55 FBXO38 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.55 FBXO38 Louise Daugherty Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty commented on gene: FAM126A: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: leukodystrophy
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty Classified gene: FAM126A as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.54 FAM126A Louise Daugherty Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty commented on gene: FAH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Tyrosinemia, acute episodes of neuropathy similar to AIP
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty Classified gene: FAH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.53 FAH Louise Daugherty Gene: fah has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty commented on gene: ETFDH: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype: Glutaric acidemia IIc - minor feature
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty Classified gene: ETFDH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.52 ETFDH Louise Daugherty Gene: etfdh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.51 ERCC8 Louise Daugherty commented on gene: ERCC8: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Cockayne syndrome
Hereditary neuropathy or pain disorder v0.51 ERCC8 Louise Daugherty Classified gene: ERCC8 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.51 ERCC8 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.51 ERCC8 Louise Daugherty Gene: ercc8 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.50 ERCC6 Louise Daugherty commented on gene: ERCC6: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Cockayne syndrome
Hereditary neuropathy or pain disorder v0.50 ERCC6 Louise Daugherty Classified gene: ERCC6 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.50 ERCC6 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.50 ERCC6 Louise Daugherty Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.108 PNKP Ellen McDonagh Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay
Dystonia, chorea or related movement disorder, childhood onset v0.107 PNKP Ellen McDonagh Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.106 PDE2A Ellen McDonagh Added comment: Comment on mode of inheritance: Based on Paroxysmal central nervous system disorders gene panel, version 1.0.
Dystonia, chorea or related movement disorder, childhood onset v0.106 PDE2A Ellen McDonagh Mode of inheritance for gene: PDE2A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.105 PDE2A Ellen McDonagh Phenotypes for gene: PDE2A were changed from to infantile‐onset chorea‐predominant movement disorder
Dystonia, chorea or related movement disorder, childhood onset v0.104 PDE2A Ellen McDonagh Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.103 VAMP2 Ellen McDonagh Added comment: Comment on mode of inheritance: Based on other panels
Dystonia, chorea or related movement disorder, childhood onset v0.103 VAMP2 Ellen McDonagh Mode of inheritance for gene: VAMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.102 VPS13D Ellen McDonagh Phenotypes for gene: VPS13D were changed from to Spinocerebellar ataxia, autosomal recessive 4
Dystonia, chorea or related movement disorder, childhood onset v0.101 VPS13D Ellen McDonagh Mode of inheritance for gene: VPS13D was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.100 VAMP1 Ellen McDonagh Mode of inheritance for gene: VAMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.99 VAMP1 Ellen McDonagh Mode of inheritance for gene: VAMP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.98 SLC6A8 Ellen McDonagh Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1
Dystonia, chorea or related movement disorder, childhood onset v0.97 SLC6A8 Ellen McDonagh Mode of inheritance for gene: SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, childhood onset v0.96 SETX Ellen McDonagh Phenotypes for gene: SETX were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Dystonia, chorea or related movement disorder, childhood onset v0.95 SETX Ellen McDonagh Mode of inheritance for gene: SETX was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.94 RNASET2 Ellen McDonagh Phenotypes for gene: RNASET2 were changed from to Leukoencephalopathy, cystic, without megalencephaly
Dystonia, chorea or related movement disorder, childhood onset v0.93 RNASET2 Ellen McDonagh Mode of inheritance for gene: RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.92 POLR3A Ellen McDonagh Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome
Dystonia, chorea or related movement disorder, childhood onset v0.91 POLR3A Ellen McDonagh Mode of inheritance for gene: POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.90 PET100 Ellen McDonagh Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency
Dystonia, chorea or related movement disorder, childhood onset v0.89 PET100 Ellen McDonagh Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.88 GLB1 Ellen McDonagh Mode of inheritance for gene: GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.87 OPA3 Ellen McDonagh Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III
Dystonia, chorea or related movement disorder, childhood onset v0.86 OPA3 Ellen McDonagh Mode of inheritance for gene: OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.85 NPC1 Ellen McDonagh Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1; Niemann-Pick disease, type D
Dystonia, chorea or related movement disorder, childhood onset v0.84 NPC1 Ellen McDonagh Mode of inheritance for gene: NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.83 NGLY1 Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation
Dystonia, chorea or related movement disorder, childhood onset v0.82 NGLY1 Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.81 NDUFS1 Ellen McDonagh Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5
Dystonia, chorea or related movement disorder, childhood onset v0.80 NDUFS1 Ellen McDonagh Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.79 NDUFAF5 Ellen McDonagh Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 16
Dystonia, chorea or related movement disorder, childhood onset v0.78 NDUFAF5 Ellen McDonagh Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.77 MTFMT Ellen McDonagh Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27
Dystonia, chorea or related movement disorder, childhood onset v0.76 MTFMT Ellen McDonagh Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.75 MRE11 Ellen McDonagh Phenotypes for gene: MRE11 were changed from to Ataxia-telangiectasia-like disorder 1
Dystonia, chorea or related movement disorder, childhood onset v0.74 MRE11 Ellen McDonagh Mode of inheritance for gene: MRE11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.73 MARS2 Ellen McDonagh Phenotypes for gene: MARS2 were changed from to Spastic ataxia 3, autosomal recessive
Dystonia, chorea or related movement disorder, childhood onset v0.72 MARS2 Ellen McDonagh Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.71 LRPPRC Ellen McDonagh Phenotypes for gene: LRPPRC were changed from to Leigh syndrome, French-Canadian type
Dystonia, chorea or related movement disorder, childhood onset v0.70 LRPPRC Ellen McDonagh Mode of inheritance for gene: LRPPRC was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.69 KIF1C Ellen McDonagh Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.68 KIF1C Ellen McDonagh Phenotypes for gene: KIF1C were changed from to Spastic ataxia 2, autosomal recessive
Dystonia, chorea or related movement disorder, childhood onset v0.67 KCTD17 Ellen McDonagh Phenotypes for gene: KCTD17 were changed from to Dystonia 26, myoclonic
Dystonia, chorea or related movement disorder, childhood onset v0.66 KCTD17 Ellen McDonagh Mode of inheritance for gene: KCTD17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.65 KCNMA1 Ellen McDonagh Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Dystonia, chorea or related movement disorder, childhood onset v0.64 KCNMA1 Ellen McDonagh Mode of inheritance for gene: KCNMA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.63 HSPD1 Ellen McDonagh Phenotypes for gene: HSPD1 were changed from to Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4
Dystonia, chorea or related movement disorder, childhood onset v0.62 HSPD1 Ellen McDonagh Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.61 HCFC1 Ellen McDonagh Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Dystonia, chorea or related movement disorder, childhood onset v0.60 HCFC1 Ellen McDonagh Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, childhood onset v0.59 GTPBP2 Ellen McDonagh Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome
Dystonia, chorea or related movement disorder, childhood onset v0.58 GTPBP2 Ellen McDonagh Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.57 GM2A Ellen McDonagh Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant
Dystonia, chorea or related movement disorder, childhood onset v0.56 GM2A Ellen McDonagh Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.55 GLB1 Ellen McDonagh Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis
Dystonia, chorea or related movement disorder, childhood onset v0.54 GJC2 Ellen McDonagh Phenotypes for gene: GJC2 were changed from Spastic paraplegia 44, autosomal recessive to Spastic paraplegia 44, autosomal recessive; Leukodystrophy, hypomyelinating, 2
Dystonia, chorea or related movement disorder, childhood onset v0.53 GJC2 Ellen McDonagh Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive
Dystonia, chorea or related movement disorder, childhood onset v0.52 GJC2 Ellen McDonagh Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.51 GBA Ellen McDonagh Phenotypes for gene: GBA were changed from to Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC; Gaucher disease, perinatal lethal
Dystonia, chorea or related movement disorder, childhood onset v0.50 GBA Ellen McDonagh Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.49 FXN Ellen McDonagh Phenotypes for gene: FXN were changed from to Friedreich ataxia; Friedreich ataxia with retained reflexes
Dystonia, chorea or related movement disorder, childhood onset v0.48 FXN Ellen McDonagh Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.47 ECHS1 Ellen McDonagh Phenotypes for gene: ECHS1 were changed from to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Dystonia, chorea or related movement disorder, childhood onset v0.46 ECHS1 Ellen McDonagh Mode of inheritance for gene: ECHS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.45 DLD Ellen McDonagh Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency
Dystonia, chorea or related movement disorder, childhood onset v0.44 DLD Ellen McDonagh Mode of inheritance for gene: DLD was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.43 COL6A3 Ellen McDonagh Mode of inheritance for gene: COL6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.42 COL6A3 Ellen McDonagh Phenotypes for gene: COL6A3 were changed from to Dystonia 27
Dystonia, chorea or related movement disorder, childhood onset v0.41 CLPB Ellen McDonagh Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
Dystonia, chorea or related movement disorder, childhood onset v0.40 CLPB Ellen McDonagh Mode of inheritance for gene: CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.39 CLN5 Ellen McDonagh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5
Dystonia, chorea or related movement disorder, childhood onset v0.38 CLN5 Ellen McDonagh Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.37 CLN3 Ellen McDonagh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3
Dystonia, chorea or related movement disorder, childhood onset v0.36 CLN3 Ellen McDonagh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.35 CACNA1G Ellen McDonagh Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087; Spinocerebellar ataxia 42 616795
Dystonia, chorea or related movement disorder, childhood onset v0.34 CACNA1G Ellen McDonagh Mode of inheritance for gene: CACNA1G was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.33 C9orf72 Ellen McDonagh Mode of inheritance for gene: C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, childhood onset v0.32 C9orf72 Ellen McDonagh Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Dystonia, chorea or related movement disorder, childhood onset v0.31 ALDH18A1 Ellen McDonagh Added comment: Comment on phenotypes: From OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.31 ALDH18A1 Ellen McDonagh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586
Dystonia, chorea or related movement disorder, childhood onset v0.30 ALDH18A1 Ellen McDonagh Added comment: Comment on mode of inheritance: Sourced from OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.30 ALDH18A1 Ellen McDonagh Mode of inheritance for gene: ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.29 AFG3L2 Ellen McDonagh Phenotypes for gene: AFG3L2 were changed from Dystonia to Spastic ataxia 5, autosomal recessive 614487; Spinocerebellar ataxia 28 610246
Dystonia, chorea or related movement disorder, childhood onset v0.28 AFG3L2 Ellen McDonagh Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.27 ACOX1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.27 ACOX1 Ellen McDonagh Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.26 ACOX1 Ellen McDonagh Mode of inheritance for gene: ACOX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.25 ABAT Ellen McDonagh Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency 613163
Dystonia, chorea or related movement disorder, childhood onset v0.24 ABAT Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Dystonia, chorea or related movement disorder, childhood onset v0.24 ABAT Ellen McDonagh Mode of inheritance for gene: ABAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.23 TPK1 Ellen McDonagh Classified gene: TPK1 as Red List (low evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.23 TPK1 Ellen McDonagh Added comment: Comment on list classification: Kept as Red, as only one patient reported with dystonia, and one Red review.
Dystonia, chorea or related movement disorder, childhood onset v0.23 TPK1 Ellen McDonagh Gene: tpk1 has been classified as Red List (Low Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.22 TPK1 Ellen McDonagh Publications for gene: TPK1 were set to
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Classified gene: RNASEH2A as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Requires clinical input to determine whether appropriate to include and promote to Green.
Dystonia, chorea or related movement disorder, childhood onset v0.21 RNASEH2A Ellen McDonagh Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.20 PLP1 Ellen McDonagh Classified gene: PLP1 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.20 PLP1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH).
Dystonia, chorea or related movement disorder, childhood onset v0.20 PLP1 Ellen McDonagh Gene: plp1 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.19 AUH Ellen McDonagh Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.18 AUH Ellen McDonagh Classified gene: AUH as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.18 AUH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Clinical input required to decide whether this is appropriate to include and to make this Green.
Dystonia, chorea or related movement disorder, childhood onset v0.18 AUH Ellen McDonagh Gene: auh has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.17 SUOX Ellen McDonagh Classified gene: SUOX as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.17 SUOX Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Green due to review from North Bristol NHS Trust (South West GLH).
Dystonia, chorea or related movement disorder, childhood onset v0.17 SUOX Ellen McDonagh Gene: suox has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.16 PCDH12 Ellen McDonagh Classified gene: PCDH12 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.16 PCDH12 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to the review from North Bristol NHS Trust (South West GLH) - ataxia/dystonia can be a feature. More evidence or clinical review required for this to be Green.
Dystonia, chorea or related movement disorder, childhood onset v0.16 PCDH12 Ellen McDonagh Gene: pcdh12 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.15 NKX2-1 Ellen McDonagh Classified gene: NKX2-1 as Green List (high evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.15 NKX2-1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to review by North Bristol NHS Trust (South West GLH) to suggest that this is a well described syndrome.
Dystonia, chorea or related movement disorder, childhood onset v0.15 NKX2-1 Ellen McDonagh Gene: nkx2-1 has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.14 L2HGDH Ellen McDonagh Classified gene: L2HGDH as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.14 L2HGDH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Requires clinical input.
Dystonia, chorea or related movement disorder, childhood onset v0.14 L2HGDH Ellen McDonagh Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.13 HPRT1 Ellen McDonagh Classified gene: HPRT1 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.13 HPRT1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Clinical input required to promote to Green.
Dystonia, chorea or related movement disorder, childhood onset v0.13 HPRT1 Ellen McDonagh Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.12 FOXG1 Ellen McDonagh Classified gene: FOXG1 as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.12 FOXG1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust.
Dystonia, chorea or related movement disorder, childhood onset v0.12 FOXG1 Ellen McDonagh Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.108 DYNC1H1 Julie Vogt gene: DYNC1H1 was added
gene: DYNC1H1 was added to Arthrogryposis. Sources: Other
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
Phenotypes for gene: DYNC1H1 were set to arthrogryposis; spinal muscular atrophy with lower extremity predominance
Review for gene: DYNC1H1 was set to GREEN
gene: DYNC1H1 was marked as current diagnostic
Added comment: Sources: Other
Dystonia, chorea or related movement disorder, childhood onset v0.11 ARX Ellen McDonagh Classified gene: ARX as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.11 ARX Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review; for further clinical review.
Dystonia, chorea or related movement disorder, childhood onset v0.11 ARX Ellen McDonagh Gene: arx has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.10 ACTB Ellen McDonagh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 to ?Dystonia, juvenile-onset; Baraitser-Winter syndrome 1, 243310
Dystonia, chorea or related movement disorder, childhood onset v0.9 ACTB Ellen McDonagh Classified gene: ACTB as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, childhood onset v0.9 ACTB Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber, as there has only been one variant reported.
Dystonia, chorea or related movement disorder, childhood onset v0.9 ACTB Ellen McDonagh Gene: actb has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.8 ACTB Ellen McDonagh Publications for gene: ACTB were set to
Arthrogryposis v2.108 L1CAM Julie Vogt changed review comment from: Sources: Other; to: Sources: Other
Arthrogryposis v2.108 L1CAM Julie Vogt gene: L1CAM was added
gene: L1CAM was added to Arthrogryposis. Sources: Other
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: L1CAM were set to PMID: 31504653
Phenotypes for gene: L1CAM were set to arthrogryposis; congenital hypopituitarism
Review for gene: L1CAM was set to RED
Added comment: Sources: Other
Hereditary neuropathy or pain disorder v0.49 ELP1 Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel. autonomic neuropathy - relevant to both panels (narrow and broad). Keep green
Hereditary neuropathy or pain disorder v0.49 ELP1 Louise Daugherty commented on gene: ELP1: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Familial dysautonomia - appropriate for panel Keep green
Hereditary neuropathy or pain disorder v0.49 ELP1 Louise Daugherty edited their review of gene: ELP1: Added comment: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty commented on gene: DNAJC3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Broader phenotype - ataxia & hearing loss - only 1 family in OMIM - more evidence? Complex disorder not pure neuropathy
Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty Classified gene: DNAJC3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.49 DNAJC3 Louise Daugherty Gene: dnajc3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early so advised Green rating over Amber for R57 panel
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty edited their review of gene: CYP27A1: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty changed review comment from: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca). Although Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis, it was noted that it was good to pick up early
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty Classified gene: CYP27A1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.48 CYP27A1 Louise Daugherty Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty commented on gene: DEGS1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - leukodystrophy with neuropathy
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Classified gene: DEGS1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.47 DEGS1 Louise Daugherty Gene: degs1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty commented on gene: DARS2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Mitochondrial gene - extension to phenotype to include isolated neuropathy
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Classified gene: DARS2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.46 DARS2 Louise Daugherty Gene: dars2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - cerebrotendinous xanthomatosis
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.45 CYP27A1 Louise Daugherty Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty commented on gene: CTDP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype (dysmorphic, cataract) - founder mutation in Roma populations, intronic
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Classified gene: CTDP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.44 CTDP1 Louise Daugherty Gene: ctdp1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.43 CPOX Louise Daugherty Classified gene: CPOX as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.43 CPOX Louise Daugherty Gene: cpox has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty edited their review of gene: CPOX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - porphyria, can present similar to AIP according to Alex Promote to Green as management implications; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Classified gene: CPOX as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.42 CPOX Louise Daugherty Gene: cpox has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty commented on gene: COA7: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope - ataxia with neuropathy / Broader phenotype - SCA with axonal neuropathy
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Classified gene: COA7 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.41 COA7 Louise Daugherty Gene: coa7 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.40 WARS Louise Daugherty edited their review of gene: WARS: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green/ Additional evidence: 3 cases in literature with same variant on diff haplotypes and postulated dom neg effect; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty changed review comment from: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence; to: Gene rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence.
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty Classified gene: VRK1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.40 VRK1 Louise Daugherty Gene: vrk1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.39 VRK1 Louise Daugherty commented on gene: VRK1: Gene rated Green: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence
Hereditary neuropathy or pain disorder v0.39 TRIM2 Louise Daugherty Classified gene: TRIM2 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.39 TRIM2 Louise Daugherty Gene: trim2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.38 TRIM2 Louise Daugherty commented on gene: TRIM2: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / Consider for Green with functional data? 2 families with missense variants; no new publications since 2015
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). 3 families and functional data according to Natalie's review but more of a myastheia phenotype but overlaps with CMT . Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS.
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty Classified gene: SYT2 as Red List (low evidence)
Hereditary neuropathy or pain disorder v0.38 SYT2 Louise Daugherty Gene: syt2 has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v0.37 SYT2 Louise Daugherty changed review comment from: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS; to: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Green on Congenital myaesthenic syndrome Panel so recommend leave as Red on the R78 panel, but promote to Green on larger panel for WGS
Hereditary neuropathy or pain disorder v0.37 SYT2 Louise Daugherty commented on gene: SYT2: Gene rated Red : From feedback from Genomics England Clinical team (Anna de Burca). Congenital myasthenia gene; currently Red on congenital myasthenic syndrome panel but Oxford have given Green review for that panel so suggest promote on the congenital myasthenic syndrome panel, leave as Red on the R78 panel, but promote to Green on larger panel for WGS
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. Alex Rossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that Alex Rossor provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel. SETX had been reviewed by James Polke as Red but he had not left a comment, since he was not on the call, agreed that this gene be left as Green unless James provides an explanation for his Red review
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty changed review comment from: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; to: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype; to: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype. AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty changed review comment from: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.37 SLC5A7 Louise Daugherty edited their review of gene: SLC5A7: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / Limited evidence? See Natalie review but AR says multiple families; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 SETX Louise Daugherty edited their review of gene: SETX: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / James Polke Red review but no comment?? Pretty rare for this to present as a dominant juvenile ALS phenotype but three different mutations reported. Probably reasonable to keep as green but presumably in ALS panel; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 SBF1 Louise Daugherty edited their review of gene: SBF1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence: 1 more family - promote to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty edited their review of gene: PRNP: Changed rating: RED
Hereditary neuropathy or pain disorder v0.37 PRNP Louise Daugherty commented on gene: PRNP: Gene rated red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) Extension of panel scope but limited evidence / Broader phenotype: good evidence for ataxia/oculomotor apraxia, less for more severe phenotype
Hereditary neuropathy or pain disorder v0.37 PMP2 Louise Daugherty edited their review of gene: PMP2: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New evidence - green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 NEFH Louise Daugherty commented on gene: NEFH: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? / New CMT gene, 2 families & functional evidence in OMIM
Hereditary neuropathy or pain disorder v0.37 NEFH Louise Daugherty edited their review of gene: NEFH: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.37 MCM3AP Louise Daugherty Publications for gene: MCM3AP were set to
Hereditary neuropathy or pain disorder v0.36 MCM3AP Louise Daugherty edited their review of gene: MCM3AP: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) New evidence/re-evaluation of evidence - promotion to Green/ New evidence - PMID:28633435; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 GNB4 Louise Daugherty edited their review of gene: GNB4: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 GNB4 Louise Daugherty commented on gene: GNB4: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / CMT - new evidence Agree promote to Green
Hereditary neuropathy or pain disorder v0.36 DST Louise Daugherty edited their review of gene: DST: Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 DST Louise Daugherty commented on gene: DST: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green? New evidence promote to Green
Hereditary neuropathy or pain disorder v0.36 DRP2 Louise Daugherty commented on gene: DRP2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green? 2 cases but functional studies don't show features of neuropathy - Amber? More evidence needed
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).New evidence/re-evaluation of evidence - promotion to Green / Reviewed as Amber due to single reported variant in 2016, Natalie says no publications since 2016 but Alex says now multiple case series Frontiers in Molecular biosciences doi: 10.3389/fmolb.2016.00081 cites 10 cases
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Green List (high evidence)
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy v1.351 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.36 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)/ Green for larger panel only as main phenotype is distal SMA; AR to provide further references
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty edited their review of gene: DCTN1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Classified gene: DCTN1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.36 DCTN1 Louise Daugherty Gene: dctn1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.35 ATP1A1 Louise Daugherty edited their review of gene: ATP1A1: Added comment: Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / New gene - 7 unrelated families (2018) Agree promote to Green; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.35 ARHGEF10 Louise Daugherty commented on gene: ARHGEF10: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / One published family plus functional evidence (NB. Bristol review although Green acknowledges limited evidence) - demote
Hereditary neuropathy or pain disorder v0.35 ATL3 Louise Daugherty commented on gene: ATL3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / Limited evidence highlighted by Natalie - same variant in 2 families and other variant didn't segregate - downgrade to Amber? Agree downgrade due to lack of evidence
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty commented on gene: CNTNAP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - congenital hypomyelinating neuropathy, arthrogryposis, severe dev delay
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Classified gene: CNTNAP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.35 CNTNAP1 Louise Daugherty Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty commented on gene: CD59: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: haemolytic anaemia, strokes and relapsing immune-mediated demyelinating neuropathy
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Classified gene: CD59 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.34 CD59 Louise Daugherty Gene: cd59 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Classified gene: C12orf65 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Gene: c12orf65 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty commented on gene: BCKDHB: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Maple syrup urine disease
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Classified gene: BCKDHB as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.32 BCKDHB Louise Daugherty Gene: bckdhb has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty commented on gene: BAG3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - myopathy with neuropathy / Broader phenotype - not reviewed by Alex in this round but previously reviewed as Green; myofibrillar myopathy, sufficient evidence for neuropathy?
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Classified gene: BAG3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.31 BAG3 Louise Daugherty Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP gene but can be associated with neuropathy.
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Classified gene: B4GALNT1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.30 B4GALNT1 Louise Daugherty Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty commented on gene: ATM: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype - biallelic only (cancer risk)
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Classified gene: ATM as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.29 ATM Louise Daugherty Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty commented on gene: ARSA: Gene rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Metachromatic leukodystrophy - broader phenotype
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Classified gene: ARSA as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.28 ARSA Louise Daugherty Gene: arsa has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty commented on gene: APTX: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Broader phenotype: Ataxia with oculomotor apraxia
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty edited their review of gene: APTX: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Classified gene: APTX as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.27 APTX Louise Daugherty Gene: aptx has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.26 APOA1 Louise Daugherty Classified gene: APOA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.26 APOA1 Louise Daugherty Gene: apoa1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty commented on gene: APOA1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).. Extension of panel scope - minor feature. Amyloidosis - most cases visceral amyloidosis but 1 family with neurological phenotype- rate Red.
Hereditary neuropathy or pain disorder v0.25 APOA1 Louise Daugherty edited their review of gene: APOA1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Classified gene: AP1S1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.25 AP1S1 Louise Daugherty Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty commented on gene: AP1S1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation - rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope but limited evidence / Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma - OMIM 4 families from Quebec with same splice site mutation
Hereditary neuropathy or pain disorder v0.24 AP1S1 Louise Daugherty edited their review of gene: AP1S1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty edited their review of gene: AGXT: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?- rated Red
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - minor feature / Gene well established to cause PH1 Primary Hyperoxaluria (green). 2 reports of neuropathy - enough cases?
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Classified gene: AGXT as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.24 AGXT Louise Daugherty Gene: agxt has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty edited their review of gene: ABHD12: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.23 AGTPBP1 Louise Daugherty edited their review of gene: AGTPBP1: Changed rating: AMBER
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty Classified gene: ABHD12 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.23 ABHD12 Louise Daugherty Gene: abhd12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.22 AGTPBP1 Louise Daugherty Classified gene: AGTPBP1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.22 AGTPBP1 Louise Daugherty Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.21 AGTPBP1 Louise Daugherty commented on gene: AGTPBP1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 AGTPBP1 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart).Extension of panel scope - syndrome with non-neurological features / Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy - complex phenotype - overlap with ID
Hereditary neuropathy or pain disorder v0.21 ABCA1 Louise Daugherty commented on gene: ABCA1: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
Hereditary neuropathy or pain disorder v0.21 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
; to: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty commented on gene: ABHD12: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 ABHD12 Louise Daugherty changed review comment from: Gene remains rated as Red : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Gene remains rated as Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia - rated Red.
Dystonia, chorea or related movement disorder, childhood onset v0.7 WDR45 Ellen McDonagh Source PanelApp was added to WDR45.
Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes beta-propeller protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 5 300894 for gene: WDR45
Publications for gene WDR45 were changed from to 22892189; 23435086; 23176820
Dystonia, chorea or related movement disorder, childhood onset v0.7 PDHA1 Ellen McDonagh Source PanelApp was added to PDHA1.
Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 for gene: PDHA1
Dystonia, chorea or related movement disorder, childhood onset v0.7 OFD1 Ellen McDonagh Source PanelApp was added to OFD1.
Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I for gene: OFD1
Publications for gene OFD1 were changed from to 22353940; 19800048
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFA1 Ellen McDonagh Source PanelApp was added to NDUFA1.
Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1
Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523
Dystonia, chorea or related movement disorder, childhood onset v0.7 MAOA Ellen McDonagh Source PanelApp was added to MAOA.
Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA
Publications for gene MAOA were changed from to 8211186; 27830117; 24169519
Dystonia, chorea or related movement disorder, childhood onset v0.7 RAB39B Ellen McDonagh Source PanelApp was added to RAB39B.
Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Waisman syndrome 311510 for gene: RAB39B
Publications for gene RAB39B were changed from to 27448726; 26399558; 27838047; 25434005; 27943471
Dystonia, chorea or related movement disorder, childhood onset v0.7 BCAP31 Ellen McDonagh Source PanelApp was added to BCAP31.
Mode of inheritance for gene BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS; Deafness, dystonia and cerebellar hypomyelination, 300475 for gene: BCAP31
Publications for gene BCAP31 were changed from to 28332767; 24011989
Dystonia, chorea or related movement disorder, childhood onset v0.7 AP1S2 Ellen McDonagh Source PanelApp was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Dystonia; Mental retardation, X-linked syndromic 5 304340 for gene: AP1S2
Publications for gene AP1S2 were changed from to 23756445; 17617514; 18428203
Dystonia, chorea or related movement disorder, childhood onset v0.7 ZSWIM6 Ellen McDonagh Source PanelApp was added to ZSWIM6.
Mode of inheritance for gene ZSWIM6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene ZSWIM6 was changed from to Other - please provide details in the comments
Added phenotypes Acromelic frontonasal dysostosis 603671 for gene: ZSWIM6
Publications for gene ZSWIM6 were changed from to 25105228
Dystonia, chorea or related movement disorder, childhood onset v0.7 YY1 Ellen McDonagh Source PanelApp was added to YY1.
Mode of inheritance for gene YY1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Publications for gene YY1 were changed from to 28575647
Dystonia, chorea or related movement disorder, childhood onset v0.7 XPR1 Ellen McDonagh Source PanelApp was added to XPR1.
Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 6 616413 for gene: XPR1
Publications for gene XPR1 were changed from to 25938945
Dystonia, chorea or related movement disorder, childhood onset v0.7 TUBA1A Ellen McDonagh Source PanelApp was added to TUBA1A.
Mode of inheritance for gene TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Lissencephaly 3 611603 for gene: TUBA1A
Dystonia, chorea or related movement disorder, childhood onset v0.7 TOR1A Ellen McDonagh Source PanelApp was added to TOR1A.
Mode of inheritance for gene TOR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100 for gene: TOR1A
Publications for gene TOR1A were changed from to 20301334; 11523564; 17503336; 20301665; 9288096; 16537570
Dystonia, chorea or related movement disorder, childhood onset v0.7 THAP1 Ellen McDonagh Source PanelApp was added to THAP1.
Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia 6, torsion, 602629; Dystonia for gene: THAP1
Publications for gene THAP1 were changed from to 20301334
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC20A2 Ellen McDonagh Source PanelApp was added to SLC20A2.
Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 1 213600; Dystonia for gene: SLC20A2
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC1A3 Ellen McDonagh Source PanelApp was added to SLC1A3.
Mode of inheritance for gene SLC1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 6 for gene: SLC1A3
Publications for gene SLC1A3 were changed from to 19139306; 16116111; 27829685
Dystonia, chorea or related movement disorder, childhood onset v0.7 SCN8A Ellen McDonagh Source PanelApp was added to SCN8A.
Mode of inheritance for gene SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes paroxysmal kinesigenic dyskinesias; epilepsy for gene: SCN8A
Publications for gene SCN8A were changed from to 26677014
Dystonia, chorea or related movement disorder, childhood onset v0.7 SCN1A Ellen McDonagh Source PanelApp was added to SCN1A.
Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome for gene: SCN1A
Publications for gene SCN1A were changed from to 19332696; 16054936
Dystonia, chorea or related movement disorder, childhood onset v0.7 PRRT2 Ellen McDonagh Source PanelApp was added to PRRT2.
Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; Episodic kinesigenic dyskinesia 1, 128200; dystonia and occasionally hemiplegic migraine and epilepsy; Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia for gene: PRRT2
Publications for gene PRRT2 were changed from to 22744660; 20301334; 22399141; 22120146; 22101681
Dystonia, chorea or related movement disorder, childhood onset v0.7 PRNP Ellen McDonagh Source PanelApp was added to PRNP.
Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Creutzfeldt-Jakob disease 123400; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Cerebral amyloid angiopathy, PRNP-related 137440 for gene: PRNP
Dystonia, chorea or related movement disorder, childhood onset v0.7 PNKD Ellen McDonagh Source PanelApp was added to PNKD.
Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD
Publications for gene PNKD were changed from to 15496428; 20301334; 15262732; 15824259
Dystonia, chorea or related movement disorder, childhood onset v0.7 PDGFRB Ellen McDonagh Source PanelApp was added to PDGFRB.
Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia; Basal ganglia calcification, idiopathic, 4 615007 for gene: PDGFRB
Publications for gene PDGFRB were changed from to 27984190; 23255827; 26129893; 25292412
Dystonia, chorea or related movement disorder, childhood onset v0.7 PDGFB Ellen McDonagh Source PanelApp was added to PDGFB.
Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB
Publications for gene PDGFB were changed from to 26129893
Dystonia, chorea or related movement disorder, childhood onset v0.7 NKX2-1 Ellen McDonagh Source PanelApp was added to NKX2-1.
Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700 for gene: NKX2-1
Publications for gene NKX2-1 were changed from to 24555207
Dystonia, chorea or related movement disorder, childhood onset v0.7 KCNQ3 Ellen McDonagh Source PanelApp was added to KCNQ3.
Mode of inheritance for gene KCNQ3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3
Dystonia, chorea or related movement disorder, childhood onset v0.7 KCNQ2 Ellen McDonagh Source PanelApp was added to KCNQ2.
Mode of inheritance for gene KCNQ2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myokymia, 121200; Dystonia for gene: KCNQ2
Dystonia, chorea or related movement disorder, childhood onset v0.7 KCNA1 Ellen McDonagh Source PanelApp was added to KCNA1.
Mode of inheritance for gene KCNA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia for gene: KCNA1
Publications for gene KCNA1 were changed from to 17575281
Dystonia, chorea or related movement disorder, childhood onset v0.7 IFIH1 Ellen McDonagh Source PanelApp was added to IFIH1.
Mode of inheritance for gene IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Aicardi-Goutieres syndrome 7 615846 for gene: IFIH1
Dystonia, chorea or related movement disorder, childhood onset v0.7 GNAL Ellen McDonagh Source PanelApp was added to GNAL.
Added phenotypes Dystonia 25, 615073 for gene: GNAL
Publications for gene GNAL were changed from to 25847575; 20301334; 24151159; 23222958; 26810727; 24535567; 27222887; 23759320; 25382112; 24408567; 26506956; 23449625; 24729450; 26725140; 26365774; 27123488; 27093447
Dystonia, chorea or related movement disorder, childhood onset v0.7 FOXP2 Ellen McDonagh Source PanelApp was added to FOXP2.
Mode of inheritance for gene FOXP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Speech-language disorder-1 602081 for gene: FOXP2
Publications for gene FOXP2 were changed from to 15877281; 22434823; 11586359
Dystonia, chorea or related movement disorder, childhood onset v0.7 CACNB4 Ellen McDonagh Source PanelApp was added to CACNB4.
Mode of inheritance for gene CACNB4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5 for gene: CACNB4
Publications for gene CACNB4 were changed from to 10762541
Dystonia, chorea or related movement disorder, childhood onset v0.7 CACNA1A Ellen McDonagh Source PanelApp was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial hemiplegic migraine type 1, 141500; Dystonia; episodic ataxia type 2 (EA2), 108500 for gene: CACNA1A
Publications for gene CACNA1A were changed from to 21734179; 17575281
Dystonia, chorea or related movement disorder, childhood onset v0.7 ATP1A3 Ellen McDonagh Source PanelApp was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Rapid-Onset Dystonia-Parkinsonism; Dystonia-12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3
Publications for gene ATP1A3 were changed from to 22850527; 22842232; 20301334
Dystonia, chorea or related movement disorder, childhood onset v0.7 ATP1A2 Ellen McDonagh Source PanelApp was added to ATP1A2.
Mode of inheritance for gene ATP1A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290; Dystonia; migraine for gene: ATP1A2
Publications for gene ATP1A2 were changed from to 18056581; 12953268; 12539047
Dystonia, chorea or related movement disorder, childhood onset v0.7 ADCY5 Ellen McDonagh Source PanelApp was added to ADCY5.
Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyskinesia, familial, with facial myokymia, 606703; dystonia; Familial dyskinesia 606703 for gene: ADCY5
Publications for gene ADCY5 were changed from to 11310626; 24700542
Dystonia, chorea or related movement disorder, childhood onset v0.7 SGCE Ellen McDonagh Source PanelApp was added to SGCE.
Mode of inheritance for gene SGCE was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Added phenotypes Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900; Myoclonus dystonia syndrome for gene: SGCE
Publications for gene SGCE were changed from to 20301334; 11528394; 12325078
Dystonia, chorea or related movement disorder, childhood onset v0.7 TUBB4A Ellen McDonagh Source PanelApp was added to TUBB4A.
Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A
Publications for gene TUBB4A were changed from to 27809427; 24850488; 23582646; 24526230
Dystonia, chorea or related movement disorder, childhood onset v0.7 MR1 Ellen McDonagh Source PanelApp was added to MR1.
Mode of inheritance for gene MR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia; Paroxysmal/Episodic dystonia for gene: MR1
Dystonia, chorea or related movement disorder, childhood onset v0.7 KMT2B Ellen McDonagh Source PanelApp was added to KMT2B.
Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B
Publications for gene KMT2B were changed from to 27992417
Dystonia, chorea or related movement disorder, childhood onset v0.7 GNAO1 Ellen McDonagh Source PanelApp was added to GNAO1.
Mode of inheritance for gene GNAO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodevelopmental disorder with involuntary movements, 617493 for gene: GNAO1
Publications for gene GNAO1 were changed from to 26060304; 27625011; 25966631; 27068059; 28357411
Dystonia, chorea or related movement disorder, childhood onset v0.7 GLI3 Ellen McDonagh Source PanelApp was added to GLI3.
Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel for gene: GLI3
Dystonia, chorea or related movement disorder, childhood onset v0.7 FTL Ellen McDonagh Source PanelApp was added to FTL.
Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodegeneration with brain iron accumulation 3 606159 for gene: FTL
Dystonia, chorea or related movement disorder, childhood onset v0.7 DCTN1 Ellen McDonagh Source PanelApp was added to DCTN1.
Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Dystonia, chorea or related movement disorder, childhood onset v0.7 CHMP2B Ellen McDonagh Source PanelApp was added to CHMP2B.
Mode of inheritance for gene CHMP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia; familial frontotemporal lobar degeneration (ALS17) for gene: CHMP2B
Dystonia, chorea or related movement disorder, childhood onset v0.7 ANO3 Ellen McDonagh Source PanelApp was added to ANO3.
Mode of inheritance for gene ANO3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3
Publications for gene ANO3 were changed from to 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 27392807; 24442708
Dystonia, chorea or related movement disorder, childhood onset v0.7 MT-ND6 Ellen McDonagh Source PanelApp was added to MT-ND6.
Added phenotypes Leber Optic Atrophy And Dystonia for gene: MT-ND6
Dystonia, chorea or related movement disorder, childhood onset v0.7 ZNF423 Ellen McDonagh Source PanelApp was added to ZNF423.
Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 19; Nephronophthisis 14; Nephronophthisis 14, 614844; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect for gene: ZNF423
Dystonia, chorea or related movement disorder, childhood onset v0.7 SPR Ellen McDonagh Source PanelApp was added to SPR.
Mode of inheritance for gene SPR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia; Movement disorder, autonomic dysfunction, developmental delay, behavioural difficulties; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Sepiapterin reductase deficiency; paediatric form of dopa responsive dystonia for gene: SPR
Publications for gene SPR were changed from to 15241655; 18502672; 27830117; 20301334; 11443547; 22522443; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC6A5 Ellen McDonagh Source PanelApp was added to SLC6A5.
Mode of inheritance for gene SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
Publications for gene SLC6A5 were changed from to 16751771
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC2A1 Ellen McDonagh Source PanelApp was added to SLC2A1.
Mode of inheritance for gene SLC2A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes GLUT1 deficiency syndrome 2, childhood onset; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Publications for gene SLC2A1 were changed from to 19630075; 20301334; 18451999; 18577546
Dystonia, chorea or related movement disorder, childhood onset v0.7 GLRA1 Ellen McDonagh Source PanelApp was added to GLRA1.
Mode of inheritance for gene GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia, hereditary 1, 149400 for gene: GLRA1
Publications for gene GLRA1 were changed from to 20301437
Dystonia, chorea or related movement disorder, childhood onset v0.7 GCH1 Ellen McDonagh Source PanelApp was added to GCH1.
Mode of inheritance for gene GCH1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Dopa-Responsive Dystonia (DRD); Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; GTP-cyclohydrolase deficiency for gene: GCH1
Publications for gene GCH1 were changed from to 3762960; 8163996; 7730309; 10987649; 942621; 9667588; 3822637; 7874165; 17111153; 6734669; 1899474; 945938; 3400489; 7869202; 10208576; 20301334; 27830117; 12552057; 20301681; 10732814; 12084887; 3041760; 16908750; 11346370; 11113234; 2296384; 15753436
Dystonia, chorea or related movement disorder, childhood onset v0.7 C19orf12 Ellen McDonagh Source PanelApp was added to C19orf12.
Mode of inheritance for gene C19orf12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia for gene: C19orf12
Dystonia, chorea or related movement disorder, childhood onset v0.7 WDR73 Ellen McDonagh Source PanelApp was added to WDR73.
Mode of inheritance for gene WDR73 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galloway-Mowat syndrome 1, 251300 for gene: WDR73
Dystonia, chorea or related movement disorder, childhood onset v0.7 VPS13B Ellen McDonagh Source PanelApp was added to VPS13B.
Mode of inheritance for gene VPS13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cohen syndrome, 216550; COHEN SYNDROME for gene: VPS13B
Dystonia, chorea or related movement disorder, childhood onset v0.7 VPS13A Ellen McDonagh Source PanelApp was added to VPS13A.
Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Choreoacanthocytosis 200150; complex parkinsonism for gene: VPS13A
Publications for gene VPS13A were changed from to 14663054; 11381253; 11381254
Dystonia, chorea or related movement disorder, childhood onset v0.7 VAC14 Ellen McDonagh Source PanelApp was added to VAC14.
Mode of inheritance for gene VAC14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatonigral degeneration, childhood-onset 617054 for gene: VAC14
Publications for gene VAC14 were changed from to 17956977; 27292112; 19037259
Dystonia, chorea or related movement disorder, childhood onset v0.7 TXNDC15 Ellen McDonagh Source PanelApp was added to TXNDC15.
Mode of inheritance for gene TXNDC15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15
Publications for gene TXNDC15 were changed from to 27894351
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM67 Ellen McDonagh Source PanelApp was added to TMEM67.
Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67
Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM237 Ellen McDonagh Source PanelApp was added to TMEM237.
Mode of inheritance for gene TMEM237 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 14; Joubert syndrome; Joubert syndrome with oculorenal defect for gene: TMEM237
Publications for gene TMEM237 were changed from to 20301500; 22152675
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM231 Ellen McDonagh Source PanelApp was added to TMEM231.
Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 20; Meckel syndrome 11, 615397; Joubert syndrome 20, 614970; Meckel syndrome; Joubert syndrome with oculorenal defect for gene: TMEM231
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM216 Ellen McDonagh Source PanelApp was added to TMEM216.
Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome 2; Joubert syndrome with oculorenal defect; Meckel syndrome for gene: TMEM216
Publications for gene TMEM216 were changed from to 22282472; 20512146; 20036350
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM138 Ellen McDonagh Source PanelApp was added to TMEM138.
Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 16; Joubert syndrome with oculorenal defect for gene: TMEM138
Publications for gene TMEM138 were changed from to 22282472
Dystonia, chorea or related movement disorder, childhood onset v0.7 TMEM107 Ellen McDonagh Source PanelApp was added to TMEM107.
Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome XVI 617563; ?Joubert syndrome 29 617562; Meckel syndrome 13 617562 for gene: TMEM107
Publications for gene TMEM107 were changed from to 22698544; 26595381; 26123494; 26518474
Dystonia, chorea or related movement disorder, childhood onset v0.7 TH Ellen McDonagh Source PanelApp was added to TH.
Mode of inheritance for gene TH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes DOPA-responsive dystonia; Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; Segawa syndrome; paediatric form of dopa responsive dystonia for gene: TH
Publications for gene TH were changed from to 27830117; 20301334; 8528210; 21937992; 9732974; 9703425; 8817341; 17696123; 7814018; 11246459; 10585338
Dystonia, chorea or related movement disorder, childhood onset v0.7 TCTN3 Ellen McDonagh Source PanelApp was added to TCTN3.
Mode of inheritance for gene TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel-Gruber; Joubert syndrome; Joubert syndrome 18; Orofaciodigital syndrome IV; Mohr-Majewski syndrome for gene: TCTN3
Publications for gene TCTN3 were changed from to 22883145; 25118024
Dystonia, chorea or related movement disorder, childhood onset v0.7 TCTN2 Ellen McDonagh Source PanelApp was added to TCTN2.
Mode of inheritance for gene TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome, Meckel-Gruber syndrome; Joubert syndrome 24 for gene: TCTN2
Publications for gene TCTN2 were changed from to 21565611; 25118024
Dystonia, chorea or related movement disorder, childhood onset v0.7 TCTN1 Ellen McDonagh Source PanelApp was added to TCTN1.
Mode of inheritance for gene TCTN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome for gene: TCTN1
Publications for gene TCTN1 were changed from to 20301500; 22693042; 28631893; 21725307; 26477546; 26489806
Dystonia, chorea or related movement disorder, childhood onset v0.7 SYNJ1 Ellen McDonagh Source PanelApp was added to SYNJ1.
Mode of inheritance for gene SYNJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 20, early-onset; juvenile Parkinsonism for gene: SYNJ1
Publications for gene SYNJ1 were changed from to 27496670; 23804577; 23804563
Dystonia, chorea or related movement disorder, childhood onset v0.7 SURF1 Ellen McDonagh Source PanelApp was added to SURF1.
Mode of inheritance for gene SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
Dystonia, chorea or related movement disorder, childhood onset v0.7 SUFU Ellen McDonagh Source PanelApp was added to SUFU.
Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 32, 617757 for gene: SUFU
Dystonia, chorea or related movement disorder, childhood onset v0.7 SUCLG1 Ellen McDonagh Source PanelApp was added to SUCLG1.
Mode of inheritance for gene SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
Dystonia, chorea or related movement disorder, childhood onset v0.7 SUCLA2 Ellen McDonagh Source PanelApp was added to SUCLA2.
Mode of inheritance for gene SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: SUCLA2
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC6A3 Ellen McDonagh Source PanelApp was added to SLC6A3.
Mode of inheritance for gene SLC6A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes {Nicotine dependence, protection against}, 188890; Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135 for gene: SLC6A3
Publications for gene SLC6A3 were changed from to 21112253; 27830117; 24613933
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC39A14 Ellen McDonagh Source PanelApp was added to SLC39A14.
Mode of inheritance for gene SLC39A14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Publications for gene SLC39A14 were changed from to 27231142
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC30A10 Ellen McDonagh Source PanelApp was added to SLC30A10.
Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 for gene: SLC30A10
Publications for gene SLC30A10 were changed from to 22934317; 22341972; 25778823; 22341971; 22926781
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC25A19 Ellen McDonagh Source PanelApp was added to SLC25A19.
Mode of inheritance for gene SLC25A19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microcephaly, Amish type 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710 for gene: SLC25A19
Publications for gene SLC25A19 were changed from to 19798730; 12185364; 17035501
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC19A3 Ellen McDonagh Source PanelApp was added to SLC19A3.
Mode of inheritance for gene SLC19A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 for gene: SLC19A3
Dystonia, chorea or related movement disorder, childhood onset v0.7 SLC18A2 Ellen McDonagh Source PanelApp was added to SLC18A2.
Mode of inheritance for gene SLC18A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism); Vesicular monoamine transporter deficiency for gene: SLC18A2
Publications for gene SLC18A2 were changed from to 27830117; 28477711; 26497564; 23363473; 27520881; 24398404; 24018103; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 SERAC1 Ellen McDonagh Source PanelApp was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lesions in the basal ganglia; MEGDEL syndrome; MEGDHEL syndrome; Dystonia; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Publications for gene SERAC1 were changed from to 27186703; 16527507; 28482397; 28778788; 29205472; 22683713; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 SDHA Ellen McDonagh Source PanelApp was added to SDHA.
Mode of inheritance for gene SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Dystonia, chorea or related movement disorder, childhood onset v0.7 RPGRIP1L Ellen McDonagh Source PanelApp was added to RPGRIP1L.
Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260
Dystonia, chorea or related movement disorder, childhood onset v0.7 QDPR Ellen McDonagh Source PanelApp was added to QDPR.
Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia for gene: QDPR
Publications for gene QDPR were changed from to 11746132; 27830117; 2785251; 16917893; 11153907; 49470; 2116088; 7627180; 317358; 53532; 27604308; 10029353
Dystonia, chorea or related movement disorder, childhood onset v0.7 PTS Ellen McDonagh Source PanelApp was added to PTS.
Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 PRKRA Ellen McDonagh Source PanelApp was added to PRKRA.
Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia for gene: PRKRA
Publications for gene PRKRA were changed from to 22842711; 25737287; 20301334; 18420150; 18243799; 26990861; 25914261; 24142417; 25142429
Dystonia, chorea or related movement disorder, childhood onset v0.7 PRKN Ellen McDonagh Source PanelApp was added to PRKN.
Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN
Dystonia, chorea or related movement disorder, childhood onset v0.7 PMM2 Ellen McDonagh Source PanelApp was added to PMM2.
Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation, type Ia 212065 for gene: PMM2
Publications for gene PMM2 were changed from to 9140401
Dystonia, chorea or related movement disorder, childhood onset v0.7 PLA2G6 Ellen McDonagh Source PanelApp was added to PLA2G6.
Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 14, autosomal recessive 612953; Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; PLA2G6-associated neurodegeneration for gene: PLA2G6
Publications for gene PLA2G6 were changed from to 16783378; 18799783; 18570303
Dystonia, chorea or related movement disorder, childhood onset v0.7 PINK1 Ellen McDonagh Source PanelApp was added to PINK1.
Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Parkinson disease 6, early onset; Dystonia for gene: PINK1
Dystonia, chorea or related movement disorder, childhood onset v0.7 PDP1 Ellen McDonagh Source PanelApp was added to PDP1.
Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 for gene: PDP1
Publications for gene PDP1 were changed from to 19184109; 15855260
Dystonia, chorea or related movement disorder, childhood onset v0.7 PDE10A Ellen McDonagh Source PanelApp was added to PDE10A.
Mode of inheritance for gene PDE10A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 for gene: PDE10A
Publications for gene PDE10A were changed from to 27058447; 27058446
Dystonia, chorea or related movement disorder, childhood onset v0.7 PCCB Ellen McDonagh Source PanelApp was added to PCCB.
Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Propionicacidemia 606054 for gene: PCCB
Dystonia, chorea or related movement disorder, childhood onset v0.7 PCCA Ellen McDonagh Source PanelApp was added to PCCA.
Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Propionicacidemia 606054 for gene: PCCA
Publications for gene PCCA were changed from to 6790853; 15235904
Dystonia, chorea or related movement disorder, childhood onset v0.7 PARK7 Ellen McDonagh Source PanelApp was added to PARK7.
Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7
Dystonia, chorea or related movement disorder, childhood onset v0.7 PANK2 Ellen McDonagh Source PanelApp was added to PANK2.
Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; pantothenate kinase-associated neurodegeneration for gene: PANK2
Dystonia, chorea or related movement disorder, childhood onset v0.7 OCLN Ellen McDonagh Source PanelApp was added to OCLN.
Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Band-like calcification with simplified gyration and polymicrogyria 251290 for gene: OCLN
Publications for gene OCLN were changed from to 20727516
Dystonia, chorea or related movement disorder, childhood onset v0.7 NUP62 Ellen McDonagh Source PanelApp was added to NUP62.
Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Publications for gene NUP62 were changed from to 16786527; 12374138; 14718703
Dystonia, chorea or related movement disorder, childhood onset v0.7 NPHP3 Ellen McDonagh Source PanelApp was added to NPHP3.
Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 3, 604387; Senior-Loken syndrome; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia for gene: NPHP3
Dystonia, chorea or related movement disorder, childhood onset v0.7 NPHP1 Ellen McDonagh Source PanelApp was added to NPHP1.
Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 4; 609583 Nephronophthisis 1, juvenile; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; Nephronophthisis for gene: NPHP1
Publications for gene NPHP1 were changed from to 15689444; 15138899; 22982934
Dystonia, chorea or related movement disorder, childhood onset v0.7 NKX6-2 Ellen McDonagh Source PanelApp was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Publications for gene NKX6-2 were changed from to 15601927; 28575651
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFV1 Ellen McDonagh Source PanelApp was added to NDUFV1.
Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, 252010 for gene: NDUFV1
Publications for gene NDUFV1 were changed from to 10080174; 26345448
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFS8 Ellen McDonagh Source PanelApp was added to NDUFS8.
Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 for gene: NDUFS8
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFS7 Ellen McDonagh Source PanelApp was added to NDUFS7.
Mode of inheritance for gene NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 for gene: NDUFS7
Hereditary neuropathy or pain disorder v0.21 WARS Louise Daugherty commented on gene: WARS: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFS4 Ellen McDonagh Source PanelApp was added to NDUFS4.
Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome 256000 for gene: NDUFS4
Publications for gene NDUFS4 were changed from to 24020637
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFS3 Ellen McDonagh Source PanelApp was added to NDUFS3.
Added phenotypes Mitochondrial complex I deficiency 252010; Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFS3
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFAF6 Ellen McDonagh Source PanelApp was added to NDUFAF6.
Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFAF6
Publications for gene NDUFAF6 were changed from to 27623250; 26741492; 18614015
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFAF2 Ellen McDonagh Source PanelApp was added to NDUFAF2.
Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
Publications for gene NDUFAF2 were changed from to 16200211; 20818383; 20571988
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFA9 Ellen McDonagh Source PanelApp was added to NDUFA9.
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency 256000 for gene: NDUFA9
Publications for gene NDUFA9 were changed from to 22114105
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFA2 Ellen McDonagh Source PanelApp was added to NDUFA2.
Publications for gene NDUFA2 were changed from to 18513682
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFA12 Ellen McDonagh Source PanelApp was added to NDUFA12.
Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 for gene: NDUFA12
Publications for gene NDUFA12 were changed from to 21617257
Dystonia, chorea or related movement disorder, childhood onset v0.7 NDUFA10 Ellen McDonagh Source PanelApp was added to NDUFA10.
Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome 256000 for gene: NDUFA10
Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492
Dystonia, chorea or related movement disorder, childhood onset v0.7 MUT Ellen McDonagh Source PanelApp was added to MUT.
Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Methylmalonic aciduria, mut(0) type 251000 for gene: MUT
Dystonia, chorea or related movement disorder, childhood onset v0.7 MKS1 Ellen McDonagh Source PanelApp was added to MKS1.
Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments
Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1
Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886
Dystonia, chorea or related movement disorder, childhood onset v0.7 MECR Ellen McDonagh Source PanelApp was added to MECR.
Mode of inheritance for gene MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Dystonia, chorea or related movement disorder, childhood onset v0.7 KIF7 Ellen McDonagh Source PanelApp was added to KIF7.
Mode of inheritance for gene KIF7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Publications for gene KIF7 were changed from to 21633164
Dystonia, chorea or related movement disorder, childhood onset v0.7 KIAA0586 Ellen McDonagh Source PanelApp was added to KIAA0586.
Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome; Joubert syndrome 23; Short-rib dysplasia 14 with polydactyly for gene: KIAA0586
Publications for gene KIAA0586 were changed from to 26096313
Dystonia, chorea or related movement disorder, childhood onset v0.7 IVD Ellen McDonagh Source PanelApp was added to IVD.
Mode of inheritance for gene IVD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isovaleric acidemia 243500 for gene: IVD
Dystonia, chorea or related movement disorder, childhood onset v0.7 ISG15 Ellen McDonagh Source PanelApp was added to ISG15.
Mode of inheritance for gene ISG15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency 38 616126 for gene: ISG15
Publications for gene ISG15 were changed from to 22859821; 25307056
Dystonia, chorea or related movement disorder, childhood onset v0.7 INPP5E Ellen McDonagh Source PanelApp was added to INPP5E.
Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Joubert syndrome 1 for gene: INPP5E
Publications for gene INPP5E were changed from to 26748598; 23386033
Dystonia, chorea or related movement disorder, childhood onset v0.7 ICK Ellen McDonagh Source PanelApp was added to ICK.
Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) for gene: ICK
Publications for gene ICK were changed from to 27466187; 19185282; 27069622
Dystonia, chorea or related movement disorder, childhood onset v0.7 HYLS1 Ellen McDonagh Source PanelApp was added to HYLS1.
Mode of inheritance for gene HYLS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome; Hydrolethalus syndrome, 236680 for gene: HYLS1
Publications for gene HYLS1 were changed from to 18648327 - Hydrolethalus syndrome; 19656802 - impairment in ciligenesis; 15843405 - Hydrolethalus syndrome; 26830932 - report in two siblings with Joubert syndrome
Dystonia, chorea or related movement disorder, childhood onset v0.7 HTRA2 Ellen McDonagh Source PanelApp was added to HTRA2.
Mode of inheritance for gene HTRA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VIII 617248 for gene: HTRA2
Publications for gene HTRA2 were changed from to 27208207; 27696117
Dystonia, chorea or related movement disorder, childhood onset v0.7 HPCA Ellen McDonagh Source PanelApp was added to HPCA.
Mode of inheritance for gene HPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes adolescence-onset segmental dystonia; generalized dystonia with additional neurological features; Dystonia 2, torsion, autosomal recessive, 224500; childhood-onset generalized dystonia for gene: HPCA
Publications for gene HPCA were changed from to 25799108; 30145809
Dystonia, chorea or related movement disorder, childhood onset v0.7 HIBCH Ellen McDonagh Source PanelApp was added to HIBCH.
Mode of inheritance for gene HIBCH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 for gene: HIBCH
Dystonia, chorea or related movement disorder, childhood onset v0.7 GLRB Ellen McDonagh Source PanelApp was added to GLRB.
Mode of inheritance for gene GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperekplexia 2, 614619 for gene: GLRB
Publications for gene GLRB were changed from to 21391991; 23238346; 11929858
Dystonia, chorea or related movement disorder, childhood onset v0.7 GCDH Ellen McDonagh Source PanelApp was added to GCDH.
Mode of inheritance for gene GCDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: GCDH
Publications for gene GCDH were changed from to 8900227; 11174631; 8900228; 10699052; 7795610
Dystonia, chorea or related movement disorder, childhood onset v0.7 FOLR1 Ellen McDonagh Source PanelApp was added to FOLR1.
Mode of inheritance for gene FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068; Folate receptor alpha deficiency for gene: FOLR1
Publications for gene FOLR1 were changed from to 27830117; 21937992; 19732866; 2044715
Dystonia, chorea or related movement disorder, childhood onset v0.7 FBXO7 Ellen McDonagh Source PanelApp was added to FBXO7.
Mode of inheritance for gene FBXO7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes juvenile parkinsonism; Dystonia for gene: FBXO7
Dystonia, chorea or related movement disorder, childhood onset v0.7 FA2H Ellen McDonagh Source PanelApp was added to FA2H.
Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes fatty acid hydroxylase-associated neurodegeneration; Dystonia; Spastic paraplegia 35, autosomal recessive 612319 for gene: FA2H
Publications for gene FA2H were changed from to 19068277
Dystonia, chorea or related movement disorder, childhood onset v0.7 EVC2 Ellen McDonagh Source PanelApp was added to EVC2.
Mode of inheritance for gene EVC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530 for gene: EVC2
Dystonia, chorea or related movement disorder, childhood onset v0.7 EVC Ellen McDonagh Source PanelApp was added to EVC.
Mode of inheritance for gene EVC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530 for gene: EVC
Dystonia, chorea or related movement disorder, childhood onset v0.7 ETHE1 Ellen McDonagh Source PanelApp was added to ETHE1.
Mode of inheritance for gene ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ethylmalonic encephalopathy 602473 for gene: ETHE1
Dystonia, chorea or related movement disorder, childhood onset v0.7 DNAJC12 Ellen McDonagh Source PanelApp was added to DNAJC12.
Mode of inheritance for gene DNAJC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 for gene: DNAJC12
Publications for gene DNAJC12 were changed from to 28132689
Dystonia, chorea or related movement disorder, childhood onset v0.7 DLAT Ellen McDonagh Source PanelApp was added to DLAT.
Mode of inheritance for gene DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pyruvate dehydrogenase E2 deficiency 245348; Dystonia for gene: DLAT
Publications for gene DLAT were changed from to 16049940; 19891062
Dystonia, chorea or related movement disorder, childhood onset v0.7 DHFR Ellen McDonagh Source PanelApp was added to DHFR.
Mode of inheritance for gene DHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; Dihydrofolate reductase deficiency for gene: DHFR
Publications for gene DHFR were changed from to 21310277; 27830117; 21310276; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 DHCR7 Ellen McDonagh Source PanelApp was added to DHCR7.
Mode of inheritance for gene DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Smith-Lemli-Opitz syndrome 270400 for gene: DHCR7
Publications for gene DHCR7 were changed from to 9634533
Dystonia, chorea or related movement disorder, childhood onset v0.7 DDX59 Ellen McDonagh Source PanelApp was added to DDX59.
Mode of inheritance for gene DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59
Publications for gene DDX59 were changed from to 29127725; 28711741; 23972372
Dystonia, chorea or related movement disorder, childhood onset v0.7 DDC Ellen McDonagh Source PanelApp was added to DDC.
Mode of inheritance for gene DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia for gene: DDC
Publications for gene DDC were changed from to 27830117; 27604308; 24816252
Dystonia, chorea or related movement disorder, childhood onset v0.7 DCAF17 Ellen McDonagh Source PanelApp was added to DCAF17.
Mode of inheritance for gene DCAF17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Woodhouse-Sakati syndrome for gene: DCAF17
Hereditary neuropathy or pain disorder v0.21 VRK1 Louise Daugherty commented on gene: VRK1: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Dystonia, chorea or related movement disorder, childhood onset v0.7 DCAF10 Ellen McDonagh Source PanelApp was added to DCAF10.
Dystonia, chorea or related movement disorder, childhood onset v0.7 DBH Ellen McDonagh Source PanelApp was added to DBH.
Mode of inheritance for gene DBH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dopamine beta-hydroxylase deficiency, 223360 for gene: DBH
Publications for gene DBH were changed from to 27778639; 27830117; 27604308
Dystonia, chorea or related movement disorder, childhood onset v0.7 CSTB Ellen McDonagh Source PanelApp was added to CSTB.
Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800 for gene: CSTB
Publications for gene CSTB were changed from to 26843564
Dystonia, chorea or related movement disorder, childhood onset v0.7 CSPP1 Ellen McDonagh Source PanelApp was added to CSPP1.
Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 21 for gene: CSPP1
Publications for gene CSPP1 were changed from to 24360803; 24360808; 24360807
Dystonia, chorea or related movement disorder, childhood onset v0.7 CRB2 Ellen McDonagh Source PanelApp was added to CRB2.
Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ventriculomegaly with cystic kidney disease 219730 for gene: CRB2
Publications for gene CRB2 were changed from to 25557780
Dystonia, chorea or related movement disorder, childhood onset v0.7 CP Ellen McDonagh Source PanelApp was added to CP.
Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar ataxia 604290; Dystonia; [Hypoceruloplasminemia, hereditary] 604290; Aceruloplasminemia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 for gene: CP
Dystonia, chorea or related movement disorder, childhood onset v0.7 COX15 Ellen McDonagh Source PanelApp was added to COX15.
Mode of inheritance for gene COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 for gene: COX15
Dystonia, chorea or related movement disorder, childhood onset v0.7 COX10 Ellen McDonagh Source PanelApp was added to COX10.
Mode of inheritance for gene COX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex IV deficiency, 220110; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 for gene: COX10
Publications for gene COX10 were changed from to 10767350
Dystonia, chorea or related movement disorder, childhood onset v0.7 COASY Ellen McDonagh Source PanelApp was added to COASY.
Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodegeneration with brain iron accumulation 6 615643; COASY protein-associated neurodegeneration for gene: COASY
Publications for gene COASY were changed from to 27021474; 24360804
Dystonia, chorea or related movement disorder, childhood onset v0.7 CEP41 Ellen McDonagh Source PanelApp was added to CEP41.
Mode of inheritance for gene CEP41 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 15 for gene: CEP41
Publications for gene CEP41 were changed from to 22246503
Dystonia, chorea or related movement disorder, childhood onset v0.7 CEP290 Ellen McDonagh Source PanelApp was added to CEP290.
Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290
Publications for gene CEP290 were changed from to 18327255; 20690115
Dystonia, chorea or related movement disorder, childhood onset v0.7 CEP104 Ellen McDonagh Source PanelApp was added to CEP104.
Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 25; Joubert syndrome 25, 616781 for gene: CEP104
Publications for gene CEP104 were changed from to 26477546
Dystonia, chorea or related movement disorder, childhood onset v0.7 CENPF Ellen McDonagh Source PanelApp was added to CENPF.
Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome for gene: CENPF
Publications for gene CENPF were changed from to 26820108
Dystonia, chorea or related movement disorder, childhood onset v0.7 CC2D2A Ellen McDonagh Source PanelApp was added to CC2D2A.
Mode of inheritance for gene CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome; COACH syndrome; Joubert syndrome 9 for gene: CC2D2A
Dystonia, chorea or related movement disorder, childhood onset v0.7 C5orf42 Ellen McDonagh Source PanelApp was added to C5orf42.
Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 17; Oral-facial-digital syndrome type VI; Joubert syndrome for gene: C5orf42
Publications for gene C5orf42 were changed from to 22425360; 22693042; 25920555
Dystonia, chorea or related movement disorder, childhood onset v0.7 C2CD3 Ellen McDonagh Source PanelApp was added to C2CD3.
Mode of inheritance for gene C2CD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; short-rib polydactyly syndromes (SRPS; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) for gene: C2CD3
Publications for gene C2CD3 were changed from to 26044959; 27094867; 24997988
Dystonia, chorea or related movement disorder, childhood onset v0.7 BCS1L Ellen McDonagh Source PanelApp was added to BCS1L.
Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leigh syndrome, 256000; Bjornstad syndrome, 262000; Mitochondrial complex III deficiency, nuclear type 1, 124000 for gene: BCS1L
Dystonia, chorea or related movement disorder, childhood onset v0.7 B9D2 Ellen McDonagh Source PanelApp was added to B9D2.
Mode of inheritance for gene B9D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies for gene: B9D2
Publications for gene B9D2 were changed from to 26092869 - two further cases with Joubert syndrome reported from two different families; 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes
Dystonia, chorea or related movement disorder, childhood onset v0.7 ATP7B Ellen McDonagh Source PanelApp was added to ATP7B.
Mode of inheritance for gene ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Wilson disease 277900; Dystonia for gene: ATP7B
Publications for gene ATP7B were changed from to 20301685
Dystonia, chorea or related movement disorder, childhood onset v0.7 ATP13A2 Ellen McDonagh Source PanelApp was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kufor-Rakeb syndrome 606693; Parkinson disease; Dystonia for gene: ATP13A2
Publications for gene ATP13A2 were changed from to 21060012
Dystonia, chorea or related movement disorder, childhood onset v0.7 ATM Ellen McDonagh Source PanelApp was added to ATM.
Mode of inheritance for gene ATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
Dystonia, chorea or related movement disorder, childhood onset v0.7 ARL13B Ellen McDonagh Source PanelApp was added to ARL13B.
Mode of inheritance for gene ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 8 for gene: ARL13B
Publications for gene ARL13B were changed from to 25138100; 18674751
Dystonia, chorea or related movement disorder, childhood onset v0.7 APTX Ellen McDonagh Source PanelApp was added to APTX.
Mode of inheritance for gene APTX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia for gene: APTX
Dystonia, chorea or related movement disorder, childhood onset v0.7 AHI1 Ellen McDonagh Source PanelApp was added to AHI1.
Mode of inheritance for gene AHI1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3. for gene: AHI1
Dystonia, chorea or related movement disorder, childhood onset v0.7 ADAR Ellen McDonagh Source PanelApp was added to ADAR.
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010; dystonia for gene: ADAR
Publications for gene ADAR were changed from to 28139822; 23001123
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Classified gene: TRIM2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.21 TRIM2 Louise Daugherty Gene: trim2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.20 SYT2 Louise Daugherty commented on gene: SYT2: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Classified gene: SLC5A7 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.20 SLC5A7 Louise Daugherty Gene: slc5a7 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.19 SETX Louise Daugherty commented on gene: SETX: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Classified gene: SBF1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.19 SBF1 Louise Daugherty Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Classified gene: PRNP as Red List (low evidence)
Hereditary neuropathy or pain disorder v0.18 PRNP Louise Daugherty Gene: prnp has been classified as Red List (Low Evidence).
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Classified gene: PRNP as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
AlexRossor felt that there was sufficient evidence that this can cause a neuropathy but that this would be an unusual presentation – suggest that AR provide additional evidence for a Green rating on the WGS panel but make Red for the R78 panel
Hereditary neuropathy or pain disorder v0.17 PRNP Louise Daugherty Gene: prnp has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Classified gene: PMP2 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.16 PMP2 Louise Daugherty Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Classified gene: NEFH as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.15 NEFH Louise Daugherty Gene: nefh has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Classified gene: MCM3AP as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.14 MCM3AP Louise Daugherty Gene: mcm3ap has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Classified gene: GNB4 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.13 GNB4 Louise Daugherty Gene: gnb4 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Classified gene: DST as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.12 DST Louise Daugherty Gene: dst has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Classified gene: DRP2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.11 DRP2 Louise Daugherty Gene: drp2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Classified gene: DNAJB2 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.10 DNAJB2 Louise Daugherty Gene: dnajb2 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Classified gene: ATP1A1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.9 ATP1A1 Louise Daugherty Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Classified gene: ATL3 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.8 ATL3 Louise Daugherty Gene: atl3 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty changed review comment from: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.; to: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Classified gene: ARHGEF10 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Added comment: Comment on list classification: The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.7 ARHGEF10 Louise Daugherty Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, childhood onset v0.3 Ellen McDonagh List of related panels changed from to R57
Dystonia, chorea or related movement disorder, childhood onset v0.2 Ellen McDonagh Panel status changed from internal to public
Panel types changed to GMS Rare Disease
Dystonia, chorea or related movement disorder, childhood onset v0.1 VPS37A Ellen McDonagh gene: VPS37A was added
gene: VPS37A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898
Dystonia, chorea or related movement disorder, childhood onset v0.1 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia
Dystonia, chorea or related movement disorder, childhood onset v0.1 SLC46A1 Ellen McDonagh Source South West GLH was added to SLC46A1.
Mode of inheritance for gene SLC46A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
Dystonia, chorea or related movement disorder, childhood onset v0.1 SDHAF1 Ellen McDonagh Source South West GLH was added to SDHAF1.
Mode of inheritance for gene SDHAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
Dystonia, chorea or related movement disorder, childhood onset v0.1 SCP2 Ellen McDonagh Source South West GLH was added to SCP2.
Mode of inheritance for gene SCP2 was changed from to Unknown
Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2
Dystonia, chorea or related movement disorder, childhood onset v0.1 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Erythermalgia, Primary; Erythermalgia, primary, 133020; Hereditary Sensory Neuropathy; Insensitivity to pain, channelopathy-associated, 243000; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; Febrile seizures, familial, 3B, 613863; Paroxysmal Extreme Pain Disorder
Dystonia, chorea or related movement disorder, childhood onset v0.1 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PTEN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTEN were set to Lhermitte-Duclos syndrome, 158350; Cowden syndrome 1, 158350; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 276950
Dystonia, chorea or related movement disorder, childhood onset v0.1 PSEN1 Ellen McDonagh gene: PSEN1 was added
gene: PSEN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PSEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, 607822; Pick disease, 172700; Dementia, frontotemporal 600274; Cardiomyopathy, dilated, 1U, 613694
Dystonia, chorea or related movement disorder, childhood onset v0.1 PNPT1 Ellen McDonagh Source South West GLH was added to PNPT1.
Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1
Dystonia, chorea or related movement disorder, childhood onset v0.1 PITX3 Ellen McDonagh gene: PITX3 was added
gene: PITX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation
Dystonia, chorea or related movement disorder, childhood onset v0.1 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1 260370; MODY, type IV 606392
Dystonia, chorea or related movement disorder, childhood onset v0.1 PDHX Ellen McDonagh Source South West GLH was added to PDHX.
Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
Dystonia, chorea or related movement disorder, childhood onset v0.1 PARK7 Ellen McDonagh gene: PARK7 was added
gene: PARK7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset
Dystonia, chorea or related movement disorder, childhood onset v0.1 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile 271930
Dystonia, chorea or related movement disorder, childhood onset v0.1 NDUFS3 Ellen McDonagh Source South West GLH was added to NDUFS3.
Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3
Dystonia, chorea or related movement disorder, childhood onset v0.1 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Dystonia, chorea or related movement disorder, childhood onset v0.1 NDUFA2 Ellen McDonagh Source South West GLH was added to NDUFA2.
Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2
Dystonia, chorea or related movement disorder, childhood onset v0.1 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Dystonia, chorea or related movement disorder, childhood onset v0.1 MR1 Ellen McDonagh gene: MR1 was added
gene: MR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: MR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.1 MPV17 Ellen McDonagh Source South West GLH was added to MPV17.
Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
Dystonia, chorea or related movement disorder, childhood onset v0.1 MMADHC Ellen McDonagh Source South West GLH was added to MMADHC.
Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Methylmalonic aciduria, cblD type, variant 2; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Dystonia, chorea or related movement disorder, childhood onset v0.1 MCOLN1 Ellen McDonagh Source South West GLH was added to MCOLN1.
Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Dystonia, chorea or related movement disorder, childhood onset v0.1 MAT1A Ellen McDonagh Source South West GLH was added to MAT1A.
Mode of inheritance for gene MAT1A was changed from to Unknown
Added phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
Dystonia, chorea or related movement disorder, childhood onset v0.1 KCNK18 Ellen McDonagh Source South West GLH was added to KCNK18.
Mode of inheritance for gene KCNK18 was changed from to Unknown
Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Dystonia, chorea or related movement disorder, childhood onset v0.1 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100
Dystonia, chorea or related movement disorder, childhood onset v0.1 GFAP Ellen McDonagh Source South West GLH was added to GFAP.
Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alexander disease, 203450 for gene: GFAP
Dystonia, chorea or related movement disorder, childhood onset v0.1 GAMT Ellen McDonagh Source South West GLH was added to GAMT.
Mode of inheritance for gene GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 for gene: GAMT
Dystonia, chorea or related movement disorder, childhood onset v0.1 FOXRED1 Ellen McDonagh Source South West GLH was added to FOXRED1.
Mode of inheritance for gene FOXRED1 was changed from to Unknown
Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
Dystonia, chorea or related movement disorder, childhood onset v0.1 FASTKD2 Ellen McDonagh Source South West GLH was added to FASTKD2.
Mode of inheritance for gene FASTKD2 was changed from to Unknown
Added phenotypes Dystonia for gene: FASTKD2
Dystonia, chorea or related movement disorder, childhood onset v0.1 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ERCC6 was set to Unknown
Phenotypes for gene: ERCC6 were set to Dystonia
Dystonia, chorea or related movement disorder, childhood onset v0.1 EARS2 Ellen McDonagh Source South West GLH was added to EARS2.
Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Dystonia, chorea or related movement disorder, childhood onset v0.1 DRD5 Ellen McDonagh gene: DRD5 was added
gene: DRD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DRD5 was set to Unknown
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Dystonia, chorea or related movement disorder, childhood onset v0.1 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DRD2 was set to Unknown
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Dystonia, chorea or related movement disorder, childhood onset v0.1 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB
Dystonia, chorea or related movement disorder, childhood onset v0.1 DCAF10 Ellen McDonagh gene: DCAF10 was added
gene: DCAF10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Dystonia, chorea or related movement disorder, childhood onset v0.1 CIZ1 Ellen McDonagh Source South West GLH was added to CIZ1.
Mode of inheritance for gene CIZ1 was changed from to Unknown
Added phenotypes Dystonia 23, 614860 for gene: CIZ1
Dystonia, chorea or related movement disorder, childhood onset v0.1 BDNF Ellen McDonagh gene: BDNF was added
gene: BDNF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital, 209880
Dystonia, chorea or related movement disorder, childhood onset v0.1 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy, 125370
Dystonia, chorea or related movement disorder, childhood onset v0.1 AIFM1 Ellen McDonagh Source South West GLH was added to AIFM1.
Mode of inheritance for gene AIFM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Combined oxidative phosphorylation deficiency 6 300816 for gene: AIFM1
Dystonia, chorea or related movement disorder, childhood onset v0.1 AFG3L2 Ellen McDonagh Source South West GLH was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from to Unknown
Added phenotypes Dystonia for gene: AFG3L2
Dystonia, chorea or related movement disorder, childhood onset v0.1 TREX1 Ellen McDonagh Source South West GLH was added to TREX1.
Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Dystonia, chorea or related movement disorder, childhood onset v0.1 TPK1 Ellen McDonagh Source South West GLH was added to TPK1.
Mode of inheritance for gene TPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
Dystonia, chorea or related movement disorder, childhood onset v0.1 TIMM8A Ellen McDonagh Source South West GLH was added to TIMM8A.
Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
Dystonia, chorea or related movement disorder, childhood onset v0.1 TAF1 Ellen McDonagh Source South West GLH was added to TAF1.
Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Dystonia, chorea or related movement disorder, childhood onset v0.1 SAMHD1 Ellen McDonagh Source South West GLH was added to SAMHD1.
Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Dystonia, chorea or related movement disorder, childhood onset v0.1 RNASEH2C Ellen McDonagh Source South West GLH was added to RNASEH2C.
Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Dystonia, chorea or related movement disorder, childhood onset v0.1 RNASEH2B Ellen McDonagh Source South West GLH was added to RNASEH2B.
Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Dystonia, chorea or related movement disorder, childhood onset v0.1 RNASEH2A Ellen McDonagh Source South West GLH was added to RNASEH2A.
Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Dystonia, chorea or related movement disorder, childhood onset v0.1 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080
Dystonia, chorea or related movement disorder, childhood onset v0.1 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to perithalamic hyperechogenicity; midbrain abnormalities; microcephaly; hypothalamic abnormalities; intellectual disability; periventricular hyperechogenicity. Microcephaly, seizures, spasticity, and brain calcification, 251280; epilepsy
Dystonia, chorea or related movement disorder, childhood onset v0.1 NPC2 Ellen McDonagh Source South West GLH was added to NPC2.
Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
Dystonia, chorea or related movement disorder, childhood onset v0.1 L2HGDH Ellen McDonagh Source South West GLH was added to L2HGDH.
Mode of inheritance for gene L2HGDH was changed from to Unknown
Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Dystonia, chorea or related movement disorder, childhood onset v0.1 HPRT1 Ellen McDonagh Source South West GLH was added to HPRT1.
Mode of inheritance for gene HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1
Dystonia, chorea or related movement disorder, childhood onset v0.1 HEXA Ellen McDonagh Source South West GLH was added to HEXA.
Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes [Hex A pseudodeficiency] 272800 AR; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800 for gene: HEXA
Dystonia, chorea or related movement disorder, childhood onset v0.1 FOXG1 Ellen McDonagh gene: FOXG1 was added
gene: FOXG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to Rett Syndrome, congenital variant, 613454
Dystonia, chorea or related movement disorder, childhood onset v0.1 CYP27A1 Ellen McDonagh Source South West GLH was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to Unknown
Added phenotypes Cerebrotendinous xanthomatosis, CTX, 213700 for gene: CYP27A1
Dystonia, chorea or related movement disorder, childhood onset v0.1 AUH Ellen McDonagh Source South West GLH was added to AUH.
Mode of inheritance for gene AUH was changed from to Unknown
Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Dystonia, chorea or related movement disorder, childhood onset v0.1 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to Partington Syndrome, 300382
Dystonia, chorea or related movement disorder, childhood onset v0.1 ARSA Ellen McDonagh Source South West GLH was added to ARSA.
Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Dystonia, chorea or related movement disorder, childhood onset v0.1 SUOX Ellen McDonagh Source South West GLH was added to SUOX.
Mode of inheritance for gene SUOX was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
Dystonia, chorea or related movement disorder, childhood onset v0.1 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Chorea, hereditary benign 118700
Dystonia, chorea or related movement disorder, childhood onset v0.1 GNAL Ellen McDonagh Source South West GLH was added to GNAL.
Mode of inheritance for gene GNAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dystonia 25, 615073 for gene: GNAL
Dystonia, chorea or related movement disorder, childhood onset v0.1 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Dystonia, chorea or related movement disorder, childhood onset v0.0 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ZNF423 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 YARS2 Ellen McDonagh gene: YARS2 was added
gene: YARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: YARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 XYLT2 Ellen McDonagh gene: XYLT2 was added
gene: XYLT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XYLT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 XYLT1 Ellen McDonagh gene: XYLT1 was added
gene: XYLT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XYLT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XPR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XPNPEP3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 XDH Ellen McDonagh gene: XDH was added
gene: XDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: XDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR81 Ellen McDonagh gene: WDR81 was added
gene: WDR81 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR81 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR35 Ellen McDonagh gene: WDR35 was added
gene: WDR35 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR35 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR34 Ellen McDonagh gene: WDR34 was added
gene: WDR34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR34 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR19 Ellen McDonagh gene: WDR19 was added
gene: WDR19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDR19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDPCP Ellen McDonagh gene: WDPCP was added
gene: WDPCP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: WDPCP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VRK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VPS53 Ellen McDonagh gene: VPS53 was added
gene: VPS53 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS53 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VPS33B Ellen McDonagh gene: VPS33B was added
gene: VPS33B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS33B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VPS13B Ellen McDonagh gene: VPS13B was added
gene: VPS13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VPS13B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VLDLR Ellen McDonagh gene: VLDLR was added
gene: VLDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VLDLR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VKORC1 Ellen McDonagh gene: VKORC1 was added
gene: VKORC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VKORC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VIPAS39 Ellen McDonagh gene: VIPAS39 was added
gene: VIPAS39 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VIPAS39 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VARS2 Ellen McDonagh gene: VARS2 was added
gene: VARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: VARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UROS Ellen McDonagh gene: UROS was added
gene: UROS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UROD Ellen McDonagh gene: UROD was added
gene: UROD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UROC1 Ellen McDonagh gene: UROC1 was added
gene: UROC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UROC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UQCRQ Ellen McDonagh gene: UQCRQ was added
gene: UQCRQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UQCRQ was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UQCRB Ellen McDonagh gene: UQCRB was added
gene: UQCRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UQCRB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UMPS Ellen McDonagh gene: UMPS was added
gene: UMPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UMPS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UMOD Ellen McDonagh gene: UMOD was added
gene: UMOD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UMOD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 UGT1A1 Ellen McDonagh gene: UGT1A1 was added
gene: UGT1A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: UGT1A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TYMP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TXNDC15 Ellen McDonagh gene: TXNDC15 was added
gene: TXNDC15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TXNDC15 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TWNK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUSC3 Ellen McDonagh gene: TUSC3 was added
gene: TUSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUSC3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUFM Ellen McDonagh gene: TUFM was added
gene: TUFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUFM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUBB3 Ellen McDonagh gene: TUBB3 was added
gene: TUBB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBB3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUBB2B Ellen McDonagh gene: TUBB2B was added
gene: TUBB2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBB2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUBA8 Ellen McDonagh gene: TUBA8 was added
gene: TUBA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBA8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TUBA1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTPA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTC8 Ellen McDonagh gene: TTC8 was added
gene: TTC8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTC37 Ellen McDonagh gene: TTC37 was added
gene: TTC37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC37 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTC21B Ellen McDonagh gene: TTC21B was added
gene: TTC21B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC21B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTC19 Ellen McDonagh gene: TTC19 was added
gene: TTC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TTC19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TSFM Ellen McDonagh gene: TSFM was added
gene: TSFM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSFM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TSEN54 Ellen McDonagh gene: TSEN54 was added
gene: TSEN54 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN54 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TSEN34 Ellen McDonagh gene: TSEN34 was added
gene: TSEN34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN34 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TSEN2 Ellen McDonagh gene: TSEN2 was added
gene: TSEN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TSEN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TRPM6 Ellen McDonagh gene: TRPM6 was added
gene: TRPM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRPM6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TRNT1 Ellen McDonagh gene: TRNT1 was added
gene: TRNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRNT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TRMU Ellen McDonagh gene: TRMU was added
gene: TRMU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRMU was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRIM37 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TRAF3IP1 Ellen McDonagh gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TRAF3IP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TOE1 Ellen McDonagh gene: TOE1 was added
gene: TOE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TOE1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM70 Ellen McDonagh gene: TMEM70 was added
gene: TMEM70 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM70 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM67 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM237 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM231 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM216 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM165 Ellen McDonagh gene: TMEM165 was added
gene: TMEM165 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM165 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM138 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM126B Ellen McDonagh gene: TMEM126B was added
gene: TMEM126B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM126B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM107 Ellen McDonagh gene: TMEM107 was added
gene: TMEM107 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TMEM107 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TK2 Ellen McDonagh gene: TK2 was added
gene: TK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TK2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TINF2 Ellen McDonagh gene: TINF2 was added
gene: TINF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TINF2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TIMM50 Ellen McDonagh gene: TIMM50 was added
gene: TIMM50 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TIMM50 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TFR2 Ellen McDonagh gene: TFR2 was added
gene: TFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TFR2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TERT Ellen McDonagh gene: TERT was added
gene: TERT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TERT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTN1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TCTEX1D2 Ellen McDonagh gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCTEX1D2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TCN2 Ellen McDonagh gene: TCN2 was added
gene: TCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TCN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TAZ was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TARS2 Ellen McDonagh gene: TARS2 was added
gene: TARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TANGO2 Ellen McDonagh gene: TANGO2 was added
gene: TANGO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TANGO2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TALDO1 Ellen McDonagh gene: TALDO1 was added
gene: TALDO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TALDO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TACO1 Ellen McDonagh gene: TACO1 was added
gene: TACO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: TACO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SYNE1 Ellen McDonagh gene: SYNE1 was added
gene: SYNE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SYNE1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUOX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUMF1 Ellen McDonagh gene: SUMF1 was added
gene: SUMF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUMF1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUFU Ellen McDonagh gene: SUFU was added
gene: SUFU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUFU was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SUCLG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 STT3A Ellen McDonagh gene: STT3A was added
gene: STT3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: STT3A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 STS Ellen McDonagh gene: STS was added
gene: STS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: STS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ST3GAL5 Ellen McDonagh gene: ST3GAL5 was added
gene: ST3GAL5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ST3GAL5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ST3GAL3 Ellen McDonagh gene: ST3GAL3 was added
gene: ST3GAL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ST3GAL3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SSR4 Ellen McDonagh gene: SSR4 was added
gene: SSR4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SSR4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SRD5A3 Ellen McDonagh gene: SRD5A3 was added
gene: SRD5A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SRD5A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTLC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTLC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SPTBN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SMPD4 Ellen McDonagh gene: SMPD4 was added
gene: SMPD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SMPD4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SMPD1 Ellen McDonagh gene: SMPD1 was added
gene: SMPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SMPD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC9A6 Ellen McDonagh gene: SLC9A6 was added
gene: SLC9A6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC9A6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC7A9 Ellen McDonagh gene: SLC7A9 was added
gene: SLC7A9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC7A9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC7A7 Ellen McDonagh gene: SLC7A7 was added
gene: SLC7A7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC7A7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC6A20 Ellen McDonagh gene: SLC6A20 was added
gene: SLC6A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC6A20 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC6A19 Ellen McDonagh gene: SLC6A19 was added
gene: SLC6A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC6A19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC5A1 Ellen McDonagh gene: SLC5A1 was added
gene: SLC5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC5A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC52A3 Ellen McDonagh gene: SLC52A3 was added
gene: SLC52A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC52A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC52A2 Ellen McDonagh gene: SLC52A2 was added
gene: SLC52A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC52A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC40A1 Ellen McDonagh gene: SLC40A1 was added
gene: SLC40A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC40A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC3A1 Ellen McDonagh gene: SLC3A1 was added
gene: SLC3A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC3A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC39A8 Ellen McDonagh gene: SLC39A8 was added
gene: SLC39A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC39A8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC39A4 Ellen McDonagh gene: SLC39A4 was added
gene: SLC39A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC39A4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC37A4 Ellen McDonagh gene: SLC37A4 was added
gene: SLC37A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC37A4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC35D1 Ellen McDonagh gene: SLC35D1 was added
gene: SLC35D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35D1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC35C1 Ellen McDonagh gene: SLC35C1 was added
gene: SLC35C1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35C1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC35A2 Ellen McDonagh gene: SLC35A2 was added
gene: SLC35A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC35A1 Ellen McDonagh gene: SLC35A1 was added
gene: SLC35A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC35A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC2A2 Ellen McDonagh gene: SLC2A2 was added
gene: SLC2A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC2A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A46 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A38 Ellen McDonagh gene: SLC25A38 was added
gene: SLC25A38 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A38 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A3 Ellen McDonagh gene: SLC25A3 was added
gene: SLC25A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A26 Ellen McDonagh gene: SLC25A26 was added
gene: SLC25A26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A26 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A22 Ellen McDonagh gene: SLC25A22 was added
gene: SLC25A22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A22 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A20 Ellen McDonagh gene: SLC25A20 was added
gene: SLC25A20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A20 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A15 Ellen McDonagh gene: SLC25A15 was added
gene: SLC25A15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A15 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A13 Ellen McDonagh gene: SLC25A13 was added
gene: SLC25A13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A13 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A12 Ellen McDonagh gene: SLC25A12 was added
gene: SLC25A12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC25A1 Ellen McDonagh gene: SLC25A1 was added
gene: SLC25A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC25A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC22A5 Ellen McDonagh gene: SLC22A5 was added
gene: SLC22A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC22A5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC19A2 Ellen McDonagh gene: SLC19A2 was added
gene: SLC19A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC19A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC18A2 Ellen McDonagh gene: SLC18A2 was added
gene: SLC18A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC18A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC17A5 Ellen McDonagh gene: SLC17A5 was added
gene: SLC17A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC17A5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC16A1 Ellen McDonagh gene: SLC16A1 was added
gene: SLC16A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC16A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC12A3 Ellen McDonagh gene: SLC12A3 was added
gene: SLC12A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SLC12A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SKIV2L Ellen McDonagh gene: SKIV2L was added
gene: SKIV2L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SKIV2L was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SI Ellen McDonagh gene: SI was added
gene: SI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SI was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SGSH Ellen McDonagh gene: SGSH was added
gene: SGSH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SGSH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SEPSECS Ellen McDonagh gene: SEPSECS was added
gene: SEPSECS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SEPSECS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SEC23B Ellen McDonagh gene: SEC23B was added
gene: SEC23B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SEC23B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHC Ellen McDonagh gene: SDHC was added
gene: SDHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHAF2 Ellen McDonagh gene: SDHAF2 was added
gene: SDHAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHAF2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SCO2 Ellen McDonagh gene: SCO2 was added
gene: SCO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCO2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SCO1 Ellen McDonagh gene: SCO1 was added
gene: SCO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SCO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SC5D Ellen McDonagh gene: SC5D was added
gene: SC5D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SC5D was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SBDS Ellen McDonagh gene: SBDS was added
gene: SBDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SBDS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SARS2 Ellen McDonagh gene: SARS2 was added
gene: SARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SAR1B Ellen McDonagh gene: SAR1B was added
gene: SAR1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SAR1B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RYR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RRM2B Ellen McDonagh gene: RRM2B was added
gene: RRM2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RRM2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RPL10 Ellen McDonagh gene: RPL10 was added
gene: RPL10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPL10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RPIA Ellen McDonagh gene: RPIA was added
gene: RPIA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPIA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RPGRIP1L was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ROBO3 Ellen McDonagh gene: ROBO3 was added
gene: ROBO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ROBO3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNF216 Ellen McDonagh gene: RNF216 was added
gene: RNF216 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNF216 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNF170 Ellen McDonagh gene: RNF170 was added
gene: RNF170 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNF170 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASEH1 Ellen McDonagh gene: RNASEH1 was added
gene: RNASEH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RNASEH1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RMND1 Ellen McDonagh gene: RMND1 was added
gene: RMND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RMND1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RFT1 Ellen McDonagh gene: RFT1 was added
gene: RFT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RFT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RELN Ellen McDonagh gene: RELN was added
gene: RELN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RELN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RBP4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RBCK1 Ellen McDonagh gene: RBCK1 was added
gene: RBCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RBCK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RARS2 Ellen McDonagh gene: RARS2 was added
gene: RARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RANBP2 Ellen McDonagh gene: RANBP2 was added
gene: RANBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: RANBP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 QARS Ellen McDonagh gene: QARS was added
gene: QARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: QARS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYGM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PYGL Ellen McDonagh gene: PYGL was added
gene: PYGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYGL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PYCR1 Ellen McDonagh gene: PYCR1 was added
gene: PYCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PYCR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PUS1 Ellen McDonagh gene: PUS1 was added
gene: PUS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PUS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PTF1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PSPH Ellen McDonagh gene: PSPH was added
gene: PSPH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSPH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PSAT1 Ellen McDonagh gene: PSAT1 was added
gene: PSAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSAT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PSAP Ellen McDonagh gene: PSAP was added
gene: PSAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PSAP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRPS1 Ellen McDonagh gene: PRPS1 was added
gene: PRPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRPS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRODH Ellen McDonagh gene: PRODH was added
gene: PRODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRODH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PRKAG2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPOX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PPA2 Ellen McDonagh gene: PPA2 was added
gene: PPA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PPA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POR Ellen McDonagh gene: POR was added
gene: POR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMGNT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POMGNT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POLG2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: POLG was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPO was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PNP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PMPCA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PMM2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PKHD1 Ellen McDonagh gene: PKHD1 was added
gene: PKHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKHD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PKD2 Ellen McDonagh gene: PKD2 was added
gene: PKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKD2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PKD1 Ellen McDonagh gene: PKD1 was added
gene: PKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PKD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGV Ellen McDonagh gene: PIGV was added
gene: PIGV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGV was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGT Ellen McDonagh gene: PIGT was added
gene: PIGT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGO Ellen McDonagh gene: PIGO was added
gene: PIGO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGO was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGN Ellen McDonagh gene: PIGN was added
gene: PIGN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGM Ellen McDonagh gene: PIGM was added
gene: PIGM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PIGA Ellen McDonagh gene: PIGA was added
gene: PIGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PIGA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHYH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHKG2 Ellen McDonagh gene: PHKG2 was added
gene: PHKG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKG2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHKB Ellen McDonagh gene: PHKB was added
gene: PHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHKA2 Ellen McDonagh gene: PHKA2 was added
gene: PHKA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHKA1 Ellen McDonagh gene: PHKA1 was added
gene: PHKA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHKA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PHGDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGM3 Ellen McDonagh gene: PGM3 was added
gene: PGM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGM3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGM1 Ellen McDonagh gene: PGM1 was added
gene: PGM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGM1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGK1 Ellen McDonagh gene: PGK1 was added
gene: PGK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGAP3 Ellen McDonagh gene: PGAP3 was added
gene: PGAP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAP3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGAP2 Ellen McDonagh gene: PGAP2 was added
gene: PGAP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PGAM2 Ellen McDonagh gene: PGAM2 was added
gene: PGAM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PGAM2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PFKM Ellen McDonagh gene: PFKM was added
gene: PFKM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PFKM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX6 Ellen McDonagh gene: PEX6 was added
gene: PEX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX5 Ellen McDonagh gene: PEX5 was added
gene: PEX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX3 Ellen McDonagh gene: PEX3 was added
gene: PEX3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX26 Ellen McDonagh gene: PEX26 was added
gene: PEX26 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX26 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX2 Ellen McDonagh gene: PEX2 was added
gene: PEX2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX16 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX13 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX11B Ellen McDonagh gene: PEX11B was added
gene: PEX11B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX11B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEX1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PEPD Ellen McDonagh gene: PEPD was added
gene: PEPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PEPD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDSS2 Ellen McDonagh gene: PDSS2 was added
gene: PDSS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDSS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDSS1 Ellen McDonagh gene: PDSS1 was added
gene: PDSS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDSS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDPR Ellen McDonagh gene: PDPR was added
gene: PDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDPR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDHB Ellen McDonagh gene: PDHB was added
gene: PDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDHB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PDGFRB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PCSK9 Ellen McDonagh gene: PCSK9 was added
gene: PCSK9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCSK9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PCK1 Ellen McDonagh gene: PCK1 was added
gene: PCK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PCBD1 Ellen McDonagh gene: PCBD1 was added
gene: PCBD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PCBD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PC Ellen McDonagh gene: PC was added
gene: PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PAX6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PARS2 Ellen McDonagh gene: PARS2 was added
gene: PARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PAH Ellen McDonagh gene: PAH was added
gene: PAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: PAH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OXCT1 Ellen McDonagh gene: OXCT1 was added
gene: OXCT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OXCT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OTC Ellen McDonagh gene: OTC was added
gene: OTC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OTC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OPLAH Ellen McDonagh gene: OPLAH was added
gene: OPLAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPLAH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OPHN1 Ellen McDonagh gene: OPHN1 was added
gene: OPHN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPHN1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OPA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OFD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OCRL Ellen McDonagh gene: OCRL was added
gene: OCRL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OCRL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: OAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NUBPL Ellen McDonagh gene: NUBPL was added
gene: NUBPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NUBPL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NT5C3A Ellen McDonagh gene: NT5C3A was added
gene: NT5C3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NT5C3A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NSDHL Ellen McDonagh gene: NSDHL was added
gene: NSDHL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NSDHL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NPHP4 Ellen McDonagh gene: NPHP4 was added
gene: NPHP4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NPHP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NHLRC1 Ellen McDonagh gene: NHLRC1 was added
gene: NHLRC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NHLRC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NFU1 Ellen McDonagh gene: NFU1 was added
gene: NFU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NFU1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NEU1 Ellen McDonagh gene: NEU1 was added
gene: NEU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEU1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NEK8 Ellen McDonagh gene: NEK8 was added
gene: NEK8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEK8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NEK1 Ellen McDonagh gene: NEK1 was added
gene: NEK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NEK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFV2 Ellen McDonagh gene: NDUFV2 was added
gene: NDUFV2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFV2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS6 Ellen McDonagh gene: NDUFS6 was added
gene: NDUFS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS2 Ellen McDonagh gene: NDUFS2 was added
gene: NDUFS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFB9 Ellen McDonagh gene: NDUFB9 was added
gene: NDUFB9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFB3 Ellen McDonagh gene: NDUFB3 was added
gene: NDUFB3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFB11 Ellen McDonagh gene: NDUFB11 was added
gene: NDUFB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFB11 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF4 Ellen McDonagh gene: NDUFAF4 was added
gene: NDUFAF4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF3 Ellen McDonagh gene: NDUFAF3 was added
gene: NDUFAF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF1 Ellen McDonagh gene: NDUFAF1 was added
gene: NDUFAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFAF1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFA4 Ellen McDonagh gene: NDUFA4 was added
gene: NDUFA4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFA11 Ellen McDonagh gene: NDUFA11 was added
gene: NDUFA11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFA11 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NARS2 Ellen McDonagh gene: NARS2 was added
gene: NARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NAGS Ellen McDonagh gene: NAGS was added
gene: NAGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGLU was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NAGA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MVK Ellen McDonagh gene: MVK was added
gene: MVK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MVK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MUT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TY Ellen McDonagh gene: MT-TY was added
gene: MT-TY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TW Ellen McDonagh gene: MT-TW was added
gene: MT-TW was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TV Ellen McDonagh gene: MT-TV was added
gene: MT-TV was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TT Ellen McDonagh gene: MT-TT was added
gene: MT-TT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TS2 Ellen McDonagh gene: MT-TS2 was added
gene: MT-TS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TR Ellen McDonagh gene: MT-TR was added
gene: MT-TR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TQ Ellen McDonagh gene: MT-TQ was added
gene: MT-TQ was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TP Ellen McDonagh gene: MT-TP was added
gene: MT-TP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTTP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TN Ellen McDonagh gene: MT-TN was added
gene: MT-TN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TM Ellen McDonagh gene: MT-TM was added
gene: MT-TM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TL2 Ellen McDonagh gene: MT-TL2 was added
gene: MT-TL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TH Ellen McDonagh gene: MT-TH was added
gene: MT-TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TG Ellen McDonagh gene: MT-TG was added
gene: MT-TG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TF Ellen McDonagh gene: MT-TF was added
gene: MT-TF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TE Ellen McDonagh gene: MT-TE was added
gene: MT-TE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TD Ellen McDonagh gene: MT-TD was added
gene: MT-TD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TA Ellen McDonagh gene: MT-TA was added
gene: MT-TA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTRR Ellen McDonagh gene: MTRR was added
gene: MTRR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTRR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-RNR2 Ellen McDonagh gene: MT-RNR2 was added
gene: MT-RNR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTR Ellen McDonagh gene: MTR was added
gene: MTR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTPAP Ellen McDonagh gene: MTPAP was added
gene: MTPAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTPAP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTO1 Ellen McDonagh gene: MTO1 was added
gene: MTO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND4L Ellen McDonagh gene: MT-ND4L was added
gene: MT-ND4L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND2 Ellen McDonagh gene: MT-ND2 was added
gene: MT-ND2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTHFR Ellen McDonagh gene: MTHFR was added
gene: MTHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MTHFR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-CYB Ellen McDonagh gene: MT-CYB was added
gene: MT-CYB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-CO2 Ellen McDonagh gene: MT-CO2 was added
gene: MT-CO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-CO1 Ellen McDonagh gene: MT-CO1 was added
gene: MT-CO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MSMO1 Ellen McDonagh gene: MSMO1 was added
gene: MSMO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MSMO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MRPS34 Ellen McDonagh gene: MRPS34 was added
gene: MRPS34 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPS34 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MRPS22 Ellen McDonagh gene: MRPS22 was added
gene: MRPS22 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPS22 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MRPL3 Ellen McDonagh gene: MRPL3 was added
gene: MRPL3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MRPL3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPV17 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MPI Ellen McDonagh gene: MPI was added
gene: MPI was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPI was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MPDU1 Ellen McDonagh gene: MPDU1 was added
gene: MPDU1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MPDU1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MOGS Ellen McDonagh gene: MOGS was added
gene: MOGS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOGS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MOCS2 Ellen McDonagh gene: MOCS2 was added
gene: MOCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOCS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MOCS1 Ellen McDonagh gene: MOCS1 was added
gene: MOCS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MOCS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMADHC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMACHC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MMAB Ellen McDonagh gene: MMAB was added
gene: MMAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMAB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MMAA Ellen McDonagh gene: MMAA was added
gene: MMAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MMAA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MLYCD Ellen McDonagh gene: MLYCD was added
gene: MLYCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MLYCD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MKS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MKKS Ellen McDonagh gene: MKKS was added
gene: MKKS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MKKS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MGME1 Ellen McDonagh gene: MGME1 was added
gene: MGME1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MGME1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MGAT2 Ellen McDonagh gene: MGAT2 was added
gene: MGAT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MGAT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFSD8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MFF Ellen McDonagh gene: MFF was added
gene: MFF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MFF was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MDH2 Ellen McDonagh gene: MDH2 was added
gene: MDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MDH2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MCEE Ellen McDonagh gene: MCEE was added
gene: MCEE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCEE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MCCC2 Ellen McDonagh gene: MCCC2 was added
gene: MCCC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCCC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MCCC1 Ellen McDonagh gene: MCCC1 was added
gene: MCCC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MCCC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAT1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAPKBP1 Ellen McDonagh gene: MAPKBP1 was added
gene: MAPKBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAPKBP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAOA Ellen McDonagh gene: MAOA was added
gene: MAOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAOA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MANBA Ellen McDonagh gene: MANBA was added
gene: MANBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MANBA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAN2B1 Ellen McDonagh gene: MAN2B1 was added
gene: MAN2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAN2B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAN1B1 Ellen McDonagh gene: MAN1B1 was added
gene: MAN1B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAN1B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MAGT1 Ellen McDonagh gene: MAGT1 was added
gene: MAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: MAGT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LZTFL1 Ellen McDonagh gene: LZTFL1 was added
gene: LZTFL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LZTFL1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LPL Ellen McDonagh gene: LPL was added
gene: LPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LPL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LPIN1 Ellen McDonagh gene: LPIN1 was added
gene: LPIN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LPIN1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LONP1 Ellen McDonagh gene: LONP1 was added
gene: LONP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LONP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LMBRD1 Ellen McDonagh gene: LMBRD1 was added
gene: LMBRD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LMBRD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LIPT1 Ellen McDonagh gene: LIPT1 was added
gene: LIPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LIPC Ellen McDonagh gene: LIPC was added
gene: LIPC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LIPA Ellen McDonagh gene: LIPA was added
gene: LIPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIPA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LIAS Ellen McDonagh gene: LIAS was added
gene: LIAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LIAS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LDLRAP1 Ellen McDonagh gene: LDLRAP1 was added
gene: LDLRAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDLRAP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LDLR Ellen McDonagh gene: LDLR was added
gene: LDLR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDLR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LDHA Ellen McDonagh gene: LDHA was added
gene: LDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LDHA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LCT Ellen McDonagh gene: LCT was added
gene: LCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LCT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LCAT Ellen McDonagh gene: LCAT was added
gene: LCAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LCAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LBR Ellen McDonagh gene: LBR was added
gene: LBR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LBR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LARS2 Ellen McDonagh gene: LARS2 was added
gene: LARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LARGE1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: LAMP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: L2HGDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KYNU Ellen McDonagh gene: KYNU was added
gene: KYNU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KYNU was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIF7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KIAA0586 Ellen McDonagh gene: KIAA0586 was added
gene: KIAA0586 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KIAA0586 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNQ3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNK18 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNJ10 Ellen McDonagh gene: KCNJ10 was added
gene: KCNJ10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KCNJ10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: KARS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IVD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ITPA Ellen McDonagh gene: ITPA was added
gene: ITPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ITPA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISPD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ISG15 Ellen McDonagh gene: ISG15 was added
gene: ISG15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISG15 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ISCU Ellen McDonagh gene: ISCU was added
gene: ISCU was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ISCU was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IQCB1 Ellen McDonagh gene: IQCB1 was added
gene: IQCB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IQCB1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 INVS Ellen McDonagh gene: INVS was added
gene: INVS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: INVS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: INPP5E was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT80 Ellen McDonagh gene: IFT80 was added
gene: IFT80 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT80 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT52 Ellen McDonagh gene: IFT52 was added
gene: IFT52 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT52 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT43 Ellen McDonagh gene: IFT43 was added
gene: IFT43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT43 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT27 Ellen McDonagh gene: IFT27 was added
gene: IFT27 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT27 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT172 Ellen McDonagh gene: IFT172 was added
gene: IFT172 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT172 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT140 Ellen McDonagh gene: IFT140 was added
gene: IFT140 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT140 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFT122 Ellen McDonagh gene: IFT122 was added
gene: IFT122 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IFT122 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IER3IP1 Ellen McDonagh gene: IER3IP1 was added
gene: IER3IP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IER3IP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IDUA Ellen McDonagh gene: IDUA was added
gene: IDUA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDUA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IDS Ellen McDonagh gene: IDS was added
gene: IDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IDH2 Ellen McDonagh gene: IDH2 was added
gene: IDH2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IDH2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ICK Ellen McDonagh gene: ICK was added
gene: ICK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ICK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IBA57 Ellen McDonagh gene: IBA57 was added
gene: IBA57 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IBA57 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: IARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HYLS1 Ellen McDonagh gene: HYLS1 was added
gene: HYLS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HYLS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HYAL1 Ellen McDonagh gene: HYAL1 was added
gene: HYAL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HYAL1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HSD3B7 Ellen McDonagh gene: HSD3B7 was added
gene: HSD3B7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD3B7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HSD17B4 Ellen McDonagh gene: HSD17B4 was added
gene: HSD17B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD17B4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HSD17B10 Ellen McDonagh gene: HSD17B10 was added
gene: HSD17B10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HSD17B10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPRT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HPD Ellen McDonagh gene: HPD was added
gene: HPD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HPD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HOGA1 Ellen McDonagh gene: HOGA1 was added
gene: HOGA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HOGA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HNF1B Ellen McDonagh gene: HNF1B was added
gene: HNF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HNF1B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HMGCS2 Ellen McDonagh gene: HMGCS2 was added
gene: HMGCS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMGCS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HMGCL Ellen McDonagh gene: HMGCL was added
gene: HMGCL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMGCL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HMBS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HLCS Ellen McDonagh gene: HLCS was added
gene: HLCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HLCS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HGSNAT Ellen McDonagh gene: HGSNAT was added
gene: HGSNAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HGSNAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HGD Ellen McDonagh gene: HGD was added
gene: HGD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HGD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HFE2 Ellen McDonagh gene: HFE2 was added
gene: HFE2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HFE2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HFE Ellen McDonagh gene: HFE was added
gene: HFE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HFE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HEXB Ellen McDonagh gene: HEXB was added
gene: HEXB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HEXB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HCCS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HAMP Ellen McDonagh gene: HAMP was added
gene: HAMP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HAMP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADHB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADHA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HADH Ellen McDonagh gene: HADH was added
gene: HADH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HADH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HAAO Ellen McDonagh gene: HAAO was added
gene: HAAO was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: HAAO was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GYS2 Ellen McDonagh gene: GYS2 was added
gene: GYS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GYS1 Ellen McDonagh gene: GYS1 was added
gene: GYS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GYG1 Ellen McDonagh gene: GYG1 was added
gene: GYG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GYG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GUSB Ellen McDonagh gene: GUSB was added
gene: GUSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GUSB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GTPBP3 Ellen McDonagh gene: GTPBP3 was added
gene: GTPBP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GTPBP3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GSS Ellen McDonagh gene: GSS was added
gene: GSS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GSS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GRHPR Ellen McDonagh gene: GRHPR was added
gene: GRHPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GRHPR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GPHN Ellen McDonagh gene: GPHN was added
gene: GPHN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPHN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GPD1 Ellen McDonagh gene: GPD1 was added
gene: GPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GPAA1 Ellen McDonagh gene: GPAA1 was added
gene: GPAA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GPAA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GOSR2 Ellen McDonagh gene: GOSR2 was added
gene: GOSR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GOSR2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNS Ellen McDonagh gene: GNS was added
gene: GNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNPTG Ellen McDonagh gene: GNPTG was added
gene: GNPTG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPTG was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNPTAB Ellen McDonagh gene: GNPTAB was added
gene: GNPTAB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPTAB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNPAT Ellen McDonagh gene: GNPAT was added
gene: GNPAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNPAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNMT Ellen McDonagh gene: GNMT was added
gene: GNMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNMT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNE Ellen McDonagh gene: GNE was added
gene: GNE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GNE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GMPPB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLYCTK Ellen McDonagh gene: GLYCTK was added
gene: GLYCTK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLYCTK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLUL Ellen McDonagh gene: GLUL was added
gene: GLUL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLUL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLUD1 Ellen McDonagh gene: GLUD1 was added
gene: GLUD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLUD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLRX5 Ellen McDonagh gene: GLRX5 was added
gene: GLRX5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLRX5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLRB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLIS2 Ellen McDonagh gene: GLIS2 was added
gene: GLIS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLIS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLI3 Ellen McDonagh gene: GLI3 was added
gene: GLI3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLI3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLDC Ellen McDonagh gene: GLDC was added
gene: GLDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLDC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GLA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GK Ellen McDonagh gene: GK was added
gene: GK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GIF Ellen McDonagh gene: GIF was added
gene: GIF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GIF was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GFPT1 Ellen McDonagh gene: GFPT1 was added
gene: GFPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFPT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GFM1 Ellen McDonagh gene: GFM1 was added
gene: GFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFM1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GFER Ellen McDonagh gene: GFER was added
gene: GFER was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFER was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GFAP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GDAP1 Ellen McDonagh gene: GDAP1 was added
gene: GDAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GDAP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GCLC Ellen McDonagh gene: GCLC was added
gene: GCLC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GCLC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GBE1 Ellen McDonagh gene: GBE1 was added
gene: GBE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GBE1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GBA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GATM Ellen McDonagh gene: GATM was added
gene: GATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GATM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GARS Ellen McDonagh gene: GARS was added
gene: GARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GARS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GAMT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALT Ellen McDonagh gene: GALT was added
gene: GALT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALNT3 Ellen McDonagh gene: GALNT3 was added
gene: GALNT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALNT3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALNS Ellen McDonagh gene: GALNS was added
gene: GALNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALNS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALK1 Ellen McDonagh gene: GALK1 was added
gene: GALK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALE Ellen McDonagh gene: GALE was added
gene: GALE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GALC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GABRG2 Ellen McDonagh gene: GABRG2 was added
gene: GABRG2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GABRG2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: GAA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 G6PC3 Ellen McDonagh gene: G6PC3 was added
gene: G6PC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: G6PC3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 G6PC Ellen McDonagh gene: G6PC was added
gene: G6PC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: G6PC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FUT8 Ellen McDonagh gene: FUT8 was added
gene: FUT8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FUT8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FUCA1 Ellen McDonagh gene: FUCA1 was added
gene: FUCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FUCA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FTCD Ellen McDonagh gene: FTCD was added
gene: FTCD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FTCD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FOXP2 Ellen McDonagh gene: FOXP2 was added
gene: FOXP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FOXP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FMO3 Ellen McDonagh gene: FMO3 was added
gene: FMO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FMO3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FLVCR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FLAD1 Ellen McDonagh gene: FLAD1 was added
gene: FLAD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FLAD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FKTN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FKRP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FH Ellen McDonagh gene: FH was added
gene: FH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FGFR2 Ellen McDonagh gene: FGFR2 was added
gene: FGFR2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FGFR2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FECH Ellen McDonagh gene: FECH was added
gene: FECH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FECH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FDXR Ellen McDonagh gene: FDXR was added
gene: FDXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FDXR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FBXL4 Ellen McDonagh gene: FBXL4 was added
gene: FBXL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FBXL4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FBP1 Ellen McDonagh gene: FBP1 was added
gene: FBP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FBP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FARS2 Ellen McDonagh gene: FARS2 was added
gene: FARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FAR1 Ellen McDonagh gene: FAR1 was added
gene: FAR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FAR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FAH Ellen McDonagh gene: FAH was added
gene: FAH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: FAH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EXOSC3 Ellen McDonagh gene: EXOSC3 was added
gene: EXOSC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EXOSC3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EVC2 Ellen McDonagh gene: EVC2 was added
gene: EVC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EVC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EVC Ellen McDonagh gene: EVC was added
gene: EVC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EVC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETHE1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ETFDH Ellen McDonagh gene: ETFDH was added
gene: ETFDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ETFB Ellen McDonagh gene: ETFB was added
gene: ETFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ETFA Ellen McDonagh gene: ETFA was added
gene: ETFA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ETFA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EPM2A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EPG5 Ellen McDonagh gene: EPG5 was added
gene: EPG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EPG5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ENO3 Ellen McDonagh gene: ENO3 was added
gene: ENO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ENO3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ELAC2 Ellen McDonagh gene: ELAC2 was added
gene: ELAC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ELAC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EIF2B5 Ellen McDonagh gene: EIF2B5 was added
gene: EIF2B5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EIF2B4 Ellen McDonagh gene: EIF2B4 was added
gene: EIF2B4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EIF2B3 Ellen McDonagh gene: EIF2B3 was added
gene: EIF2B3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EIF2B2 Ellen McDonagh gene: EIF2B2 was added
gene: EIF2B2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EIF2B1 Ellen McDonagh gene: EIF2B1 was added
gene: EIF2B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EIF2B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EBP Ellen McDonagh gene: EBP was added
gene: EBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EBP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: EARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DYNC2LI1 Ellen McDonagh gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYNC2LI1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DYNC2H1 Ellen McDonagh gene: DYNC2H1 was added
gene: DYNC2H1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYNC2H1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DYM Ellen McDonagh gene: DYM was added
gene: DYM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DYM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPYS Ellen McDonagh gene: DPYS was added
gene: DPYS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPYS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPYD Ellen McDonagh gene: DPYD was added
gene: DPYD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPYD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPM3 Ellen McDonagh gene: DPM3 was added
gene: DPM3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPM2 Ellen McDonagh gene: DPM2 was added
gene: DPM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPM1 Ellen McDonagh gene: DPM1 was added
gene: DPM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPM1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DPAGT1 Ellen McDonagh gene: DPAGT1 was added
gene: DPAGT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DPAGT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DOLK Ellen McDonagh gene: DOLK was added
gene: DOLK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DOLK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNMT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNM1L Ellen McDonagh gene: DNM1L was added
gene: DNM1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNM1L was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNAJC19 Ellen McDonagh gene: DNAJC19 was added
gene: DNAJC19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAJC19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNAH1 Ellen McDonagh gene: DNAH1 was added
gene: DNAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNAH1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNA2 Ellen McDonagh gene: DNA2 was added
gene: DNA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DNA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DMXL2 Ellen McDonagh gene: DMXL2 was added
gene: DMXL2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DMXL2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DKC1 Ellen McDonagh gene: DKC1 was added
gene: DKC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DKC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHTKD1 Ellen McDonagh gene: DHTKD1 was added
gene: DHTKD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHTKD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHODH Ellen McDonagh gene: DHODH was added
gene: DHODH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHODH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHFR Ellen McDonagh gene: DHFR was added
gene: DHFR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHFR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHDDS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHCR7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DHCR24 Ellen McDonagh gene: DHCR24 was added
gene: DHCR24 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DHCR24 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DGUOK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DDX59 Ellen McDonagh gene: DDX59 was added
gene: DDX59 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DDX59 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DDHD2 Ellen McDonagh gene: DDHD2 was added
gene: DDHD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DDHD2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DCXR Ellen McDonagh gene: DCXR was added
gene: DCXR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCXR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DCDC2 Ellen McDonagh gene: DCDC2 was added
gene: DCDC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCDC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DBT Ellen McDonagh gene: DBT was added
gene: DBT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DBT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DBH Ellen McDonagh gene: DBH was added
gene: DBH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DBH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DARS Ellen McDonagh gene: DARS was added
gene: DARS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DARS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DAG1 Ellen McDonagh gene: DAG1 was added
gene: DAG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DAG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 D2HGDH Ellen McDonagh gene: D2HGDH was added
gene: D2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CYP7B1 Ellen McDonagh gene: CYP7B1 was added
gene: CYP7B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYP7B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CYP2U1 Ellen McDonagh gene: CYP2U1 was added
gene: CYP2U1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYP2U1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CYCS Ellen McDonagh gene: CYCS was added
gene: CYCS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYCS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CYC1 Ellen McDonagh gene: CYC1 was added
gene: CYC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CYC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CUBN Ellen McDonagh gene: CUBN was added
gene: CUBN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CUBN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTSK Ellen McDonagh gene: CTSK was added
gene: CTSK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTSC Ellen McDonagh gene: CTSC was added
gene: CTSC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTSA Ellen McDonagh gene: CTSA was added
gene: CTSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTSA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTNS Ellen McDonagh gene: CTNS was added
gene: CTNS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTNS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTH Ellen McDonagh gene: CTH was added
gene: CTH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CTH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CSPP1 Ellen McDonagh gene: CSPP1 was added
gene: CSPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CSPP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CRB2 Ellen McDonagh gene: CRB2 was added
gene: CRB2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CRB2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CPT2 Ellen McDonagh gene: CPT2 was added
gene: CPT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CPT1A Ellen McDonagh gene: CPT1A was added
gene: CPT1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPT1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CPS1 Ellen McDonagh gene: CPS1 was added
gene: CPS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CPOX Ellen McDonagh gene: CPOX was added
gene: CPOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CPOX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CP Ellen McDonagh gene: CP was added
gene: CP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX7B Ellen McDonagh gene: COX7B was added
gene: COX7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX7B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX6B1 Ellen McDonagh gene: COX6B1 was added
gene: COX6B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX6B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX6A1 Ellen McDonagh gene: COX6A1 was added
gene: COX6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX6A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX20 Ellen McDonagh gene: COX20 was added
gene: COX20 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX20 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX14 Ellen McDonagh gene: COX14 was added
gene: COX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COX14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ9 Ellen McDonagh gene: COQ9 was added
gene: COQ9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ8B Ellen McDonagh gene: COQ8B was added
gene: COQ8B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ8B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ8A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ6 Ellen McDonagh gene: COQ6 was added
gene: COQ6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ4 Ellen McDonagh gene: COQ4 was added
gene: COQ4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COQ2 Ellen McDonagh gene: COQ2 was added
gene: COQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COQ2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG8 Ellen McDonagh gene: COG8 was added
gene: COG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG7 Ellen McDonagh gene: COG7 was added
gene: COG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG6 Ellen McDonagh gene: COG6 was added
gene: COG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG5 Ellen McDonagh gene: COG5 was added
gene: COG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG4 Ellen McDonagh gene: COG4 was added
gene: COG4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COG1 Ellen McDonagh gene: COG1 was added
gene: COG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COA6 Ellen McDonagh gene: COA6 was added
gene: COA6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COA6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COA3 Ellen McDonagh gene: COA3 was added
gene: COA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: COA3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CNNM2 Ellen McDonagh gene: CNNM2 was added
gene: CNNM2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CNNM2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLPP Ellen McDonagh gene: CLPP was added
gene: CLPP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLPP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLN6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLDN19 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLDN16 Ellen McDonagh gene: CLDN16 was added
gene: CLDN16 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLDN16 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLCN2 Ellen McDonagh gene: CLCN2 was added
gene: CLCN2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CLCN2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CISD2 Ellen McDonagh gene: CISD2 was added
gene: CISD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CISD2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHSY1 Ellen McDonagh gene: CHSY1 was added
gene: CHSY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHSY1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHST6 Ellen McDonagh gene: CHST6 was added
gene: CHST6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHST3 Ellen McDonagh gene: CHST3 was added
gene: CHST3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHST14 Ellen McDonagh gene: CHST14 was added
gene: CHST14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHST14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHMP2B Ellen McDonagh gene: CHMP2B was added
gene: CHMP2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHMP2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHMP1A Ellen McDonagh gene: CHMP1A was added
gene: CHMP1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHMP1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHKB Ellen McDonagh gene: CHKB was added
gene: CHKB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHKB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CHCHD10 Ellen McDonagh gene: CHCHD10 was added
gene: CHCHD10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CHCHD10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CFAP43 Ellen McDonagh gene: CFAP43 was added
gene: CFAP43 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CFAP43 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP83 Ellen McDonagh gene: CEP83 was added
gene: CEP83 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP83 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP41 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP290 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP164 Ellen McDonagh gene: CEP164 was added
gene: CEP164 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP164 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP120 Ellen McDonagh gene: CEP120 was added
gene: CEP120 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP120 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CEP104 Ellen McDonagh gene: CEP104 was added
gene: CEP104 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CEP104 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CENPF Ellen McDonagh gene: CENPF was added
gene: CENPF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CENPF was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CCDC115 Ellen McDonagh gene: CCDC115 was added
gene: CCDC115 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CCDC115 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CC2D2A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CBS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CAT Ellen McDonagh gene: CAT was added
gene: CAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CASK Ellen McDonagh gene: CASK was added
gene: CASK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CASK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CAMTA1 Ellen McDonagh gene: CAMTA1 was added
gene: CAMTA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CAMTA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CA5A Ellen McDonagh gene: CA5A was added
gene: CA5A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: CA5A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C5orf42 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C2CD3 Ellen McDonagh gene: C2CD3 was added
gene: C2CD3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C2CD3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C21orf2 Ellen McDonagh gene: C21orf2 was added
gene: C21orf2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C21orf2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C1QBP Ellen McDonagh gene: C1QBP was added
gene: C1QBP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C1QBP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: C12orf65 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BTD Ellen McDonagh gene: BTD was added
gene: BTD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BTD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BOLA3 Ellen McDonagh gene: BOLA3 was added
gene: BOLA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BOLA3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BCKDK Ellen McDonagh gene: BCKDK was added
gene: BCKDK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BCKDHB Ellen McDonagh gene: BCKDHB was added
gene: BCKDHB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDHB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BCKDHA Ellen McDonagh gene: BCKDHA was added
gene: BCKDHA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BCKDHA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS9 Ellen McDonagh gene: BBS9 was added
gene: BBS9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS7 Ellen McDonagh gene: BBS7 was added
gene: BBS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS5 Ellen McDonagh gene: BBS5 was added
gene: BBS5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS4 Ellen McDonagh gene: BBS4 was added
gene: BBS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS2 Ellen McDonagh gene: BBS2 was added
gene: BBS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS12 Ellen McDonagh gene: BBS12 was added
gene: BBS12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS10 Ellen McDonagh gene: BBS10 was added
gene: BBS10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BBS1 Ellen McDonagh gene: BBS1 was added
gene: BBS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BBS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BAAT Ellen McDonagh gene: BAAT was added
gene: BAAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: BAAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B9D2 Ellen McDonagh gene: B9D2 was added
gene: B9D2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B9D2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B4GAT1 Ellen McDonagh gene: B4GAT1 was added
gene: B4GAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GAT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B4GALT7 Ellen McDonagh gene: B4GALT7 was added
gene: B4GALT7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GALT7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B4GALT1 Ellen McDonagh gene: B4GALT1 was added
gene: B4GALT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B4GALT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GLCT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B3GAT3 Ellen McDonagh gene: B3GAT3 was added
gene: B3GAT3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B3GALT6 Ellen McDonagh gene: B3GALT6 was added
gene: B3GALT6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GALT6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: B3GALNT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AUH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATPAF2 Ellen McDonagh gene: ATPAF2 was added
gene: ATPAF2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATPAF2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP8B1 Ellen McDonagh gene: ATP8B1 was added
gene: ATP8B1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP8B1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP8A2 Ellen McDonagh gene: ATP8A2 was added
gene: ATP8A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP7A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP6V0A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP6AP1 Ellen McDonagh gene: ATP6AP1 was added
gene: ATP6AP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATP6AP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATIC Ellen McDonagh gene: ATIC was added
gene: ATIC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATIC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATAD3A Ellen McDonagh gene: ATAD3A was added
gene: ATAD3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ATAD3A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ASS1 Ellen McDonagh gene: ASS1 was added
gene: ASS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ASPA Ellen McDonagh gene: ASPA was added
gene: ASPA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASPA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ASL Ellen McDonagh gene: ASL was added
gene: ASL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ASAH1 Ellen McDonagh gene: ASAH1 was added
gene: ASAH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ASAH1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARSE Ellen McDonagh gene: ARSE was added
gene: ARSE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARSE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARSB Ellen McDonagh gene: ARSB was added
gene: ARSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARSB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARL6 Ellen McDonagh gene: ARL6 was added
gene: ARL6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARL6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARL13B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARG1 Ellen McDonagh gene: ARG1 was added
gene: ARG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ARG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APRT Ellen McDonagh gene: APRT was added
gene: APRT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APRT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOPT1 Ellen McDonagh gene: APOPT1 was added
gene: APOPT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOPT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOE Ellen McDonagh gene: APOE was added
gene: APOE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOC2 Ellen McDonagh gene: APOC2 was added
gene: APOC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOB Ellen McDonagh gene: APOB was added
gene: APOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOA5 Ellen McDonagh gene: APOA5 was added
gene: APOA5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOA5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APOA1 Ellen McDonagh gene: APOA1 was added
gene: APOA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: APOA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ANKS6 Ellen McDonagh gene: ANKS6 was added
gene: ANKS6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ANKS6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AMT Ellen McDonagh gene: AMT was added
gene: AMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AMPD2 Ellen McDonagh gene: AMPD2 was added
gene: AMPD2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMPD2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AMN Ellen McDonagh gene: AMN was added
gene: AMN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AMACR Ellen McDonagh gene: AMACR was added
gene: AMACR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AMACR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALPL Ellen McDonagh gene: ALPL was added
gene: ALPL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALPL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALMS1 Ellen McDonagh gene: ALMS1 was added
gene: ALMS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALMS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG9 Ellen McDonagh gene: ALG9 was added
gene: ALG9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG8 Ellen McDonagh gene: ALG8 was added
gene: ALG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG6 Ellen McDonagh gene: ALG6 was added
gene: ALG6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG3 Ellen McDonagh gene: ALG3 was added
gene: ALG3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG13 Ellen McDonagh gene: ALG13 was added
gene: ALG13 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG13 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG12 Ellen McDonagh gene: ALG12 was added
gene: ALG12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG11 Ellen McDonagh gene: ALG11 was added
gene: ALG11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG11 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALG1 Ellen McDonagh gene: ALG1 was added
gene: ALG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDOB Ellen McDonagh gene: ALDOB was added
gene: ALDOB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDOB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDOA Ellen McDonagh gene: ALDOA was added
gene: ALDOA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDOA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH7A1 Ellen McDonagh gene: ALDH7A1 was added
gene: ALDH7A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH7A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH6A1 Ellen McDonagh gene: ALDH6A1 was added
gene: ALDH6A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH6A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH5A1 Ellen McDonagh gene: ALDH5A1 was added
gene: ALDH5A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH5A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH4A1 Ellen McDonagh gene: ALDH4A1 was added
gene: ALDH4A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH4A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH3A2 Ellen McDonagh gene: ALDH3A2 was added
gene: ALDH3A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALDH3A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALAS2 Ellen McDonagh gene: ALAS2 was added
gene: ALAS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALAS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALAD Ellen McDonagh gene: ALAD was added
gene: ALAD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ALAD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AKR1D1 Ellen McDonagh gene: AKR1D1 was added
gene: AKR1D1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AKR1D1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AIFM1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AHI1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AGXT Ellen McDonagh gene: AGXT was added
gene: AGXT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGXT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AGPS Ellen McDonagh gene: AGPS was added
gene: AGPS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGPS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AGL Ellen McDonagh gene: AGL was added
gene: AGL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AGK Ellen McDonagh gene: AGK was added
gene: AGK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AGA Ellen McDonagh gene: AGA was added
gene: AGA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AGA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ADSL Ellen McDonagh gene: ADSL was added
gene: ADSL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADSL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ADGRG1 Ellen McDonagh gene: ADGRG1 was added
gene: ADGRG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADGRG1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ADA Ellen McDonagh gene: ADA was added
gene: ADA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ADA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACY1 Ellen McDonagh gene: ACY1 was added
gene: ACY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACY1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACO2 Ellen McDonagh gene: ACO2 was added
gene: ACO2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACO2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACAT1 Ellen McDonagh gene: ACAT1 was added
gene: ACAT1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAT1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACADVL Ellen McDonagh gene: ACADVL was added
gene: ACADVL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADVL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACADSB Ellen McDonagh gene: ACADSB was added
gene: ACADSB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADSB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACADS Ellen McDonagh gene: ACADS was added
gene: ACADS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACADM Ellen McDonagh gene: ACADM was added
gene: ACADM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACADM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACAD9 Ellen McDonagh gene: ACAD9 was added
gene: ACAD9 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAD9 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACAD8 Ellen McDonagh gene: ACAD8 was added
gene: ACAD8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ACAD8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABHD5 Ellen McDonagh gene: ABHD5 was added
gene: ABHD5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABHD5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABHD12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCG8 Ellen McDonagh gene: ABCG8 was added
gene: ABCG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCG8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCG5 Ellen McDonagh gene: ABCG5 was added
gene: ABCG5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCG5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCD4 Ellen McDonagh gene: ABCD4 was added
gene: ABCD4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCD4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCD1 Ellen McDonagh gene: ABCD1 was added
gene: ABCD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCB4 Ellen McDonagh gene: ABCB4 was added
gene: ABCB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCB4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCB11 Ellen McDonagh gene: ABCB11 was added
gene: ABCB11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCB11 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCA1 Ellen McDonagh gene: ABCA1 was added
gene: ABCA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: ABCA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AARS2 Ellen McDonagh gene: AARS2 was added
gene: AARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: AARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WWOX Ellen McDonagh gene: WWOX was added
gene: WWOX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: WWOX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: WFS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TTBK2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TPP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TMEM240 Ellen McDonagh gene: TMEM240 was added
gene: TMEM240 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TMEM240 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TGM6 Ellen McDonagh gene: TGM6 was added
gene: TGM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: TGM6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 STUB1 Ellen McDonagh gene: STUB1 was added
gene: STUB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: STUB1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SPG7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SNX14 Ellen McDonagh gene: SNX14 was added
gene: SNX14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SNX14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SLC6A5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SLC1A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SIL1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SCN1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: SACS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PRKCG was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PPP2R2B Ellen McDonagh gene: PPP2R2B was added
gene: PPP2R2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PPP2R2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: PDYN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NOP56 Ellen McDonagh gene: NOP56 was added
gene: NOP56 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: NOP56 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCND3 Ellen McDonagh gene: KCND3 was added
gene: KCND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: KCND3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: KCNC3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ITPR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GRM1 Ellen McDonagh gene: GRM1 was added
gene: GRM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: GRM1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GRID2 Ellen McDonagh gene: GRID2 was added
gene: GRID2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: GRID2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FGF14 Ellen McDonagh gene: FGF14 was added
gene: FGF14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: FGF14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ELOVL4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNAJC5 Ellen McDonagh gene: DNAJC5 was added
gene: DNAJC5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: DNAJC5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: DMPK was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CYP27A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CWF19L1 Ellen McDonagh gene: CWF19L1 was added
gene: CWF19L1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CWF19L1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CTSD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CLN8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CIZ1 Ellen McDonagh gene: CIZ1 was added
gene: CIZ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CIZ1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CA8 Ellen McDonagh gene: CA8 was added
gene: CA8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: CA8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATXN7 Ellen McDonagh gene: ATXN7 was added
gene: ATXN7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATXN10 Ellen McDonagh gene: ATXN10 was added
gene: ATXN10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATXN1 Ellen McDonagh gene: ATXN1 was added
gene: ATXN1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATXN1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATCAY Ellen McDonagh gene: ATCAY was added
gene: ATCAY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ATCAY was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ANO10 Ellen McDonagh gene: ANO10 was added
gene: ANO10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ANO10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACSF3 Ellen McDonagh gene: ACSF3 was added
gene: ACSF3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ACSF3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABCB7 Ellen McDonagh gene: ABCB7 was added
gene: ABCB7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: ABCB7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AASS Ellen McDonagh gene: AASS was added
gene: AASS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: AASS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AAAS Ellen McDonagh gene: AAAS was added
gene: AAAS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH
Mode of inheritance for gene: AAAS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ZSWIM6 Ellen McDonagh gene: ZSWIM6 was added
gene: ZSWIM6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 YY1 Ellen McDonagh gene: YY1 was added
gene: YY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: YY1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: WDR73 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: WDR45 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VPS13D Ellen McDonagh gene: VPS13D was added
gene: VPS13D was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VPS13D was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VPS13A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VAMP2 Ellen McDonagh gene: VAMP2 was added
gene: VAMP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAMP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VAMP1 Ellen McDonagh gene: VAMP1 was added
gene: VAMP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 VAC14 Ellen McDonagh gene: VAC14 was added
gene: VAC14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: VAC14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TREX1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TOR1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: THAP1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TH Ellen McDonagh gene: TH was added
gene: TH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: TAF1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SYNJ1 Ellen McDonagh gene: SYNJ1 was added
gene: SYNJ1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SURF1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SPR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC6A8 Ellen McDonagh gene: SLC6A8 was added
gene: SLC6A8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SGCE was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SETX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SCN8A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASET2 Ellen McDonagh gene: RNASET2 was added
gene: RNASET2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: RAB39B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: QDPR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PTS was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRRT2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRNP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRKRA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PRKN Ellen McDonagh gene: PRKN was added
gene: PRKN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PRKN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: POLR3A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PNKP was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PNKD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PINK1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PET100 Ellen McDonagh gene: PET100 was added
gene: PET100 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PET100 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDHX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDGFB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDE2A Ellen McDonagh gene: PDE2A was added
gene: PDE2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDE2A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PDE10A Ellen McDonagh gene: PDE10A was added
gene: PDE10A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PDE10A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PCCB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PCCA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: PANK2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: OPA3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: OCLN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NPC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NPC1 Ellen McDonagh gene: NPC1 was added
gene: NPC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NPC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NGLY1 Ellen McDonagh gene: NGLY1 was added
gene: NGLY1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFS1 Ellen McDonagh gene: NDUFS1 was added
gene: NDUFS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFAF5 Ellen McDonagh gene: NDUFAF5 was added
gene: NDUFAF5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TK Ellen McDonagh gene: MT-TK was added
gene: MT-TK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-TC Ellen McDonagh gene: MT-TC was added
gene: MT-TC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND5 Ellen McDonagh gene: MT-ND5 was added
gene: MT-ND5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND4 Ellen McDonagh gene: MT-ND4 was added
gene: MT-ND4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND3 Ellen McDonagh gene: MT-ND3 was added
gene: MT-ND3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MTFMT Ellen McDonagh gene: MTFMT was added
gene: MTFMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MTFMT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Dystonia, chorea or related movement disorder, childhood onset v0.0 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MRE11 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MECR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: MARS2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 LRPPRC Ellen McDonagh gene: LRPPRC was added
gene: LRPPRC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KMT2B Ellen McDonagh gene: KMT2B was added
gene: KMT2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KMT2B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KIF1C Ellen McDonagh gene: KIF1C was added
gene: KIF1C was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KIF1C was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCTD17 Ellen McDonagh gene: KCTD17 was added
gene: KCTD17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCTD17 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNMA1 Ellen McDonagh gene: KCNMA1 was added
gene: KCNMA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNMA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: IFIH1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HSPD1 Ellen McDonagh gene: HSPD1 was added
gene: HSPD1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HPCA Ellen McDonagh gene: HPCA was added
gene: HPCA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HPCA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HIBCH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HEXA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 HCFC1 Ellen McDonagh gene: HCFC1 was added
gene: HCFC1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GTPBP2 Ellen McDonagh gene: GTPBP2 was added
gene: GTPBP2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GTPBP2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNAO1 Ellen McDonagh gene: GNAO1 was added
gene: GNAO1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GNAO1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GNAL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GM2A Ellen McDonagh gene: GM2A was added
gene: GM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GM2A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GLRA1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GLB1 Ellen McDonagh gene: GLB1 was added
gene: GLB1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GLB1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GJC2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GCH1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GCDH was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: GBA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FXN was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FTL was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FBXO7 Ellen McDonagh gene: FBXO7 was added
gene: FBXO7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: FA2H was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ECHS1 Ellen McDonagh gene: ECHS1 was added
gene: ECHS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DNAJC12 Ellen McDonagh gene: DNAJC12 was added
gene: DNAJC12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DLD Ellen McDonagh gene: DLD was added
gene: DLD was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DLD was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DLAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DDC was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CSTB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COX15 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COX10 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COL6A3 Ellen McDonagh gene: COL6A3 was added
gene: COL6A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: COASY was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLPB Ellen McDonagh gene: CLPB was added
gene: CLPB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLPB was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLN5 Ellen McDonagh gene: CLN5 was added
gene: CLN5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLN5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CLN3 Ellen McDonagh gene: CLN3 was added
gene: CLN3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CLN3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNB4 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CACNA1G Ellen McDonagh gene: CACNA1G was added
gene: CACNA1G was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNA1G was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: CACNA1A was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: C9orf72 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: BCS1L was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: BCAP31 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP7B was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ATM was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ARSA was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: APTX was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ANO3 Ellen McDonagh gene: ANO3 was added
gene: ANO3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ANO3 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ALDH18A1 Ellen McDonagh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ADCY5 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ADAR was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ACOX1 Ellen McDonagh gene: ACOX1 was added
gene: ACOX1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 ABAT Ellen McDonagh gene: ABAT was added
gene: ABAT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: ABAT was set to
Dystonia, chorea or related movement disorder, childhood onset v0.0 Ellen McDonagh Added panel Childhood onset dystonia or chorea or related movement disorder
Hypotonic infant v3.1266 Ellen McDonagh Panel name changed from Hypotonic infant with a likely central cause to Hypotonic infant
List of related panels changed from Floppy infant with a likely central cause; Hypotonic infant; R69 to Floppy infant with a likely central cause; Hypotonic infant with a likely central cause; R69
Fetal anomalies v0.371 ADNP Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects.
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents

; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL.
The gene has changed ratings as the panel to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty Classified gene: ABCA1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.6 ABCA1 Louise Daugherty Gene: abca1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.5 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Amber gene: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL
The gene has changed ratings as the panel that was going to be used for R78 was going to be broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy v1.350 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
R78 was going to be broadened to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. Subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for this panel to be restricted to genes that are associated with isolated neuropathy.; to: Comment on list classification: Changed from Red to Green: Feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features/ Peripheral neuropathy with low HDL - rated Green.
The gene has changed ratings as this panel was going to be used for R78, which was going to be broad panel, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/
The Test Group agreed that this Green gene was recommended for WGS panel based on broad phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP.
Hereditary neuropathy or pain disorder v0.5 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.234 ADSSL1 Louise Daugherty Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5 to Myopathy, distal, 5, 617030
Congenital myopathy v1.233 DOK7 Louise Daugherty Classified gene: DOK7 as Green List (high evidence)
Congenital myopathy v1.233 DOK7 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Red to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81 -some patients have a muscle biopsy and some minicores
Congenital myopathy v1.233 DOK7 Louise Daugherty Gene: dok7 has been classified as Green List (High Evidence).
Congenital myopathy v1.232 DOK7 Louise Daugherty edited their review of gene: DOK7: Changed rating: GREEN
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Classified gene: ADSSL1 as Green List (high evidence)
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Added comment: Comment on list classification: New Green gene suggested by Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) for R81
Congenital myopathy v1.232 ADSSL1 Louise Daugherty Gene: adssl1 has been classified as Green List (High Evidence).
Congenital myopathy v1.231 ADSSL1 Louise Daugherty Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Classified gene: PYROXD1 as Green List (high evidence)
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.230 PYROXD1 Louise Daugherty Gene: pyroxd1 has been classified as Green List (High Evidence).
Congenital myopathy v1.229 PYROXD1 Louise Daugherty Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization
Congenital myopathy v1.228 MYF5 Louise Daugherty Classified gene: MYF5 as Amber List (moderate evidence)
Congenital myopathy v1.228 MYF5 Louise Daugherty Added comment: Comment on list classification: New Amber gene suggested by Anna Sarkozy (Great Ormond Street Hospital)
Congenital myopathy v1.228 MYF5 Louise Daugherty Gene: myf5 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v1.227 MYF5 Louise Daugherty Publications for gene: MYF5 were set to PMID: 29887215
Congenital myopathy v1.226 FXR1 Louise Daugherty Classified gene: FXR1 as Green List (high evidence)
Congenital myopathy v1.226 FXR1 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.226 FXR1 Louise Daugherty Gene: fxr1 has been classified as Green List (High Evidence).
Congenital myopathy v1.225 RYR3 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81; to: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Classified gene: RYR3 as Green List (high evidence)
Congenital myopathy v1.225 RYR3 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81
Congenital myopathy v1.225 RYR3 Louise Daugherty Gene: ryr3 has been classified as Green List (High Evidence).
Congenital myopathy v1.224 CCDC78 Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81; to: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Classified gene: CCDC78 as Green List (high evidence)
Congenital myopathy v1.224 CCDC78 Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. There is only a single family reported, however Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend Green rating for R81
Congenital myopathy v1.224 CCDC78 Louise Daugherty Gene: ccdc78 has been classified as Green List (High Evidence).
Mosaic skin disorders - Deep sequencing v0.19 PMVK Catherine Snow Classified gene: PMVK as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v0.19 PMVK Catherine Snow Gene: pmvk has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v0.18 MVD Catherine Snow Classified gene: MVD as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v0.18 MVD Catherine Snow Gene: mvd has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v0.17 FGFR2 Catherine Snow Classified gene: FGFR2 as Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v0.17 FGFR2 Catherine Snow Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - Deep sequencing v0.16 RHOA Tom Cullup reviewed gene: RHOA: 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: 31570889; Phenotypes: Blaschko-linear hypopigmentation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 MVD Tom Cullup reviewed gene: MVD: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 PMVK Tom Cullup reviewed gene: PMVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30942823; Phenotypes: Linear porokeratosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 FGFR2 Tom Cullup reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 9728990; Phenotypes: Epdermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 CARD14 Tom Cullup reviewed gene: CARD14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ILVEN (submitted 2 cases); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 TYRP1 Tom Cullup reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 TYR Tom Cullup reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculocutaneous albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 TERT Tom Cullup reviewed gene: TERT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 SPRED1 Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27423141; Phenotypes: Legius syndrome (611431); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 SMO Tom Cullup reviewed gene: SMO: 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: 27236920; Phenotypes: Curry-Jones syndrome (601707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 RASA1 Tom Cullup reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24038909, 30635911; Phenotypes: Capillary malformation-arteriovenous malformation syndrome (608354); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 PTPN11 Tom Cullup reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: Mosaic case series shortly to be published by Kinsler group; Phenotypes: Noonan syndrome with lentigines (LEOPARD)(151100), Speckled lentiginous naevus syndrome (deletion) and PPV spilorosea (missense activating like Leopard); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 PTEN Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749983, 12471211; Phenotypes: Cowden syndrome (158350), Epidermal naevi, Melanoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 PIK3CA Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499344, 22729224, 29446767, 23100325; Phenotypes: PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500), Vascular malformations, Epidermal naevus (162900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 NRAS Tom Cullup reviewed gene: NRAS: 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: 22499344, 24006476, 10878667; Phenotypes: Melanocytic naevi (162900), Congenital melanocytic naevus syndrome, Noonan syndrome (613224); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 NOD2 Tom Cullup reviewed gene: NOD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Blau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 NF1 Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668375, 14605872; Phenotypes: Neurofibromatosis type I (162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 NDUFB11 Tom Cullup reviewed gene: NDUFB11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 MVK Tom Cullup reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: 24781643; Phenotypes: Actinic porokeratosis, porokeratosis of Mibelli (175900); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 MTOR Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27159400; Phenotypes: Hypomelanosis of Ito/Blaschko-linear hypopigmentation (Focal cortical dysplasia type II, 607341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 MAP3K3 Tom Cullup reviewed gene: MAP3K3: 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: 25728774; Phenotypes: Verrucous haemangiomas; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 MAP2K1 Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29461977; Phenotypes: Arteriovenous malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 KRT10 Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 29135017, 25495838; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Pachyonychia congenita, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 KRT1 Tom Cullup reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28532675, 17255957; Phenotypes: Epidermolytic hyperkeratosis, Ichthyosis histrix, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 KRAS Tom Cullup 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: 22499344, 22683711; Phenotypes: Epidermal naevi, Schimmelpenning syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 KITLG Tom Cullup reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive hyper- and hypopigmentation, Blaschko-linear hypopigmentation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 JAK2 Tom Cullup reviewed gene: JAK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myelofibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 IDH2 Tom Cullup reviewed gene: IDH2: 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: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 IDH1 Tom Cullup reviewed gene: IDH1: 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: 22057234; Phenotypes: Maffucci syndrome, Ollier disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 HRAS Tom Cullup reviewed gene: HRAS: 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: 22499344, 22683711, 24006476; Phenotypes: Epidermal naevi, Schimmelpenning syndrome, Phakomatosis pigmentokeratotica, Woolly hair, Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 HCCS Tom Cullup reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 GNAS Tom Cullup reviewed gene: GNAS: 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: 12970318; Phenotypes: McCune-Albright syndrome (174800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - Deep sequencing v0.16 GNAQ Tom Cullup reviewed gene: GNAQ: 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: 26778290; Phenotypes: Sturge Weber syndrome, Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 GNA14 Tom Cullup reviewed gene: GNA14: 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: 27476652; Phenotypes: Kaposiform endothelioma, Tufted angioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 GNA11 Tom Cullup reviewed gene: GNA11: 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: 26778290; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 FGFR3 Tom Cullup reviewed gene: FGFR3: 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: 16841094 , 22499344; Phenotypes: Epidermal naevi (162900), Syringocystadenoma papilliferum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 FGFR1 Tom Cullup reviewed gene: FGFR1: 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: 26942290; Phenotypes: Encephalocraniocutaneous Lipomatosis (613001); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 COX7B Tom Cullup reviewed gene: COX7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mosaic skin disorders - Deep sequencing v0.16 AKT3 Tom Cullup reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 AKT2 Tom Cullup reviewed gene: AKT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Overgrowth syndrome (not always mosaic in this case); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 AKT1 Tom Cullup reviewed gene: AKT1: 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: 21793738; Phenotypes: Proteus syndrome (176920); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.16 ACTB Tom Cullup reviewed gene: ACTB: 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: 28347698; Phenotypes: Becker naevus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - Deep sequencing v0.15 TYRP1 Catherine Snow Source Expert Review Removed was added to TYRP1.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 TYR Catherine Snow Source Expert Review Removed was added to TYR.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 TERT Catherine Snow Source Expert Review Removed was added to TERT.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 SPRED1 Catherine Snow Publications for gene SPRED1 were changed from to 27423141
Mosaic skin disorders - Deep sequencing v0.15 SMO Catherine Snow Publications for gene SMO were changed from to 27236920
Mosaic skin disorders - Deep sequencing v0.15 RASA1 Catherine Snow Publications for gene RASA1 were changed from to 24038909; 30635911
Mosaic skin disorders - Deep sequencing v0.15 PTPN11 Catherine Snow Source Expert Review Amber was added to PTPN11.
Publications for gene PTPN11 were changed from to Mosaic case series shortly to be published by Kinsler group
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mosaic skin disorders - Deep sequencing v0.15 PTEN Catherine Snow Publications for gene PTEN were changed from to 10749983; 12471211
Mosaic skin disorders - Deep sequencing v0.15 PIK3CA Catherine Snow Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Mosaic skin disorders - Deep sequencing v0.15 NRAS Catherine Snow Publications for gene NRAS were changed from to 22499344; 10878667; 24006476
Mosaic skin disorders - Deep sequencing v0.15 NOD2 Catherine Snow Source Expert Review Removed was added to NOD2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 NF1 Catherine Snow Publications for gene NF1 were changed from to 14605872; 17668375
Mosaic skin disorders - Deep sequencing v0.15 NDUFB11 Catherine Snow Source Expert Review Removed was added to NDUFB11.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 MVK Catherine Snow Source Expert Review Removed was added to MVK.
Publications for gene MVK were changed from to 24781643
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 MTOR Catherine Snow Publications for gene MTOR were changed from to 27159400
Mosaic skin disorders - Deep sequencing v0.15 MAP3K3 Catherine Snow Publications for gene MAP3K3 were changed from to 25728774
Mosaic skin disorders - Deep sequencing v0.15 MAP2K1 Catherine Snow Publications for gene MAP2K1 were changed from to 29461977
Mosaic skin disorders - Deep sequencing v0.15 KRT10 Catherine Snow Publications for gene KRT10 were changed from to 29135017; 25495838
Mosaic skin disorders - Deep sequencing v0.15 KRT1 Catherine Snow Publications for gene KRT1 were changed from to 28532675; 17255957
Mosaic skin disorders - Deep sequencing v0.15 KRAS Catherine Snow Publications for gene KRAS were changed from to 22499344; 22683711
Mosaic skin disorders - Deep sequencing v0.15 KITLG Catherine Snow Source Expert Review Removed was added to KITLG.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 JAK2 Catherine Snow Source Expert Review Removed was added to JAK2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 IDH2 Catherine Snow Publications for gene IDH2 were changed from to 22057234
Mosaic skin disorders - Deep sequencing v0.15 IDH1 Catherine Snow Publications for gene IDH1 were changed from to 22057234
Mosaic skin disorders - Deep sequencing v0.15 HRAS Catherine Snow Publications for gene HRAS were changed from to 22499344; 22683711; 24006476
Mosaic skin disorders - Deep sequencing v0.15 HCCS Catherine Snow Source Expert Review Removed was added to HCCS.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 GNAS Catherine Snow Publications for gene GNAS were changed from to 12970318
Mosaic skin disorders - Deep sequencing v0.15 GNAQ Catherine Snow Publications for gene GNAQ were changed from to 26778290
Mosaic skin disorders - Deep sequencing v0.15 GNA14 Catherine Snow Publications for gene GNA14 were changed from to 27476652
Mosaic skin disorders - Deep sequencing v0.15 GNA11 Catherine Snow Publications for gene GNA11 were changed from to 26778290
Mosaic skin disorders - Deep sequencing v0.15 FGFR3 Catherine Snow Publications for gene FGFR3 were changed from to 22499344; 16841094
Mosaic skin disorders - Deep sequencing v0.15 FGFR1 Catherine Snow Publications for gene FGFR1 were changed from to 26942290
Mosaic skin disorders - Deep sequencing v0.15 COX7B Catherine Snow Source Expert Review Removed was added to COX7B.
Mode of inheritance for gene COX7B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 AKT3 Catherine Snow Source Expert Review Removed was added to AKT3.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 AKT2 Catherine Snow Source Expert Review Removed was added to AKT2.
Rating Changed from Green List (high evidence) to No List (delete)
Mosaic skin disorders - Deep sequencing v0.15 AKT1 Catherine Snow Publications for gene AKT1 were changed from to 21793738
Mosaic skin disorders - Deep sequencing v0.15 ACTB Catherine Snow Publications for gene ACTB were changed from to 28347698
Mosaic skin disorders - Deep sequencing v0.14 RHOA Catherine Snow gene: RHOA was added
gene: RHOA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOA were set to 31570889
Phenotypes for gene: RHOA were set to Blaschko-linear hypopigmentation syndrome
Mosaic skin disorders - Deep sequencing v0.14 MVD Catherine Snow gene: MVD was added
gene: MVD was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: MVD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MVD were set to 30942823
Phenotypes for gene: MVD were set to Linear porokeratosis
Mosaic skin disorders - Deep sequencing v0.14 PMVK Catherine Snow gene: PMVK was added
gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PMVK were set to 30942823
Phenotypes for gene: PMVK were set to Linear porokeratosis
Mosaic skin disorders - Deep sequencing v0.14 FGFR2 Catherine Snow gene: FGFR2 was added
gene: FGFR2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR2 were set to 9728990
Phenotypes for gene: FGFR2 were set to Epdermal naevi
Mosaic skin disorders - Deep sequencing v0.14 CARD14 Catherine Snow gene: CARD14 was added
gene: CARD14 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to ILVEN (submitted 2 cases)
Congenital myopathy v1.223 CCDC78 Anna Sarkozy edited their review of gene: CCDC78: Changed rating: GREEN
Congenital myopathy v1.223 CCDC78 Anna Sarkozy changed review comment from: there is so far a single family reported in literature. we only found class 3 variants in the HSS diagnostic series so far.; to: this can be upgraded to green
Congenital myopathy v1.223 RYR3 Anna Sarkozy reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.223 FXR1 Anna Sarkozy reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30770808; Phenotypes: congenital multi-minicore myopathy.; Mode of inheritance: None
Congenital myopathy v1.223 MYF5 Anna Sarkozy gene: MYF5 was added
gene: MYF5 was added to Congenital myopathy. Sources: Expert list,Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to PMID: 29887215
Phenotypes for gene: MYF5 were set to OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Mode of pathogenicity for gene: MYF5 was set to Other
Review for gene: MYF5 was set to AMBER
Added comment: Sources: Expert list, Literature
Hereditary neuropathy v1.349 ABCA1 Louise Daugherty Deleted their comment
Congenital myopathy v1.223 PYROXD1 Anna Sarkozy reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27745833; Phenotypes: early-onset myopathy with internalized nuclei and myofibrillar disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.223 ADSSL1 Anna Sarkozy gene: ADSSL1 was added
gene: ADSSL1 was added to Congenital myopathy. Sources: Literature,Expert Review
Mode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSSL1 were set to PMID: 28268051; 26506222
Phenotypes for gene: ADSSL1 were set to Myopathy, distal, 5
Penetrance for gene: ADSSL1 were set to unknown
Mode of pathogenicity for gene: ADSSL1 was set to Other
Review for gene: ADSSL1 was set to GREEN
Added comment: Patient muscle samples showed decreased expression of the mutant missense protein and no expression of the truncated protein, which was attributed to increased degradation of the mutant proteins. In vitro studies in cultured mouse muscle cells and zebrafish indicated that the mutations resulted in a loss of function
Sources: Literature, Expert Review
Congenital myopathy v1.223 DOK7 Anna Sarkozy edited their review of gene: DOK7: Added comment: clinical and pathological overlap with CM, minicores on pathology; Changed rating: GREEN
Hereditary neuropathy or pain disorder v0.3 Ellen McDonagh Panel status changed from internal to public
Hereditary neuropathy v1.348 Ellen McDonagh List of related panels changed from Charcot-Marie-Tooth disease; R78 to Charcot-Marie-Tooth disease
Panel types changed to Rare Disease 100K
Hereditary neuropathy or pain disorder v0.2 Ellen McDonagh List of related panels changed from to R78
Panel types changed to GMS Rare Disease Virtual
Hereditary neuropathy or pain disorder v0.1 ZFYVE27 Ellen McDonagh gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ZFYVE27 was set to
Phenotypes for gene: ZFYVE27 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Hereditary Neuropathies; Onset second decade, spastic paraplegia, intellectual disability and cognitive decline, thin corpus callosum, mild cerebellar eye signs, axonal sensory-motor neuropathy, parkinsonism and dystonia, pseudobulbar involvement and pigmentry maculopathy; Spastic paraplegia 15, autosomal recessive, 270700
Hereditary neuropathy or pain disorder v0.1 XRCC1 Ellen McDonagh gene: XRCC1 was added
gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 29472272; 28002403
Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633
Hereditary neuropathy or pain disorder v0.1 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 2168777
Phenotypes for gene: XPA were set to Photosensitivity and increased risk of cutaneous malignancy, global developmental delay, deafness, sensory-motor axonal peripheral neuropathy; Xeroderma pigmentosum, group A, 278700
Hereditary neuropathy or pain disorder v0.1 XK Ellen McDonagh gene: XK was added
gene: XK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy; McLeod syndrome with or without chronic granulomatous disease, 300842
Hereditary neuropathy or pain disorder v0.1 WASHC5 Ellen McDonagh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: WASHC5 was set to
Publications for gene: WASHC5 were set to 27164712
Phenotypes for gene: WASHC5 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150; Choreoacanthocytosis. Onset 3rd to 5th decade, red cell acanthocytosis and progressive neurodegeneration, seizures, dysarthria, chorea, orofacial dyskinesia, psychiatric disturbance, axonal sensory-motor neuropathy, raised CK
Hereditary neuropathy or pain disorder v0.1 VCL Ellen McDonagh gene: VCL was added
gene: VCL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: VCL was set to
Phenotypes for gene: VCL were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Hereditary Neuropathies; Deafness, ovarian dysgenesis, learning difficulties, delayed motor development, cerebellar hypoplasia, peripheral axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Hereditary Neuropathies; Early onset ataxia and sensory axonal neuropathy similar to Friedreich ataxia, head titubation, normal fat absorption unlike abetalipoproteinaemia, rarely retinitis pigmentosa
Hereditary neuropathy or pain disorder v0.1 TTN Ellen McDonagh gene: TTN was added
gene: TTN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTN was set to
Phenotypes for gene: TTN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TTBK2 was set to
Phenotypes for gene: TTBK2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: TRPA1 was set to
Hereditary neuropathy or pain disorder v0.1 TRIM2 Ellen McDonagh gene: TRIM2 was added
gene: TRIM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM2 were set to 25893792; 18687884; 23562820
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490
Hereditary neuropathy or pain disorder v0.1 TPM1 Ellen McDonagh gene: TPM1 was added
gene: TPM1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TPM1 was set to
Phenotypes for gene: TPM1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNT2 Ellen McDonagh gene: TNNT2 was added
gene: TNNT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNT2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNI3 Ellen McDonagh gene: TNNI3 was added
gene: TNNI3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNI3 was set to
Phenotypes for gene: TNNI3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TNNC1 Ellen McDonagh gene: TNNC1 was added
gene: TNNC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TNNC1 was set to
Phenotypes for gene: TNNC1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TMEM43 Ellen McDonagh gene: TMEM43 was added
gene: TMEM43 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TMEM43 was set to
Phenotypes for gene: TMEM43 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TDP1 Ellen McDonagh gene: TDP1 was added
gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 12244316
Phenotypes for gene: TDP1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 TCAP Ellen McDonagh gene: TCAP was added
gene: TCAP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TCAP was set to
Phenotypes for gene: TCAP were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 TAZ Ellen McDonagh gene: TAZ was added
gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: TAZ was set to
Phenotypes for gene: TAZ were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary neuropathy or pain disorder v0.1 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to 17287286
Phenotypes for gene: SUCLA2 were set to Leigh like syndrome, deafness, progressive dystonia, mild methylmaolic acidaemia; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Hereditary neuropathy or pain disorder v0.1 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPTBN2 was set to
Publications for gene: SPTBN2 were set to 28333917
Phenotypes for gene: SPTBN2 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were set to Hereditary Neuropathies; Spastic paraplegia, optic atrophy, ataxia and sensory-motor axonal neuropathy in some patients
Hereditary neuropathy or pain disorder v0.1 SPG21 Ellen McDonagh gene: SPG21 was added
gene: SPG21 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPG21 was set to
Phenotypes for gene: SPG21 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SPART Ellen McDonagh gene: SPART was added
gene: SPART was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SPART was set to
Phenotypes for gene: SPART were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SOX10 Ellen McDonagh gene: SOX10 was added
gene: SOX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,South West GLH
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 21898658
Phenotypes for gene: SOX10 were set to Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease
Hereditary neuropathy or pain disorder v0.1 SOS1 Ellen McDonagh gene: SOS1 was added
gene: SOS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SOS1 was set to
Phenotypes for gene: SOS1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SLC5A7 Ellen McDonagh gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC5A7 were set to 23141292; 29782645
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
Hereditary neuropathy or pain disorder v0.1 SLC52A1 Ellen McDonagh gene: SLC52A1 was added
gene: SLC52A1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency; dHMN
Hereditary neuropathy or pain disorder v0.1 SLC25A46 Ellen McDonagh gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; Optic atrophy and progressive visual loss in the 1st decade, then spasticity, cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 19798730
Phenotypes for gene: SLC25A19 were set to Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Hereditary neuropathy or pain disorder v0.1 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SLC1A3 was set to
Phenotypes for gene: SLC1A3 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SIL1 was set to
Phenotypes for gene: SIL1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 SGCD Ellen McDonagh gene: SGCD was added
gene: SGCD was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SGCD was set to
Phenotypes for gene: SGCD were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SELENOI Ellen McDonagh gene: SELENOI was added
gene: SELENOI was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENOI were set to Infantile onset, global developmental delay, spasticity, periventricular white mater signal change on MRI, peripheral neuropathy with SNCV. Seizures and bifid uvula in some affected individuals
Hereditary neuropathy or pain disorder v0.1 SCYL1 Ellen McDonagh gene: SCYL1 was added
gene: SCYL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary neuropathy or pain disorder v0.1 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCP2 were set to 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724; Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
Hereditary neuropathy or pain disorder v0.1 SCN5A Ellen McDonagh gene: SCN5A was added
gene: SCN5A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: SCN5A was set to
Phenotypes for gene: SCN5A were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCN10A was set to
Hereditary neuropathy or pain disorder v0.1 SCARB2 Ellen McDonagh gene: SCARB2 was added
gene: SCARB2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 19597094; 21670406
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900; Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
Hereditary neuropathy or pain disorder v0.1 SBF1 Ellen McDonagh gene: SBF1 was added
gene: SBF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 28005197; 21210780; 24799518
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284
Hereditary neuropathy or pain disorder v0.1 RYR2 Ellen McDonagh gene: RYR2 was added
gene: RYR2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RYR2 was set to
Phenotypes for gene: RYR2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RIT1 Ellen McDonagh gene: RIT1 was added
gene: RIT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RIT1 was set to
Phenotypes for gene: RIT1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RBM20 was set to
Phenotypes for gene: RBM20 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 RAF1 Ellen McDonagh gene: RAF1 was added
gene: RAF1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: RAF1 was set to
Phenotypes for gene: RAF1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PTRH2 Ellen McDonagh gene: PTRH2 was added
gene: PTRH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25572476; 25558065
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263; Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary neuropathy or pain disorder v0.1 PTPN11 Ellen McDonagh gene: PTPN11 was added
gene: PTPN11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 25884655; 26952712; 26337637
Phenotypes for gene: PTPN11 were set to Cardiomyopathy; Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus
Hereditary neuropathy or pain disorder v0.1 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Cowden syndrome 1, 158350; multifocal demyelinating motor neuropathy, macrocephaly, autism spectrum disorder and skin hamartomas
Hereditary neuropathy or pain disorder v0.1 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCG were set to 26633542; 29603387
Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome
Hereditary neuropathy or pain disorder v0.1 PRKAG2 Ellen McDonagh gene: PRKAG2 was added
gene: PRKAG2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PRKAG2 was set to
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PPOX Ellen McDonagh gene: PPOX was added
gene: PPOX was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200; Skin photosensitivity. Acute episodes similar to AIP
Hereditary neuropathy or pain disorder v0.1 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 28459997
Phenotypes for gene: POLR3A were set to Bilateral hyperintensities on MRI from the superior cerebellar peduncle to the dentate nucleus / midbrain; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Adolescent onset progressive spastic ataxia, tremor, involvement of central sensory tracts, dental complications
Hereditary neuropathy or pain disorder v0.1 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 24355708
Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Hereditary neuropathy or pain disorder v0.1 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 30039206
Phenotypes for gene: PNKP were set to Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267
Hereditary neuropathy or pain disorder v0.1 PMP2 Ellen McDonagh gene: PMP2 was added
gene: PMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP2 were set to Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary neuropathy or pain disorder v0.1 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9140401
Phenotypes for gene: PMM2 were set to Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy; Congenital disorder of glycosylation, type Ia, 212065
Hereditary neuropathy or pain disorder v0.1 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 PLN Ellen McDonagh gene: PLN was added
gene: PLN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PLN was set to
Phenotypes for gene: PLN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PKP2 Ellen McDonagh gene: PKP2 was added
gene: PKP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PKP2 was set to
Phenotypes for gene: PKP2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PEX10 was set to
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870; Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described; Peroxisome biogenesis disorder 6B, 614871
Hereditary neuropathy or pain disorder v0.1 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDYN were set to 21035104
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23, 610245; Cerebellar ataxia, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 PDLIM3 Ellen McDonagh gene: PDLIM3 was added
gene: PDLIM3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: PDLIM3 was set to
Phenotypes for gene: PDLIM3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 PDK3 Ellen McDonagh gene: PDK3 was added
gene: PDK3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDK3 were set to 26801680; 23297365
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905
Hereditary neuropathy or pain disorder v0.1 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501
Hereditary neuropathy or pain disorder v0.1 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic neuropathy, PEO, deafness, myelopathy, sensory-motor axonal neuropathy; Optic atrophy plus syndrome, 125250
Hereditary neuropathy or pain disorder v0.1 NRAS Ellen McDonagh gene: NRAS was added
gene: NRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NRAS was set to
Phenotypes for gene: NRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NIPA1 Ellen McDonagh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 14508710; 15711826; 21419568; 22302102; 15643603
Phenotypes for gene: NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant
Hereditary neuropathy or pain disorder v0.1 NEXN Ellen McDonagh gene: NEXN was added
gene: NEXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEXN was set to
Phenotypes for gene: NEXN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NEFH Ellen McDonagh gene: NEFH was added
gene: NEFH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
Hereditary neuropathy or pain disorder v0.1 NEBL Ellen McDonagh gene: NEBL was added
gene: NEBL was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: NEBL was set to
Phenotypes for gene: NEBL were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAGLU were set to 25818867
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Hereditary neuropathy or pain disorder v0.1 NAGA Ellen McDonagh gene: NAGA was added
gene: NAGA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGA were set to 15136691
Phenotypes for gene: NAGA were set to Kanzaki disease, 609242; Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI
Hereditary neuropathy or pain disorder v0.1 MYPN Ellen McDonagh gene: MYPN was added
gene: MYPN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYPN was set to
Phenotypes for gene: MYPN were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYOZ2 Ellen McDonagh gene: MYOZ2 was added
gene: MYOZ2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYOZ2 was set to
Phenotypes for gene: MYOZ2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYL3 Ellen McDonagh gene: MYL3 was added
gene: MYL3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL3 was set to
Phenotypes for gene: MYL3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYL2 Ellen McDonagh gene: MYL2 was added
gene: MYL2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYL2 was set to
Phenotypes for gene: MYL2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH7 Ellen McDonagh gene: MYH7 was added
gene: MYH7 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH7 was set to
Phenotypes for gene: MYH7 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH6 Ellen McDonagh gene: MYH6 was added
gene: MYH6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYH6 was set to
Phenotypes for gene: MYH6 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MYH14 Ellen McDonagh gene: MYH14 was added
gene: MYH14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH14 were set to 30373780; 21480433; 27875632
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Hereditary neuropathy or pain disorder v0.1 MYBPC3 Ellen McDonagh gene: MYBPC3 was added
gene: MYBPC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MYBPC3 was set to
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS
Mode of inheritance for gene: MTTP was set to
Publications for gene: MTTP were set to 2991816
Phenotypes for gene: MTTP were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 MT-RNR1 Ellen McDonagh gene: MT-RNR1 was added
gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MRE11 was set to
Phenotypes for gene: MRE11 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 20610126
Phenotypes for gene: MMACHC were set to Onset infancy to adulthood; Methylmalonic aciduria and homocystinuria, cblC type, 277400; thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
Hereditary neuropathy or pain disorder v0.1 MED25 Ellen McDonagh gene: MED25 was added
gene: MED25 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 19290556
Phenotypes for gene: MED25 were set to Charcot Marie Tooth disease, type 2B2, 605589
Hereditary neuropathy or pain disorder v0.1 MCM3AP Ellen McDonagh gene: MCM3AP was added
gene: MCM3AP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary neuropathy or pain disorder v0.1 MARS Ellen McDonagh gene: MARS was added
gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MARS were set to 23729695; 29655802
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary neuropathy or pain disorder v0.1 MAP2K2 Ellen McDonagh gene: MAP2K2 was added
gene: MAP2K2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K2 was set to
Phenotypes for gene: MAP2K2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 MAP2K1 Ellen McDonagh gene: MAP2K1 was added
gene: MAP2K1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to
Phenotypes for gene: MAP2K1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 27669550
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500; Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy
Hereditary neuropathy or pain disorder v0.1 LDB3 Ellen McDonagh gene: LDB3 was added
gene: LDB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LDB3 was set to
Phenotypes for gene: LDB3 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LAS1L Ellen McDonagh gene: LAS1L was added
gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH
Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAS1L were set to 24647030
Hereditary neuropathy or pain disorder v0.1 LAMP2 Ellen McDonagh gene: LAMP2 was added
gene: LAMP2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMP2 was set to
Phenotypes for gene: LAMP2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 LAMA4 Ellen McDonagh gene: LAMA4 was added
gene: LAMA4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: LAMA4 was set to
Phenotypes for gene: LAMA4 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 L1CAM Ellen McDonagh gene: L1CAM was added
gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: L1CAM was set to
Phenotypes for gene: L1CAM were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KRAS Ellen McDonagh gene: KRAS was added
gene: KRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KRAS was set to
Phenotypes for gene: KRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 KLC2 Ellen McDonagh gene: KLC2 was added
gene: KLC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to SPOAN, Early onset spastic paraplegia, congenital optic atrophy, and axonal sensory-motor neuropathy; Spastic paraplegia, optic atrophy, and neuropathy, 609541
Hereditary neuropathy or pain disorder v0.1 KIF1B Ellen McDonagh gene: KIF1B was added
gene: KIF1B was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF1B were set to 11389829; 25802885
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210
Hereditary neuropathy or pain disorder v0.1 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNC3 was set to
Phenotypes for gene: KCNC3 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KCNA2 Ellen McDonagh gene: KCNA2 was added
gene: KCNA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA2 were set to 27543892
Phenotypes for gene: KCNA2 were set to Epileptic encephalopathy, early infantile, 32, 616366; Childhood onset spasticity, intellectual disability, ataxia, seizures, sensory and motor SNCV in one family
Hereditary neuropathy or pain disorder v0.1 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: KCNA1 was set to
Phenotypes for gene: KCNA1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 KARS Ellen McDonagh gene: KARS was added
gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KARS were set to 25476837; 23768514; 20920668
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641
Hereditary neuropathy or pain disorder v0.1 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JUP was set to
Phenotypes for gene: JUP were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 JPH2 Ellen McDonagh gene: JPH2 was added
gene: JPH2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: JPH2 was set to
Phenotypes for gene: JPH2 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: ITPR1 was set to
Phenotypes for gene: ITPR1 were set to Hereditary Neuropathies
Hereditary neuropathy or pain disorder v0.1 IARS2 Ellen McDonagh gene: IARS2 was added
gene: IARS2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Spondyloepiphyseal dysplasia, congenital cataracts, nystagmus, dysmorphic facies, sensory neuronal hearing loss, growth hormone deficiency, sensory axonal peripheral neuropathy; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Hereditary neuropathy or pain disorder v0.1 HSPB3 Ellen McDonagh gene: HSPB3 was added
gene: HSPB3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB3 were set to 27549087; 20142617
Phenotypes for gene: HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary neuropathy or pain disorder v0.1 HRAS Ellen McDonagh gene: HRAS was added
gene: HRAS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: HRAS was set to
Phenotypes for gene: HRAS were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 HOXD10 Ellen McDonagh gene: HOXD10 was added
gene: HOXD10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HOXD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXD10 were set to 15146389
Phenotypes for gene: HOXD10 were set to Charcot Marie Tooth disease, foot deformity of, 192950
Hereditary neuropathy or pain disorder v0.1 HMBS Ellen McDonagh gene: HMBS was added
gene: HMBS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to AIP, Abdominal pain, psychosis, depression, seizures, axonal predominantly motor neuropathy; Porphyria, acute intermittent, 176000
Hereditary neuropathy or pain disorder v0.1 HADHB Ellen McDonagh gene: HADHB was added
gene: HADHB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,South West GLH,London North GLH,Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy or pain disorder v0.1 HADHA Ellen McDonagh gene: HADHA was added
gene: HADHA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Red,South West GLH
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015
Hereditary neuropathy or pain disorder v0.1 GNB4 Ellen McDonagh gene: GNB4 was added
gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB4 were set to 27908631; 23434117; 28642160
Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185
Hereditary neuropathy or pain disorder v0.1 GLE1 Ellen McDonagh gene: GLE1 was added
gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLE1 were set to 18204449
Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
Hereditary neuropathy or pain disorder v0.1 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy andperipheral neuropathyin adulthood. Leukodystrophy; Spastic paraplegia 44, autosomal recessive, 613206
Hereditary neuropathy or pain disorder v0.1 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332916
Phenotypes for gene: GBA2 were set to SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy; Spastic paraplegia 46, autosomal recessive, 614409
Hereditary neuropathy or pain disorder v0.1 GATAD1 Ellen McDonagh gene: GATAD1 was added
gene: GATAD1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS
Mode of inheritance for gene: GATAD1 was set to
Phenotypes for gene: GATAD1 were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe. Spastic paraplegia, developmental delay, optic atrophy; Krabbe disease, 245200; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Hereditary neuropathy or pain disorder v0.1 GAA Ellen McDonagh gene: GAA was added
gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 24627108
Phenotypes for gene: GAA were set to Cardiomyopathy
Hereditary neuropathy or pain disorder v0.1 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH
Mode of inheritance for gene: FXN was set to
Phenotypes for gene: FXN were set to Hereditary Neuropathies