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Pigmentary skin disorders v1.5 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Pigmentary skin disorders v1.4 NOP10 Arina Puzriakova Phenotypes for gene: NOP10 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230 to Dyskeratosis congenita, autosomal recessive 1, 224230
Pigmentary skin disorders v1.3 Sarah Leigh Panel version has been signed off
Pigmentary skin disorders v1.0 Louise Daugherty promoted panel to version 1.0
Pigmentary skin disorders v0.28 Louise Daugherty List of related panels changed from to R236
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Pigmentary skin disorders v0.27 XRCC2 Catherine Snow Source Expert Review Amber was added to XRCC2.
Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU for gene: XRCC2
Publications for gene XRCC2 were changed from to 22232082
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Pigmentary skin disorders v0.27 WRAP53 Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53
Publications for gene WRAP53 were changed from to 21205863
Pigmentary skin disorders v0.27 USB1 Catherine Snow Added phenotypes PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1
Publications for gene USB1 were changed from to 20004881
Pigmentary skin disorders v0.27 UBE2T Catherine Snow Added phenotypes FANCT; FANCONI ANEMIA, COMPLEMENTATION GROUP T for gene: UBE2T
Publications for gene UBE2T were changed from to 26046368
Pigmentary skin disorders v0.27 TYRP1 Catherine Snow Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1
Publications for gene TYRP1 were changed from to 9345097
Pigmentary skin disorders v0.27 TYR Catherine Snow Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR
Publications for gene TYR were changed from to 18326704
Pigmentary skin disorders v0.27 TSC2 Catherine Snow Added phenotypes TUBEROUS SCLEROSIS 2; TSC2 for gene: TSC2
Publications for gene TSC2 were changed from to 12111193
Pigmentary skin disorders v0.27 TSC1 Catherine Snow Added phenotypes TSC1; TUBEROUS SCLEROSIS 1 for gene: TSC1
Publications for gene TSC1 were changed from to 10227394
Pigmentary skin disorders v0.27 TMC8 Catherine Snow Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 for gene: TMC8
Publications for gene TMC8 were changed from to 12426567
Pigmentary skin disorders v0.27 TMC6 Catherine Snow Added phenotypes EV1; EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 for gene: TMC6
Publications for gene TMC6 were changed from to 12426567
Pigmentary skin disorders v0.27 TINF2 Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3, REVESZ SYNDROME for gene: TINF2
Publications for gene TINF2 were changed from to 21477109; 18252230
Pigmentary skin disorders v0.27 TERT Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT
Publications for gene TERT were changed from to 17785587; 18460650
Pigmentary skin disorders v0.27 TERC Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 for gene: TERC
Publications for gene TERC were changed from to 11574891
Pigmentary skin disorders v0.27 STK11 Catherine Snow Added phenotypes PJS; PEUTZ-JEGHERS SYNDROME for gene: STK11
Publications for gene STK11 were changed from to 9425897
Pigmentary skin disorders v0.27 SPRED1 Catherine Snow Added phenotypes LEGIUS SYNDROME; LGSS for gene: SPRED1
Publications for gene SPRED1 were changed from to 17704776
Pigmentary skin disorders v0.27 SOX18 Catherine Snow Added phenotypes HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS for gene: SOX18
Publications for gene SOX18 were changed from to 12740761
Pigmentary skin disorders v0.27 SOX10 Catherine Snow Added phenotypes WS4C, WAARDENBURG SYNDROME, TYPE 2E; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS2E for gene: SOX10
Publications for gene SOX10 were changed from to 9462749; 21965087; 10762540
Pigmentary skin disorders v0.27 SOS2 Catherine Snow Added phenotypes NS9; NOONAN SYNDROME 9 for gene: SOS2
Publications for gene SOS2 were changed from 25795793; 26173643 to 25795793
Pigmentary skin disorders v0.27 SOS1 Catherine Snow Added phenotypes NOONAN SYNDROME 4; NS4 for gene: SOS1
Publications for gene SOS1 were changed from to 17143285
Pigmentary skin disorders v0.27 SLX4 Catherine Snow Added phenotypes FANCP; FANCONI ANEMIA, COMPLEMENTATION GROUP P for gene: SLX4
Publications for gene SLX4 were changed from to 21240277
Pigmentary skin disorders v0.27 SLC45A2 Catherine Snow Added phenotypes OCA4; ALBINISM, OCULOCUTANEOUS, TYPE IV for gene: SLC45A2
Publications for gene SLC45A2 were changed from to 14722913
Pigmentary skin disorders v0.27 SLC29A3 Catherine Snow Added phenotypes HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME for gene: SLC29A3
Publications for gene SLC29A3 were changed from to 18940313
Pigmentary skin disorders v0.27 SLC24A5 Catherine Snow Added phenotypes OCA6; ALBINISM, OCULOCUTANEOUS, TYPE VI for gene: SLC24A5
Publications for gene SLC24A5 were changed from to 23364476
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
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
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
Pigmentary skin disorders v0.23 XRCC2 Catherine Snow Source Expert Review Green was added to XRCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCM Catherine Snow Source Expert Review Green was added to FANCM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 RAD51C Catherine Snow Source Expert Review Green was added to RAD51C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 MAD2L2 Catherine Snow Source Expert Review Green was added to MAD2L2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 UBE2T Catherine Snow Source Expert Review Green was added to UBE2T.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCL Catherine Snow Source Expert Review Green was added to FANCL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCI Catherine Snow Source Expert Review Green was added to FANCI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCG Catherine Snow Source Expert Review Green was added to FANCG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCF Catherine Snow Source Expert Review Green was added to FANCF.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCE Catherine Snow Source Expert Review Green was added to FANCE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCD2 Catherine Snow Source Expert Review Green was added to FANCD2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCC Catherine Snow Source Expert Review Green was added to FANCC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCB Catherine Snow Source Expert Review Green was added to FANCB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 FANCA Catherine Snow Source Expert Review Green was added to FANCA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 ERCC4 Catherine Snow Source Expert Review Green was added to ERCC4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRIP1 Catherine Snow Source Expert Review Green was added to BRIP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA2 Catherine Snow Source Expert Review Green was added to BRCA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.23 BRCA1 Catherine Snow Source Expert Review Green was added to BRCA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v0.22 XRCC2 Catherine Snow reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCM Catherine Snow reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 RAD51C Catherine Snow reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 MAD2L2 Catherine Snow reviewed gene: MAD2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 UBE2T Catherine Snow reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCL Catherine Snow reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCI Catherine Snow reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCG Catherine Snow reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCF Catherine Snow reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCE Catherine Snow reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCD2 Catherine Snow reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCC Catherine Snow reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCB Catherine Snow reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 FANCA Catherine Snow reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 ERCC4 Catherine Snow reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRIP1 Catherine Snow reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA2 Catherine Snow reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.22 BRCA1 Catherine Snow reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.21 XRCC2 Catherine Snow gene: XRCC2 was added
gene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCM Catherine Snow gene: FANCM was added
gene: FANCM was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 RAD51C Catherine Snow gene: RAD51C was added
gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 MAD2L2 Catherine Snow gene: MAD2L2 was added
gene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 UBE2T Catherine Snow gene: UBE2T was added
gene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCL Catherine Snow gene: FANCL was added
gene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCI Catherine Snow gene: FANCI was added
gene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCG Catherine Snow gene: FANCG was added
gene: FANCG was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCF Catherine Snow gene: FANCF was added
gene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCE Catherine Snow gene: FANCE was added
gene: FANCE was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCD2 Catherine Snow gene: FANCD2 was added
gene: FANCD2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCC Catherine Snow gene: FANCC was added
gene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 FANCB Catherine Snow gene: FANCB was added
gene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pigmentary skin disorders v0.21 FANCA Catherine Snow gene: FANCA was added
gene: FANCA was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 ERCC4 Catherine Snow gene: ERCC4 was added
gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRIP1 Catherine Snow gene: BRIP1 was added
gene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA2 Catherine Snow gene: BRCA2 was added
gene: BRCA2 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.21 BRCA1 Catherine Snow gene: BRCA1 was added
gene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.20 PMS2 Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change PMS2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Pigmentary skin disorders v0.20 PMS2 Catherine Snow Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.19 MSH6 Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MSH6 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Pigmentary skin disorders v0.19 MSH6 Catherine Snow Mode of inheritance for gene: MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.18 MSH2 Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MSH2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Pigmentary skin disorders v0.18 MSH2 Catherine Snow Mode of inheritance for gene: MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.17 MLH1 Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MLH1 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Pigmentary skin disorders v0.17 MLH1 Catherine Snow Mode of inheritance for gene: MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.16 PALB2 Catherine Snow Added comment: Comment on mode of inheritance: Advice from clinical team to change PALB2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Pigmentary skin disorders v0.16 PALB2 Catherine Snow Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.15 ISCA-37431-Loss Catherine Snow Classified Region: ISCA-37431-Loss as Green List (high evidence)
Pigmentary skin disorders v0.15 ISCA-37431-Loss Catherine Snow Region: isca-37431-loss has been classified as Green List (High Evidence).
Pigmentary skin disorders v0.14 ISCA-37431-Loss Catherine Snow Region: ISCA-37431-Loss was added
Region: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review
Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb
Review for Region: ISCA-37431-Loss was set to GREEN
Added comment: Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green region.
Sources: ClinGen, Expert Review
Pigmentary skin disorders v0.13 SOS2 Catherine Snow commented on gene: SOS2
Pigmentary skin disorders v0.13 RASA2 Catherine Snow commented on gene: RASA2
Pigmentary skin disorders v0.13 A2ML1 Catherine Snow commented on gene: A2ML1
Pigmentary skin disorders v0.13 PPP1CB Catherine Snow commented on gene: PPP1CB
Pigmentary skin disorders v0.13 MAP2K1 Catherine Snow commented on gene: MAP2K1
Pigmentary skin disorders v0.13 LZTR1 Catherine Snow commented on gene: LZTR1
Pigmentary skin disorders v0.13 MLPH Catherine Snow reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.13 IL31RA Catherine Snow reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.12 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Pigmentary skin disorders v0.12 ARSE Louise Daugherty commented on gene: ARSE
Pigmentary skin disorders v0.12 RASA2 Catherine Snow gene: RASA2 was added
gene: RASA2 was added to Pigmentary skin disorders. Sources: Other
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA2 were set to 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome?
Pigmentary skin disorders v0.12 A2ML1 Catherine Snow gene: A2ML1 was added
gene: A2ML1 was added to Pigmentary skin disorders. Sources: Expert Review Red,Other
Mode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: A2ML1 were set to 24939586; 27942422; 25862627
Phenotypes for gene: A2ML1 were set to Noonan syndrome
Pigmentary skin disorders v0.12 SOS2 Catherine Snow gene: SOS2 was added
gene: SOS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Pigmentary skin disorders v0.12 PPP1CB Catherine Snow gene: PPP1CB was added
gene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Pigmentary skin disorders v0.12 MAP2K1 Catherine Snow gene: MAP2K1 was added
gene: MAP2K1 was added to Pigmentary skin disorders. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 3
Pigmentary skin disorders v0.12 LZTR1 Catherine Snow gene: LZTR1 was added
gene: LZTR1 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 25795793; 29469822
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670
Pigmentary skin disorders v0.11 MLPH Catherine Snow gene: MLPH was added
gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.11 IL31RA Catherine Snow gene: IL31RA was added
gene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders v0.8 TSC2 Anna de Burca reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 TSC1 Anna de Burca reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 KIT Anna de Burca reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, Gastrointestinal stromal tumor, familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 NF1 Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 VDR Rebecca Foulger Source London North GLH was added to VDR.
Pigmentary skin disorders v0.8 OFD1 Rebecca Foulger Source London North GLH was added to OFD1.
Pigmentary skin disorders v0.8 NOP10 Rebecca Foulger Source London North GLH was added to NOP10.
Pigmentary skin disorders v0.8 IRF4 Rebecca Foulger Source London North GLH was added to IRF4.
Pigmentary skin disorders v0.8 FLNA Rebecca Foulger Source London North GLH was added to FLNA.
Pigmentary skin disorders v0.8 BNC2 Rebecca Foulger Source London North GLH was added to BNC2.
Pigmentary skin disorders v0.8 ASIP Rebecca Foulger Source London North GLH was added to ASIP.
Pigmentary skin disorders v0.8 WRAP53 Rebecca Foulger Source London North GLH was added to WRAP53.
Pigmentary skin disorders v0.8 USB1 Rebecca Foulger Source London North GLH was added to USB1.
Pigmentary skin disorders v0.8 TYRP1 Rebecca Foulger Source London North GLH was added to TYRP1.
Pigmentary skin disorders v0.8 TYR Rebecca Foulger Source London North GLH was added to TYR.
Pigmentary skin disorders v0.8 TSC2 Rebecca Foulger Source London North GLH was added to TSC2.
Pigmentary skin disorders v0.8 TSC1 Rebecca Foulger Source London North GLH was added to TSC1.
Pigmentary skin disorders v0.8 TMC8 Rebecca Foulger Source London North GLH was added to TMC8.
Pigmentary skin disorders v0.8 TMC6 Rebecca Foulger Source London North GLH was added to TMC6.
Pigmentary skin disorders v0.8 TINF2 Rebecca Foulger Source London North GLH was added to TINF2.
Pigmentary skin disorders v0.8 TERT Rebecca Foulger Source London North GLH was added to TERT.
Pigmentary skin disorders v0.8 TERC Rebecca Foulger Source London North GLH was added to TERC.
Pigmentary skin disorders v0.8 STK11 Rebecca Foulger Source London North GLH was added to STK11.
Pigmentary skin disorders v0.8 SPRED1 Rebecca Foulger Source London North GLH was added to SPRED1.
Pigmentary skin disorders v0.8 SOX18 Rebecca Foulger Source London North GLH was added to SOX18.
Pigmentary skin disorders v0.8 SOX10 Rebecca Foulger Source London North GLH was added to SOX10.
Pigmentary skin disorders v0.8 SOS1 Rebecca Foulger Source London North GLH was added to SOS1.
Pigmentary skin disorders v0.8 SNAI2 Rebecca Foulger Source London North GLH was added to SNAI2.
Pigmentary skin disorders v0.8 SLX4 Rebecca Foulger Source London North GLH was added to SLX4.
Pigmentary skin disorders v0.8 SLC45A2 Rebecca Foulger Source London North GLH was added to SLC45A2.
Pigmentary skin disorders v0.8 SLC29A3 Rebecca Foulger Source London North GLH was added to SLC29A3.
Pigmentary skin disorders v0.8 SLC24A5 Rebecca Foulger Source London North GLH was added to SLC24A5.
Pigmentary skin disorders v0.8 SHOC2 Rebecca Foulger Source London North GLH was added to SHOC2.
Pigmentary skin disorders v0.8 SASH1 Rebecca Foulger Source London North GLH was added to SASH1.
Pigmentary skin disorders v0.8 SAMD9 Rebecca Foulger Source London North GLH was added to SAMD9.
Pigmentary skin disorders v0.8 RIT1 Rebecca Foulger Source London North GLH was added to RIT1.
Pigmentary skin disorders v0.8 RECQL4 Rebecca Foulger Source London North GLH was added to RECQL4.
Pigmentary skin disorders v0.8 RAF1 Rebecca Foulger Source London North GLH was added to RAF1.
Pigmentary skin disorders v0.8 RAB27A Rebecca Foulger Source London North GLH was added to RAB27A.
Pigmentary skin disorders v0.8 PTPN11 Rebecca Foulger Source London North GLH was added to PTPN11.
Pigmentary skin disorders v0.8 PTEN Rebecca Foulger Source London North GLH was added to PTEN.
Pigmentary skin disorders v0.8 PSENEN Rebecca Foulger Source London North GLH was added to PSENEN.
Pigmentary skin disorders v0.8 PRKAR1A Rebecca Foulger Source London North GLH was added to PRKAR1A.
Pigmentary skin disorders v0.8 PORCN Rebecca Foulger Source London North GLH was added to PORCN.
Pigmentary skin disorders v0.8 POGLUT1 Rebecca Foulger Source London North GLH was added to POGLUT1.
Pigmentary skin disorders v0.8 POFUT1 Rebecca Foulger Source London North GLH was added to POFUT1.
Pigmentary skin disorders v0.8 PMS2 Rebecca Foulger Source London North GLH was added to PMS2.
Pigmentary skin disorders v0.8 PIK3CA Rebecca Foulger Source London North GLH was added to PIK3CA.
Pigmentary skin disorders v0.8 PAX3 Rebecca Foulger Source London North GLH was added to PAX3.
Pigmentary skin disorders v0.8 PALB2 Rebecca Foulger Source London North GLH was added to PALB2.
Pigmentary skin disorders v0.8 OSMR Rebecca Foulger Source London North GLH was added to OSMR.
Pigmentary skin disorders v0.8 OCA2 Rebecca Foulger Source London North GLH was added to OCA2.
Pigmentary skin disorders v0.8 NRAS Rebecca Foulger Source London North GLH was added to NRAS.
Pigmentary skin disorders v0.8 NF2 Rebecca Foulger Source London North GLH was added to NF2.
Pigmentary skin disorders v0.8 NF1 Rebecca Foulger Source London North GLH was added to NF1.
Pigmentary skin disorders v0.8 MYO5A Rebecca Foulger Source London North GLH was added to MYO5A.
Pigmentary skin disorders v0.8 MTOR Rebecca Foulger Source London North GLH was added to MTOR.
Pigmentary skin disorders v0.8 MSH6 Rebecca Foulger Source London North GLH was added to MSH6.
Pigmentary skin disorders v0.8 MSH2 Rebecca Foulger Source London North GLH was added to MSH2.
Pigmentary skin disorders v0.8 MLH1 Rebecca Foulger Source London North GLH was added to MLH1.
Pigmentary skin disorders v0.8 MITF Rebecca Foulger Source London North GLH was added to MITF.
Pigmentary skin disorders v0.8 MC1R Rebecca Foulger Source London North GLH was added to MC1R.
Pigmentary skin disorders v0.8 MAP2K2 Rebecca Foulger Source London North GLH was added to MAP2K2.
Pigmentary skin disorders v0.8 LYST Rebecca Foulger Source London North GLH was added to LYST.
Pigmentary skin disorders v0.8 KRT5 Rebecca Foulger Source London North GLH was added to KRT5.
Pigmentary skin disorders v0.8 KRT14 Rebecca Foulger Source London North GLH was added to KRT14.
Pigmentary skin disorders v0.8 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Pigmentary skin disorders v0.8 KRAS Rebecca Foulger Source London North GLH was added to KRAS.
Pigmentary skin disorders v0.8 KITLG Rebecca Foulger Source London North GLH was added to KITLG.
Pigmentary skin disorders v0.8 KIT Rebecca Foulger Source London North GLH was added to KIT.
Pigmentary skin disorders v0.8 HRAS Rebecca Foulger Source London North GLH was added to HRAS.
Pigmentary skin disorders v0.8 HPS1 Rebecca Foulger Source London North GLH was added to HPS1.
Pigmentary skin disorders v0.8 GPNMB Rebecca Foulger Source London North GLH was added to GPNMB.
Pigmentary skin disorders v0.8 GNAS Rebecca Foulger Source London North GLH was added to GNAS.
Pigmentary skin disorders v0.8 GNAQ Rebecca Foulger Source London North GLH was added to GNAQ.
Pigmentary skin disorders v0.8 GNA11 Rebecca Foulger Source London North GLH was added to GNA11.
Pigmentary skin disorders v0.8 GJB4 Rebecca Foulger Source London North GLH was added to GJB4.
Pigmentary skin disorders v0.8 GJB3 Rebecca Foulger Source London North GLH was added to GJB3.
Pigmentary skin disorders v0.8 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Pigmentary skin disorders v0.8 GALNT3 Rebecca Foulger Source London North GLH was added to GALNT3.
Pigmentary skin disorders v0.8 FGF23 Rebecca Foulger Source London North GLH was added to FGF23.
Pigmentary skin disorders v0.8 FAM111B Rebecca Foulger Source London North GLH was added to FAM111B.
Pigmentary skin disorders v0.8 ENPP1 Rebecca Foulger Source London North GLH was added to ENPP1.
Pigmentary skin disorders v0.8 EDNRB Rebecca Foulger Source London North GLH was added to EDNRB.
Pigmentary skin disorders v0.8 EDN3 Rebecca Foulger Source London North GLH was added to EDN3.
Pigmentary skin disorders v0.8 DKC1 Rebecca Foulger Source London North GLH was added to DKC1.
Pigmentary skin disorders v0.8 CIB1 Rebecca Foulger Source London North GLH was added to CIB1.
Pigmentary skin disorders v0.8 CDKN2A Rebecca Foulger Source London North GLH was added to CDKN2A.
Pigmentary skin disorders v0.8 CDK4 Rebecca Foulger Source London North GLH was added to CDK4.
Pigmentary skin disorders v0.8 CBL Rebecca Foulger Source London North GLH was added to CBL.
Pigmentary skin disorders v0.8 BRAF Rebecca Foulger Source London North GLH was added to BRAF.
Pigmentary skin disorders v0.8 BAP1 Rebecca Foulger Source London North GLH was added to BAP1.
Pigmentary skin disorders v0.8 ARSE Rebecca Foulger Source London North GLH was added to ARSE.
Pigmentary skin disorders v0.8 AP3B1 Rebecca Foulger Source London North GLH was added to AP3B1.
Pigmentary skin disorders v0.8 ADAR Rebecca Foulger Source London North GLH was added to ADAR.
Pigmentary skin disorders v0.8 ADAM10 Rebecca Foulger Source London North GLH was added to ADAM10.
Pigmentary skin disorders v0.8 ABCD4 Rebecca Foulger Source London North GLH was added to ABCD4.
Pigmentary skin disorders v0.8 ABCB6 Rebecca Foulger Source London North GLH was added to ABCB6.
Pigmentary skin disorders v0.7 MITF Rebecca Foulger commented on gene: MITF: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2A and WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, plus Green on the 'Hearing loss' panel with Waardenburg phenotype.
Pigmentary skin disorders v0.7 EDNRB Rebecca Foulger commented on gene: EDNRB: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. EDNRB is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list".
Pigmentary skin disorders v0.7 EDN3 Rebecca Foulger commented on gene: EDN3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation .EDN3 is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list".
Pigmentary skin disorders v0.7 SOX10 Rebecca Foulger commented on gene: SOX10: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2E and WAARDENBURG SYNDROME TYPE 4C, and Green on the 'Hearing loss' panel with Waardenburg phenotypes.
Pigmentary skin disorders v0.7 PAX3 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI is monoallelic (AD) for Waardenburg syndrome, type 1, 193500. MOI is both monoallelic and biallelic (AD, AR) for Waardenburg syndrome, type 3, 148820.
Pigmentary skin disorders v0.7 PAX3 Rebecca Foulger Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pigmentary skin disorders v0.6 PAX3 Rebecca Foulger commented on gene: PAX3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. PAX3 is Green on 'Hearing loss' panel with 'Waardenburg phenotypes, and has a confirmed rating on DD-G2P for WAARDENBURG SYNDROME, TYPE 1.
Pigmentary skin disorders v0.6 Rebecca Foulger removed gene:MAP2K1 from the panel
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Classified gene: MAP2K1 as No list
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion).
Pigmentary skin disorders v0.5 MAP2K1 Rebecca Foulger Gene: map2k1 has been removed from the panel.
Pigmentary skin disorders v0.4 WRAP53 Rebecca Foulger reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 VDR Rebecca Foulger reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 USB1 Rebecca Foulger reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TYRP1 Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TYR Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TMC8 Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TMC6 Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TINF2 Rebecca Foulger reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TERT Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 TERC Rebecca Foulger reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 STK11 Rebecca Foulger reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SPRED1 Rebecca Foulger reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOX18 Rebecca Foulger reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOX10 Rebecca Foulger reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SOS1 Rebecca Foulger reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SNAI2 Rebecca Foulger reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLX4 Rebecca Foulger reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC45A2 Rebecca Foulger reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC29A3 Rebecca Foulger reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SLC24A5 Rebecca Foulger reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SASH1 Rebecca Foulger reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 SAMD9 Rebecca Foulger reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 RAB27A Rebecca Foulger reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PSENEN Rebecca Foulger reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 POGLUT1 Rebecca Foulger reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 POFUT1 Rebecca Foulger reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PMS2 Rebecca Foulger reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OSMR Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 OCA2 Rebecca Foulger reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NOP10 Rebecca Foulger reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NF2 Rebecca Foulger reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MSH6 Rebecca Foulger reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MSH2 Rebecca Foulger reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MLH1 Rebecca Foulger reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MITF Rebecca Foulger reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MC1R Rebecca Foulger reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 LYST Rebecca Foulger reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT5 Rebecca Foulger reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT14 Rebecca Foulger reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KITLG Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 KIT Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 IRF4 Rebecca Foulger reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 HPS1 Rebecca Foulger reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GPNMB Rebecca Foulger reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJB4 Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 GALNT3 Rebecca Foulger reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FLNA Rebecca Foulger reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FGF23 Rebecca Foulger reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 FAM111B Rebecca Foulger reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 EDN3 Rebecca Foulger reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 DKC1 Rebecca Foulger reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CIB1 Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CDKN2A Rebecca Foulger reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CDK4 Rebecca Foulger reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 CBL Rebecca Foulger reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BNC2 Rebecca Foulger reviewed gene: BNC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 BAP1 Rebecca Foulger reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ASIP Rebecca Foulger reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 AP3B1 Rebecca Foulger reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ADAM10 Rebecca Foulger reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ABCD4 Rebecca Foulger reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.4 ABCB6 Rebecca Foulger reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.3 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VDR was set to
Phenotypes for gene: VDR were set to Susceptibility to skin cancer
Pigmentary skin disorders v0.3 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Pigmentary skin disorders v0.3 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis
Pigmentary skin disorders v0.3 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis
Pigmentary skin disorders v0.3 TMC8 Rebecca Foulger gene: TMC8 was added
gene: TMC8 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231
Pigmentary skin disorders v0.3 TMC6 Rebecca Foulger gene: TMC6 was added
gene: TMC6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400
Pigmentary skin disorders v0.3 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Revesz syndrome; Dyskeratosis congenita
Pigmentary skin disorders v0.3 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita
Pigmentary skin disorders v0.3 TERC Rebecca Foulger gene: TERC was added
gene: TERC was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 STK11 Rebecca Foulger gene: STK11 was added
gene: STK11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome
Pigmentary skin disorders v0.3 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPRED1 were set to Legius syndrome
Pigmentary skin disorders v0.3 SOX18 Rebecca Foulger gene: SOX18 was added
gene: SOX18 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome
Pigmentary skin disorders v0.3 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOS1 were set to Noonan syndrome
Pigmentary skin disorders v0.3 SNAI2 Rebecca Foulger gene: SNAI2 was added
gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAI2 were set to Piebaldism
Pigmentary skin disorders v0.3 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi Anaemia
Pigmentary skin disorders v0.3 SLC45A2 Rebecca Foulger gene: SLC45A2 was added
gene: SLC45A2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism; Predisposition to melanoma
Pigmentary skin disorders v0.3 SLC29A3 Rebecca Foulger gene: SLC29A3 was added
gene: SLC29A3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome/H disease
Pigmentary skin disorders v0.3 SLC24A5 Rebecca Foulger gene: SLC24A5 was added
gene: SLC24A5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Oculocutaneous albinism; Predisposition to melanoma
Pigmentary skin disorders v0.3 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Pigmentary skin disorders v0.3 SASH1 Rebecca Foulger gene: SASH1 was added
gene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het)
Pigmentary skin disorders v0.3 SAMD9 Rebecca Foulger gene: SAMD9 was added
gene: SAMD9 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RIT1 were set to Noonan syndrome 8, 615355
Pigmentary skin disorders v0.3 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome
Pigmentary skin disorders v0.3 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Pigmentary skin disorders v0.3 RAB27A Rebecca Foulger gene: RAB27A was added
gene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome
Pigmentary skin disorders v0.3 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)
Pigmentary skin disorders v0.3 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma
Pigmentary skin disorders v0.3 PSENEN Rebecca Foulger gene: PSENEN was added
gene: PSENEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSENEN were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Pigmentary skin disorders v0.3 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PORCN 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: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa
Pigmentary skin disorders v0.3 POGLUT1 Rebecca Foulger gene: POGLUT1 was added
gene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 POFUT1 Rebecca Foulger gene: POFUT1 was added
gene: POFUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POFUT1 were set to Dowling-Degos disease
Pigmentary skin disorders v0.3 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations
Pigmentary skin disorders v0.3 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 PALB2 Rebecca Foulger gene: PALB2 was added
gene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PALB2 were set to Fanconi Anaemia
Pigmentary skin disorders v0.3 OSMR Rebecca Foulger gene: OSMR was added
gene: OSMR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis cutis
Pigmentary skin disorders v0.3 OFD1 Rebecca Foulger gene: OFD1 was added
gene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: OFD1 was set to
Phenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects
Pigmentary skin disorders v0.3 OCA2 Rebecca Foulger gene: OCA2 was added
gene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Oculocutaneous albinism
Pigmentary skin disorders v0.3 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome
Pigmentary skin disorders v0.3 NOP10 Rebecca Foulger gene: NOP10 was added
gene: NOP10 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230
Pigmentary skin disorders v0.3 NF2 Rebecca Foulger gene: NF2 was added
gene: NF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis type 2
Pigmentary skin disorders v0.3 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Neurofibromatosis type I
Pigmentary skin disorders v0.3 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to Griscelli syndrome
Pigmentary skin disorders v0.3 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Pigmentary skin disorders v0.3 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to MISMATCH REPAIR CANCER SYNDROME, 276300
Pigmentary skin disorders v0.3 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 MC1R Rebecca Foulger gene: MC1R was added
gene: MC1R was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC1R were set to Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Pigmentary skin disorders v0.3 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome
Pigmentary skin disorders v0.3 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome
Pigmentary skin disorders v0.3 KRT5 Rebecca Foulger gene: KRT5 was added
gene: KRT5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Dowling-Degos disease; Epidermolysis bullosa
Pigmentary skin disorders v0.3 KRT14 Rebecca Foulger gene: KRT14 was added
gene: KRT14 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa
Pigmentary skin disorders v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Pigmentary skin disorders v0.3 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRAS were set to NOONAN SYNDROME 3, 609942
Pigmentary skin disorders v0.3 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KITLG were set to Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation
Pigmentary skin disorders v0.3 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism
Pigmentary skin disorders v0.3 IRF4 Rebecca Foulger gene: IRF4 was added
gene: IRF4 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IRF4 was set to
Phenotypes for gene: IRF4 were set to Pigmentation,susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi
Pigmentary skin disorders v0.3 HPS1 Rebecca Foulger gene: HPS1 was added
gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome
Pigmentary skin disorders v0.3 GPNMB Rebecca Foulger gene: GPNMB was added
gene: GPNMB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPNMB were set to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920
Pigmentary skin disorders v0.3 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to McCune-Albright syndrome
Pigmentary skin disorders v0.3 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome
Pigmentary skin disorders v0.3 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis
Pigmentary skin disorders v0.3 GJB4 Rebecca Foulger gene: GJB4 was added
gene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis
Pigmentary skin disorders v0.3 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis
Pigmentary skin disorders v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525
Pigmentary skin disorders v0.3 GALNT3 Rebecca Foulger gene: GALNT3 was added
gene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 FLNA Rebecca Foulger gene: FLNA was added
gene: FLNA was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Terminal osseous dysplasia with pigmentary defects
Pigmentary skin disorders v0.3 FGF23 Rebecca Foulger gene: FGF23 was added
gene: FGF23 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis
Pigmentary skin disorders v0.3 FAM111B Rebecca Foulger gene: FAM111B was added
gene: FAM111B was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma
Pigmentary skin disorders v0.3 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Cole disease
Pigmentary skin disorders v0.3 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 EDN3 Rebecca Foulger gene: EDN3 was added
gene: EDN3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome
Pigmentary skin disorders v0.3 DKC1 Rebecca Foulger gene: DKC1 was added
gene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita
Pigmentary skin disorders v0.3 CIB1 Rebecca Foulger gene: CIB1 was added
gene: CIB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267
Pigmentary skin disorders v0.3 CDKN2A Rebecca Foulger gene: CDKN2A was added
gene: CDKN2A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN2A were set to Melanoma susceptibility
Pigmentary skin disorders v0.3 CDK4 Rebecca Foulger gene: CDK4 was added
gene: CDK4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma susceptibility
Pigmentary skin disorders v0.3 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan-like disorder
Pigmentary skin disorders v0.3 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome; Melanocytic naevi
Pigmentary skin disorders v0.3 BNC2 Rebecca Foulger gene: BNC2 was added
gene: BNC2 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: BNC2 was set to
Phenotypes for gene: BNC2 were set to Pigmentation, susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 BAP1 Rebecca Foulger gene: BAP1 was added
gene: BAP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Melanoma susceptility
Pigmentary skin disorders v0.3 ASIP Rebecca Foulger gene: ASIP was added
gene: ASIP was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ASIP was set to
Phenotypes for gene: ASIP were set to Pigmentation, susceptibility to facial pigmented spots
Pigmentary skin disorders v0.3 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata
Pigmentary skin disorders v0.3 AP3B1 Rebecca Foulger gene: AP3B1 was added
gene: AP3B1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome
Pigmentary skin disorders v0.3 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)
Pigmentary skin disorders v0.3 ADAM10 Rebecca Foulger gene: ADAM10 was added
gene: ADAM10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAM10 were set to Reticulate acropigmentation of Kitamura
Pigmentary skin disorders v0.3 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect
Pigmentary skin disorders v0.3 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCB6 were set to DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Pigmentary skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Pigmentary skin disorders v0.0 Ellen McDonagh Added Panel Pigmentary skin disorders
Set panel types to: GMS Rare Disease