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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