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DDG2P v6.286 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGM was changed from Other to None
DDG2P v6.17 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFE3-related intellectual disability with pigmentary mosaicism and coarse features are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 1672758, 30595499, 31833172, 32409512, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03013.; Changed publications to: 1672758, 33057194, 30595499, 32409512, 31833172; Changed phenotypes to: OMIM:301066.0, MONDO:0859080, Intellectual disability with pigmentary mosaicism and storage disorder, TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features
DDG2P v6.17 PIGM Achchuthan Shanmugasundram edited their review of gene: PIGM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGM-related glycosylphosphatidylinositol deficiency are limited, biallelic_autosomal and undetermined (PMID:16767100). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02424.; Changed phenotypes to: MONDO:0012465, OMIM:610293.0, PIGM-related glycosylphosphatidylinositol deficiency, Glycosylphosphatidylinositol deficiency, OMIM:610293
DDG2P v6.17 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) are strong, biallelic_autosomal and loss of function (PMIDs: 27392078, 29074562, 30142437, 30300710, 30997404, 31953236, 35670385, 35699517, 37076692, 38333279). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02566.; Changed publications to: 35670385, 27392078, 31953236, 35699517, 30142437, 29074562, 38333279, 30300710, 30997404, 37076692; Changed phenotypes to: MONDO:0014890, Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), OMIM:617055.0, KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures)
DDG2P v6.17 FLVCR1 Achchuthan Shanmugasundram edited their review of gene: FLVCR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FLVCR1-related ataxia, posterior column, with retinitis pigmentosa are definitive, biallelic_autosomal and undetermined (PMIDs: 21070897, 21267618, 30656474, 9409377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00551.; Changed publications to: 21267618, 21070897, 30656474, 9409377; Changed phenotypes to: FLVCR1-related ataxia, posterior column, with retinitis pigmentosa, OMIM:609033.0, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033, MONDO:0012177
DDG2P v4.10 AGPAT3 Achchuthan Shanmugasundram reviewed gene: AGPAT3: Rating: RED; Mode of pathogenicity: ; Publications: 37821758; Phenotypes: AGPAT3-related intellectual disability and retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder
DDG2P v4.10 SCAPER Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa
DDG2P v4.10 POLA1 Achchuthan Shanmugasundram edited their review of gene: POLA1: Added comment: The DDG2P confidence category for the disease POLA1-related pigmentary disorder, reticulate, with systemic manifestations is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 27019277). The DDG2P confidence category for the disease VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 31006512).; Changed publications to: 27019277, 31006512; Changed phenotypes to: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030, POLA1-related pigmentary disorder, reticulate, with systemic manifestations
DDG2P v4.10 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).; Changed publications to: 35670385, 30997404, 31953236, 35699517, 30142437, 30300710, 37076692, 29074562, 38333279, 27392078; Changed phenotypes to: KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa)
DDG2P v4.10 ARL6 Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575
DDG2P v4.9 AGPAT3 Achchuthan Shanmugasundram gene: AGPAT3 was added
gene: AGPAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT3 were set to 37821758
Phenotypes for gene: AGPAT3 were set to AGPAT3-related intellectual disability and retinitis pigmentosa
DDG2P v3.12 XPC Achchuthan Shanmugasundram reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662655, 8298653, 19478817, 11511294, 9804340, 11121128; Phenotypes: XERODERMA PIGMENTOSUM, GROUP C, OMIM:278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPA Achchuthan Shanmugasundram reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 16098033, 1339397, 2234061, 10767341, 1372102; Phenotypes: XERODERMA PIGMENTOSUM, GROUP A, OMIM:278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC8 Achchuthan Shanmugasundram reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451172; Phenotypes: RETINITIS PIGMENTOSA TYPE 51, OMIM:613464, BARDET-BIEDL SYNDROME TYPE 8, OMIM:615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRNT1 Achchuthan Shanmugasundram reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25193871, 29170023, 27370603, 32592741, 33936027, 27389523, 32181284, 26494905, 33843817, 30758723; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TFE3 Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIGM Achchuthan Shanmugasundram reviewed gene: PIGM: Rating: RED; Mode of pathogenicity: Other; Publications: 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDE6G Achchuthan Shanmugasundram reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: 20655036; Phenotypes: RETINITIS PIGMENTOSA 57, OMIM:613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KLHL7 Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IKBKG Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21070897, 21267618, 9409377, 30656474; Phenotypes: ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM161A Achchuthan Shanmugasundram reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10507729, 26574802, 20705279, 20705278; Phenotypes: RETINITIS PIGMENTOSA 28, OMIM:606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC2 Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC5 Achchuthan Shanmugasundram reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11228268, 12060391, 7951246, 9096355, 23255472, 11841555, 11219864, 8818951; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G, OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC3 Achchuthan Shanmugasundram reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 4811796, 8408834; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPG5 Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDB2 Achchuthan Shanmugasundram reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10469312, 8798680, 12812979; Phenotypes: XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, OMIM:278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CWC27 Achchuthan Shanmugasundram reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718996, 28285769; Phenotypes: Retinitis pigmentosa, skeletal anomalies and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRB1 Achchuthan Shanmugasundram reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16543197, 19140180, 11231775, 11389483, 10508521; Phenotypes: CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa, OMIM:613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C2orf71 Achchuthan Shanmugasundram reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: 27029556, 20398886, 24780881, 20398884; Phenotypes: RETINITIS PIGMENTOSA 54, OMIM:613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ARL6 Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 TRNT1 Achchuthan Shanmugasundram gene: TRNT1 was added
gene: TRNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 25193871; 29170023; 27370603; 32592741; 33936027; 27389523; 32181284; 26494905; 33843817; 30758723
Phenotypes for gene: TRNT1 were set to Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959
DDG2P v3.11 TFE3 Achchuthan Shanmugasundram gene: TFE3 was added
gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172
Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder
Mode of pathogenicity for gene: TFE3 was set to Other
DDG2P v3.11 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EXOSC2 Achchuthan Shanmugasundram gene: EXOSC2 was added
gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 36069504; 26843489
Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
DDG2P v1.131 FAM161A Rebecca Foulger commented on gene: FAM161A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v1.48 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P records an MOI of hemizygous for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. DDG2P records an MOI of monoallelic for INCONTINENTIA PIGMENTI 308300.
DDG2P v0.95 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v0.55 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.; Changed rating: GREEN
DDG2P v0.16 KLHL7 Rebecca Foulger Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa; Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.9 KLHL7 Rebecca Foulger edited their review of gene: KLHL7: Added comment: New gene:disorder association added to DDG2P on 08/11/2018: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Rated probable in DDG2P for both Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa, and Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOI listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. No MOP listed in DD-G2P for Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.; Changed phenotypes: Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
DDG2P v0.2 PIGM Rebecca Foulger reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 XPC Rebecca Foulger gene: XPC was added
gene: XPC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPC were set to 14662655; 11121128; 9804340; 8298653; 19478817; 11511294
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C 278720
DDG2P v0.1 XPA Rebecca Foulger gene: XPA was added
gene: XPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 1339397; 1372102; 2234061; 16098033
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A 278700
DDG2P v0.1 TTC8 Rebecca Foulger gene: TTC8 was added
gene: TTC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC8 were set to 20451172
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51 613464
DDG2P v0.1 SOX10 Rebecca Foulger Added phenotypes YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706 for gene: SOX10
DDG2P v0.1 PIGM Rebecca Foulger gene: PIGM was added
gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 16767100
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency
Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments
DDG2P v0.1 PDE6G Rebecca Foulger gene: PDE6G was added
gene: PDE6G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6G were set to 20655036
Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 613582
DDG2P v0.1 KLHL7 Rebecca Foulger gene: KLHL7 was added
gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL7 were set to 27392078
Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments
DDG2P v0.1 IKBKG Rebecca Foulger Added phenotypes INCONTINENTIA PIGMENTI 308300 for gene: IKBKG
Publications for gene IKBKG were changed from 15356572; 15577852 to 10839543; 9450877
DDG2P v0.1 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21070897; 9409377; 21267618
Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033
Mode of pathogenicity for gene: FLVCR1 was set to Other - please provide details in the comments
DDG2P v0.1 FAM161A Rebecca Foulger gene: FAM161A was added
gene: FAM161A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 606068
DDG2P v0.1 ERCC5 Rebecca Foulger gene: ERCC5 was added
gene: ERCC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268
Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
DDG2P v0.1 ERCC4 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM, GROUP F 278760 for gene: ERCC4
Publications for gene ERCC4 were changed from 17183314 to 8797827; 3372781
DDG2P v0.1 ERCC3 Rebecca Foulger gene: ERCC3 was added
gene: ERCC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 4811796; 16947863; 8408834
Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651
DDG2P v0.1 ERCC2 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 for gene: ERCC2
Publications for gene ERCC2 were changed from 11443545 to 9101292; 7849702; 7585650; 11443545; 11709541
DDG2P v0.1 EPG5 Rebecca Foulger gene: EPG5 was added
gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 3344762
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840
DDG2P v0.1 DDB2 Rebecca Foulger gene: DDB2 was added
gene: DDB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDB2 were set to 10469312; 12812979; 8798680
Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740
DDG2P v0.1 CWC27 Rebecca Foulger gene: CWC27 was added
gene: CWC27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability
DDG2P v0.1 CRB1 Rebecca Foulger gene: CRB1 was added
gene: CRB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB1 were set to 10508521; 19140180; 11389483
Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
DDG2P v0.1 C2orf71 Rebecca Foulger gene: C2orf71 was added
gene: C2orf71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 613428
DDG2P v0.1 ARL6 Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6
Publications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407