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DDG2P v0.1 EMC1 Rebecca Foulger gene: EMC1 was added
gene: EMC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
DDG2P v0.1 ELP2 Rebecca Foulger gene: ELP2 was added
gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP2 were set to 21937992
Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments
DDG2P v0.1 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
DDG2P v0.1 ELN Rebecca Foulger Added phenotypes SUPRAVALVAR AORTIC STENOSIS 185500 for gene: ELN
Publications for gene ELN were changed from to 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671
DDG2P v0.1 ELN Rebecca Foulger gene: ELN was added
gene: ELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA 314088
DDG2P v0.1 ELMO2 Rebecca Foulger gene: ELMO2 was added
gene: ELMO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation
DDG2P v0.1 ELAC2 Rebecca Foulger gene: ELAC2 was added
gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to 23849775; 27769300
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010
DDG2P v0.1 EIF4A3 Rebecca Foulger gene: EIF4A3 was added
gene: EIF4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF4A3 were set to 24360810
Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME
Mode of pathogenicity for gene: EIF4A3 was set to Other - please provide details in the comments
DDG2P v0.1 EIF2S3 Rebecca Foulger gene: EIF2S3 was added
gene: EIF2S3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 27333055; 23063529
Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly
DDG2P v0.1 EIF2AK3 Rebecca Foulger gene: EIF2AK3 was added
gene: EIF2AK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 16813601; 12960215; 10932183; 7551159
Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME 226980
DDG2P v0.1 EHMT1 Rebecca Foulger gene: EHMT1 was added
gene: EHMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EHMT1 were set to 19264732; 16826528
Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME 610253
DDG2P v0.1 EGR2 Rebecca Foulger gene: EGR2 was added
gene: EGR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
DDG2P v0.1 EFTUD2 Rebecca Foulger gene: EFTUD2 was added
gene: EFTUD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EFTUD2 were set to 22541558; 16760738; 19334086; 22305528; 23188108
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536
DDG2P v0.1 EFNB1 Rebecca Foulger gene: EFNB1 was added
gene: EFNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFNB1 was set to x-linked over-dominance
Publications for gene: EFNB1 were set to 16685650; 15166289; 15124102
Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME 304110
DDG2P v0.1 EEF1B2 Rebecca Foulger gene: EEF1B2 was added
gene: EEF1B2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 21937992
Phenotypes for gene: EEF1B2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 EEF1A2 Rebecca Foulger gene: EEF1A2 was added
gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF1A2 were set to 23647072
Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments
DDG2P v0.1 EED Rebecca Foulger gene: EED was added
gene: EED was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EED were set to 28475857; 27193220; 25787343; 27868325
Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome
Mode of pathogenicity for gene: EED was set to Other - please provide details in the comments
DDG2P v0.1 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EDNRB were set to 7778600
Phenotypes for gene: EDNRB were set to ABCD SYNDROME 600501
DDG2P v0.1 EDNRA Rebecca Foulger gene: EDNRA was added
gene: EDNRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EDNRA were set to 25772936
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Mode of pathogenicity for gene: EDNRA was set to Other - please provide details in the comments
DDG2P v0.1 EDN1 Rebecca Foulger Added phenotypes AURICULOCONDYLAR SYNDROME 602483 for gene: EDN1
DDG2P v0.1 EDN1 Rebecca Foulger gene: EDN1 was added
gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN1 were set to 24268655
Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483
DDG2P v0.1 EDAR Rebecca Foulger gene: EDAR was added
gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDAR was set to
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v0.1 EDA Rebecca Foulger Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 for gene: EDA
Publications for gene EDA were changed from 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260 to 18657636; 17256800; 16583127
DDG2P v0.1 EDA Rebecca Foulger gene: EDA was added
gene: EDA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EDA were set to 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 305100
DDG2P v0.1 ECEL1 Rebecca Foulger gene: ECEL1 was added
gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECEL1 were set to 23261301
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065
DDG2P v0.1 EBP Rebecca Foulger gene: EBP was added
gene: EBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EBP 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: EBP were set to 10942423; 10391218; 10391219; 11038443; 12503101
Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960
DDG2P v0.1 EBF3 Rebecca Foulger gene: EBF3 was added
gene: EBF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EBF3 were set to 28017370; 28017372; 28017373
Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism
DDG2P v0.1 DYRK1A Rebecca Foulger gene: DYRK1A was added
gene: DYRK1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
DDG2P v0.1 DYNC2H1 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 for gene: DYNC2H1
Publications for gene DYNC2H1 were changed from 19442771 to 19442771; 19361615
DDG2P v0.1 DYNC2H1 Rebecca Foulger gene: DYNC2H1 was added
gene: DYNC2H1 was added to DDG2P. Sources:
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 19442771
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091
DDG2P v0.1 DYNC1H1 Rebecca Foulger Added phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 for gene: DYNC1H1
DDG2P v0.1 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 22459677
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600
Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments
DDG2P v0.1 DYM Rebecca Foulger Added phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800 for gene: DYM
Publications for gene DYM were changed from 19005420; 12491225 to 12554689; 12491225; 16097008
DDG2P v0.1 DYM Rebecca Foulger gene: DYM was added
gene: DYM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYM were set to 19005420; 12491225
Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA 607326
DDG2P v0.1 DVL3 Rebecca Foulger gene: DVL3 was added
gene: DVL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DVL3 were set to 26924530
Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Mode of pathogenicity for gene: DVL3 was set to Other - please provide details in the comments
DDG2P v0.1 DVL1 Rebecca Foulger gene: DVL1 was added
gene: DVL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DVL1 were set to 25817016
Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Mode of pathogenicity for gene: DVL1 was set to Other - please provide details in the comments
DDG2P v0.1 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSTYK were set to 23862974
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
DDG2P v0.1 DSPP Rebecca Foulger Added phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490 for gene: DSPP
Publications for gene DSPP were changed from 11175790 to 18456718; 11175790; 14758537; 11175779
DDG2P v0.1 DSPP Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 for gene: DSPP
DDG2P v0.1 DSPP Rebecca Foulger gene: DSPP was added
gene: DSPP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSPP were set to 11175790
Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594
DDG2P v0.1 DSG1 Rebecca Foulger gene: DSG1 was added
gene: DSG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 23974871
Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
DDG2P v0.1 DSE Rebecca Foulger gene: DSE was added
gene: DSE was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 23704329
Phenotypes for gene: DSE were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539
Mode of pathogenicity for gene: DSE was set to Other - please provide details in the comments
DDG2P v0.1 DRC1 Rebecca Foulger gene: DRC1 was added
gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRC1 were set to 23354437
Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400
DDG2P v0.1 DPM3 Rebecca Foulger gene: DPM3 was added
gene: DPM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565
Phenotypes for gene: DPM3 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
DDG2P v0.1 DPM1 Rebecca Foulger gene: DPM1 was added
gene: DPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 10642602; 10642597
Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
DDG2P v0.1 DPF2 Rebecca Foulger gene: DPF2 was added
gene: DPF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DPF2 were set to 29429572
Phenotypes for gene: DPF2 were set to Coffin Siris like disorder
Mode of pathogenicity for gene: DPF2 was set to Other - please provide details in the comments
DDG2P v0.1 DPAGT1 Rebecca Foulger Added phenotypes DPAGT1-CDG 300129 for gene: DPAGT1
DDG2P v0.1 DPAGT1 Rebecca Foulger gene: DPAGT1 was added
gene: DPAGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 22742743
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750
DDG2P v0.1 DOLK Rebecca Foulger gene: DOLK was added
gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 17273964; 22242004
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments
DDG2P v0.1 DOCK8 Rebecca Foulger gene: DOCK8 was added
gene: DOCK8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK8 were set to 19776401
Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700
DDG2P v0.1 DOCK7 Rebecca Foulger gene: DOCK7 was added
gene: DOCK7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK7 were set to 24814191
Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859
DDG2P v0.1 DOCK6 Rebecca Foulger gene: DOCK6 was added
gene: DOCK6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK6 were set to 21820096
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 614219
DDG2P v0.1 DNMT3B Rebecca Foulger gene: DNMT3B was added
gene: DNMT3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 12239717; 10555141; 10647011
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
DDG2P v0.1 DNMT3A Rebecca Foulger gene: DNMT3A was added
gene: DNMT3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT3A were set to 24614070
Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879
DDG2P v0.1 DNM1 Rebecca Foulger gene: DNM1 was added
gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments
DDG2P v0.1 DNAJC12 Rebecca Foulger gene: DNAJC12 was added
gene: DNAJC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability
DDG2P v0.1 DNAJB13 Rebecca Foulger gene: DNAJB13 was added
gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to 27486783
Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility
DDG2P v0.1 DNAH5 Rebecca Foulger gene: DNAH5 was added
gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH5 were set to 27637300
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3
DDG2P v0.1 DNAAF5 Rebecca Foulger gene: DNAAF5 was added
gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF5 were set to 23040496
Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874
Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments
DDG2P v0.1 DNAAF4 Rebecca Foulger gene: DNAAF4 was added
gene: DNAAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF4 were set to 23872636
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
DDG2P v0.1 DNAAF3 Rebecca Foulger gene: DNAAF3 was added
gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF3 were set to 10745040; 22387996
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763
DDG2P v0.1 DNA2 Rebecca Foulger gene: DNA2 was added
gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050
Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807
DDG2P v0.1 DMPK Rebecca Foulger gene: DMPK was added
gene: DMPK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1 160900
Mode of pathogenicity for gene: DMPK was set to Other - please provide details in the comments
DDG2P v0.1 DMP1 Rebecca Foulger gene: DMP1 was added
gene: DMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 17033625; 17033621
Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR 241520
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 for gene: DMD
Publications for gene DMD were changed from 8789442; 8361506; 9683584; 9170407 to 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 for gene: DMD
Publications for gene DMD were changed from 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 to 8789442; 8361506; 9683584; 9170407
DDG2P v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470
Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376
DDG2P v0.1 DLX5 Rebecca Foulger gene: DLX5 was added
gene: DLX5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX5 were set to 22121204
Phenotypes for gene: DLX5 were set to SPLIT HAND AND FOOT MALFORMATION 220600
Mode of pathogenicity for gene: DLX5 was set to Other - please provide details in the comments
DDG2P v0.1 DLL4 Rebecca Foulger gene: DLL4 was added
gene: DLL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL4 were set to 26299364
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 616589
DDG2P v0.1 DLL3 Rebecca Foulger gene: DLL3 was added
gene: DLL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLL3 were set to 10742114; 2805381; 12791036
Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300
DDG2P v0.1 DLG4 Rebecca Foulger gene: DLG4 was added
gene: DLG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG4 were set to 27479843
Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability
DDG2P v0.1 DLG3 Rebecca Foulger gene: DLG3 was added
gene: DLG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 300189
DDG2P v0.1 DLD Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: DLD
DDG2P v0.1 DLD Rebecca Foulger gene: DLD was added
gene: DLD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600
DDG2P v0.1 DLAT Rebecca Foulger gene: DLAT was added
gene: DLAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
DDG2P v0.1 DKC1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1
DDG2P v0.1 DKC1 Rebecca Foulger gene: DKC1 was added
gene: DKC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
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 DKC1-RELATED DYSKERATOSIS CONGENITA 314912
DDG2P v0.1 DIS3L2 Rebecca Foulger gene: DIS3L2 was added
gene: DIS3L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 22306653; 6093533; 10508986
Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME 267000
DDG2P v0.1 DIP2B Rebecca Foulger gene: DIP2B was added
gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DIP2B were set to 17236128
Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630
Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments
DDG2P v0.1 DHX30 Rebecca Foulger gene: DHX30 was added
gene: DHX30 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX30 were set to 29100085
Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder
Mode of pathogenicity for gene: DHX30 was set to Other - please provide details in the comments
DDG2P v0.1 DHTKD1 Rebecca Foulger gene: DHTKD1 was added
gene: DHTKD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 23141293
Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
DDG2P v0.1 DHRS3 Rebecca Foulger gene: DHRS3 was added
gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis
Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments
DDG2P v0.1 DHODH Rebecca Foulger gene: DHODH was added
gene: DHODH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 19915526
Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
DDG2P v0.1 DHFR Rebecca Foulger gene: DHFR was added
gene: DHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310277; 21310276
Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839
Mode of pathogenicity for gene: DHFR was set to Other - please provide details in the comments
DDG2P v0.1 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: DHDDS was set to Other - please provide details in the comments
DDG2P v0.1 DHCR7 Rebecca Foulger gene: DHCR7 was added
gene: DHCR7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME 270400
DDG2P v0.1 DHCR24 Rebecca Foulger gene: DHCR24 was added
gene: DHCR24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS 238860
DDG2P v0.1 DGAT1 Rebecca Foulger gene: DGAT1 was added
gene: DGAT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGAT1 were set to 23114594
Phenotypes for gene: DGAT1 were set to CONGENITAL DIARRHEAL DISORDERS
DDG2P v0.1 DEPDC5 Rebecca Foulger gene: DEPDC5 was added
gene: DEPDC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEPDC5 were set to 9851433; 14510823; 23542701; 15329069; 10825362; 10577924
Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364
DDG2P v0.1 DENND5A Rebecca Foulger gene: DENND5A was added
gene: DENND5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27866705
Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 DEAF1 Rebecca Foulger Added phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy for gene: DEAF1
Publications for gene DEAF1 were changed from 24726472; 21076407 to 26834045; 26048982
DDG2P v0.1 DEAF1 Rebecca Foulger gene: DEAF1 was added
gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEAF1 were set to 24726472; 21076407
Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments
DDG2P v0.1 DDX6 Rebecca Foulger gene: DDX6 was added
gene: DDX6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: DDX6 was set to Other - please provide details in the comments
DDG2P v0.1 DDX59 Rebecca Foulger gene: DDX59 was added
gene: DDX59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 23972372
Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME
Mode of pathogenicity for gene: DDX59 was set to Other - please provide details in the comments
DDG2P v0.1 DDX58 Rebecca Foulger gene: DDX58 was added
gene: DDX58 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX58 were set to 25620203
Phenotypes for gene: DDX58 were set to SINGLETON-MERTEN SYNDROME 182250
Mode of pathogenicity for gene: DDX58 was set to Other - please provide details in the comments
DDG2P v0.1 DDX3X Rebecca Foulger Added phenotypes INTELLECTUAL DIABILITY for gene: DDX3X
DDG2P v0.1 DDX3X Rebecca Foulger gene: DDX3X was added
gene: DDX3X was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX3X 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: DDX3X were set to 25533962
Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY
DDG2P v0.1 DDX11 Rebecca Foulger gene: DDX11 was added
gene: DDX11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX11 were set to 23033317; 20137776
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME 613398
DDG2P v0.1 DDR2 Rebecca Foulger gene: DDR2 was added
gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDR2 were set to 19110212; 8434618
Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments
DDG2P v0.1 DDOST Rebecca Foulger gene: DDOST was added
gene: DDOST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDOST were set to 22305527
Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507
DDG2P v0.1 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23176823
Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033
DDG2P v0.1 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 15786464; 23176821
Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 20505134
Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
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 DCX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 1 300067 for gene: DCX
DDG2P v0.1 DCX Rebecca Foulger gene: DCX was added
gene: DCX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DCX 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: DCX were set to 11468322; 12552055; 10441340; 9489699; 9489700
Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067
DDG2P v0.1 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCHS1 were set to 24056717
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
DDG2P v0.1 DCDC2 Rebecca Foulger gene: DCDC2 was added
gene: DCDC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25557784
Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY 616217
DDG2P v0.1 DCC Rebecca Foulger gene: DCC was added
gene: DCC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
DDG2P v0.1 DCAF17 Rebecca Foulger gene: DCAF17 was added
gene: DCAF17 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to WOODHOUSE-SAKATI SYNDROME 241080
DDG2P v0.1 DBT Rebecca Foulger gene: DBT was added
gene: DBT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ 248600
DDG2P v0.1 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 17384640
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
DDG2P v0.1 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments
DDG2P v0.1 DAG1 Rebecca Foulger gene: DAG1 was added
gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 21388311
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments
DDG2P v0.1 D2HGDH Rebecca Foulger gene: D2HGDH was added
gene: D2HGDH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 15609246
Phenotypes for gene: D2HGDH were set to D-2-HYDROXYGLUTARIC ACIDURIA 1 600721
DDG2P v0.1 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 CYP24A1 Rebecca Foulger gene: CYP24A1 was added
gene: CYP24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 27394135
Phenotypes for gene: CYP24A1 were set to Hereditary 1,25-dihydroxyvitamin D-resistant rickets
DDG2P v0.1 CYP1B1 Rebecca Foulger gene: CYP1B1 was added
gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments
DDG2P v0.1 CYC1 Rebecca Foulger gene: CYC1 was added
gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYC1 were set to 23910460
Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453
Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments
DDG2P v0.1 CYB5R3 Rebecca Foulger gene: CYB5R3 was added
gene: CYB5R3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395
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 CUX2 Rebecca Foulger gene: CUX2 was added
gene: CUX2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX2 were set to 29630738
Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy
Mode of pathogenicity for gene: CUX2 was set to Other - please provide details in the comments
DDG2P v0.1 CUL7 Rebecca Foulger gene: CUL7 was added
gene: CUL7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUL7 were set to 17675530; 16142236; 19225462
Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1 273750
DDG2P v0.1 CUL4B Rebecca Foulger gene: CUL4B was added
gene: CUL4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 17236139
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354
DDG2P v0.1 CUL3 Rebecca Foulger gene: CUL3 was added
gene: CUL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CUL3 was set to
Publications for gene: CUL3 were set to 27824329
Phenotypes for gene: CUL3 were set to CUL3 associated autism spectrum disorder
DDG2P v0.1 CTSK Rebecca Foulger gene: CTSK was added
gene: CTSK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 10878663; 8703060; 10491211
Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS 265800
DDG2P v0.1 CTSD Rebecca Foulger gene: CTSD was added
gene: CTSD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSD were set to 16670177; 16685649
Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127
DDG2P v0.1 CTSA Rebecca Foulger gene: CTSA was added
gene: CTSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 8968752; 10944848; 8514852; 9603439; 1756715
Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS 256540
DDG2P v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 for gene: CTNS
Publications for gene CTNS were changed from 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 to 19863563; 10556299; 10444339
DDG2P v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS NEPHROPATHIC TYPE 219800 for gene: CTNS
Publications for gene CTNS were changed from 10625078; 11505338 to 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275
DDG2P v0.1 CTNS Rebecca Foulger gene: CTNS was added
gene: CTNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 10625078; 11505338
Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750
DDG2P v0.1 CTNND1 Rebecca Foulger gene: CTNND1 was added
gene: CTNND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 100000; 29348693; 28301459
Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome
DDG2P v0.1 CTNNB1 Rebecca Foulger gene: CTNNB1 was added
gene: CTNNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
DDG2P v0.1 CTNNA2 Rebecca Foulger gene: CTNNA2 was added
gene: CTNNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Disordered cortical neuronal migration
DDG2P v0.1 CTDP1 Rebecca Foulger gene: CTDP1 was added
gene: CTDP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 14517542
Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
DDG2P v0.1 CTCF Rebecca Foulger gene: CTCF was added
gene: CTCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTCF were set to 23746550
Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CTC1 Rebecca Foulger gene: CTC1 was added
gene: CTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198; 22387016
Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
DDG2P v0.1 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 9012407; 15329070; 9342192; 8596935
Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE 254800
DDG2P v0.1 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 21944047
Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936
DDG2P v0.1 CSPP1 Rebecca Foulger gene: CSPP1 was added
gene: CSPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360808
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
DDG2P v0.1 CSNK2A1 Rebecca Foulger gene: CSNK2A1 was added
gene: CSNK2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome
Mode of pathogenicity for gene: CSNK2A1 was set to Other - please provide details in the comments
DDG2P v0.1 CSNK1G1 Rebecca Foulger gene: CSNK1G1 was added
gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSNK1G1 were set to 24463883
Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 608983 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 for gene: CRYGD
Publications for gene CRYGD were changed from 17564961; 12011157; 10915766; 10521291; 9927684 to 9927684
DDG2P v0.1 CRYGD Rebecca Foulger gene: CRYGD was added
gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684
Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v0.1 CRYGC Rebecca Foulger Added phenotypes CATARACT COPPOCK-LIKE 604307 for gene: CRYGC
Publications for gene CRYGC were changed from to 12011157; 10521291; 10914683
DDG2P v0.1 CRYGC Rebecca Foulger gene: CRYGC was added
gene: CRYGC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT 604219
DDG2P v0.1 CRYBB3 Rebecca Foulger gene: CRYBB3 was added
gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRYBB3 were set to 15914629
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741
Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBB2 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2
Publications for gene CRYBB2 were changed from to 11424921; 8812489
DDG2P v0.1 CRYBB2 Rebecca Foulger gene: CRYBB2 was added
gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307
DDG2P v0.1 CRYBB1 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 for gene: CRYBB1
DDG2P v0.1 CRYBB1 Rebecca Foulger gene: CRYBB1 was added
gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were set to 12360425; 17460281
Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544
DDG2P v0.1 CRYBA4 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 for gene: CRYBA4
Publications for gene CRYBA4 were changed from 16960806; 15452067 to 16960806
DDG2P v0.1 CRYBA4 Rebecca Foulger gene: CRYBA4 was added
gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA4 were set to 16960806; 15452067
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425
Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBA1 Rebecca Foulger gene: CRYBA1 was added
gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA1 were set to 14598164
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881
DDG2P v0.1 CRYAB Rebecca Foulger Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB
Publications for gene CRYAB were changed from 11577372 to 21337604
DDG2P v0.1 CRYAB Rebecca Foulger gene: CRYAB was added
gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAB were set to 11577372
Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763
DDG2P v0.1 CRYAA Rebecca Foulger Added phenotypes CATARACT, NUCLEAR 123580 for gene: CRYAA
Publications for gene CRYAA were changed from 11006246 to 19182255
DDG2P v0.1 CRYAA Rebecca Foulger gene: CRYAA was added
gene: CRYAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAA were set to 11006246
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580
DDG2P v0.1 CRX Rebecca Foulger gene: CRX was added
gene: CRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829
DDG2P v0.1 CRKL Rebecca Foulger gene: CRKL was added
gene: CRKL was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRKL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRKL were set to Bladder exstrophy plus
Mode of pathogenicity for gene: CRKL was set to Other - please provide details in the comments
DDG2P v0.1 CRIPT Rebecca Foulger gene: CRIPT was added
gene: CRIPT was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to 24389050
Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789
DDG2P v0.1 CRIM1 Rebecca Foulger gene: CRIM1 was added
gene: CRIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIM1 were set to 25561690
Phenotypes for gene: CRIM1 were set to Colobomatous macrophthalmia with microcornea syndrome
DDG2P v0.1 CRELD1 Rebecca Foulger gene: CRELD1 was added
gene: CRELD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME 207574
Mode of pathogenicity for gene: CRELD1 was set to Other - please provide details in the comments
DDG2P v0.1 CREBBP Rebecca Foulger Added phenotypes CREBBP intellectual disability without typical RTS features for gene: CREBBP
Publications for gene CREBBP were changed from 12114483; 12566391; 7630403; 11331617; 20684013 to 27311832
DDG2P v0.1 CREBBP Rebecca Foulger gene: CREBBP was added
gene: CREBBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 12114483; 12566391; 7630403; 11331617; 20684013
Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
DDG2P v0.1 CRBN Rebecca Foulger gene: CRBN was added
gene: CRBN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRBN were set to 18414909
Phenotypes for gene: CRBN were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417
DDG2P v0.1 CRB2 Rebecca Foulger gene: CRB2 was added
gene: CRB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
DDG2P v0.1 CRB1 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS 8 613835 for gene: CRB1
Publications for gene CRB1 were changed from 10508521; 19140180; 11389483 to 11389483; 16543197; 11231775
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 CRADD Rebecca Foulger Added phenotypes Megalencephaly with Variant Lissencephaly for gene: CRADD
Publications for gene CRADD were changed from 22279524 to 27773430
DDG2P v0.1 CRADD Rebecca Foulger gene: CRADD was added
gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRADD were set to 22279524
Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499
Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments
DDG2P v0.1 CPS1 Rebecca Foulger gene: CPS1 was added
gene: CPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 8486760; 11474210; 9711878; 17310273; 19793055
Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
DDG2P v0.1 CPAMD8 Rebecca Foulger gene: CPAMD8 was added
gene: CPAMD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 27839872
Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis
DDG2P v0.1 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX7B 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: COX7B were set to 23122588; 9747372
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
DDG2P v0.1 COX6B1 Rebecca Foulger gene: COX6B1 was added
gene: COX6B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX15 Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: COX15
DDG2P v0.1 COX15 Rebecca Foulger gene: COX15 was added
gene: COX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX14 Rebecca Foulger gene: COX14 was added
gene: COX14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX10 Rebecca Foulger Added phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 for gene: COX10
Publications for gene COX10 were changed from 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 to 18499082; 10767350; 11013136; 10647889; 10545952
DDG2P v0.1 COX10 Rebecca Foulger gene: COX10 was added
gene: COX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378
Phenotypes for gene: COX10 were set to LEIGH SYNDROME 256000
Mode of pathogenicity for gene: COX10 was set to Other - please provide details in the comments
DDG2P v0.1 COQ9 Rebecca Foulger gene: COQ9 was added
gene: COQ9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to 19375058
Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY 607426
DDG2P v0.1 COQ8A Rebecca Foulger gene: COQ8A was added
gene: COQ8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to COENZYME Q10 DEFICIENCY 607426
DDG2P v0.1 COQ5 Rebecca Foulger gene: COQ5 was added
gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 21937992
Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments
DDG2P v0.1 COQ4 Rebecca Foulger gene: COQ4 was added
gene: COQ4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 25658047
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
DDG2P v0.1 COQ2 Rebecca Foulger gene: COQ2 was added
gene: COQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 17332895
Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY 607426
DDG2P v0.1 COMP Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 for gene: COMP
Publications for gene COMP were changed from to 9463320; 7670472; 9887340; 12483304; 9021009
DDG2P v0.1 COMP Rebecca Foulger gene: COMP was added
gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170
Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments
DDG2P v0.1 COLEC11 Rebecca Foulger gene: COLEC11 was added
gene: COLEC11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 8933348; 21258343; 2569826
Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2 265050
DDG2P v0.1 COLEC10 Rebecca Foulger gene: COLEC10 was added
gene: COLEC10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC10 were set to 28301481
Phenotypes for gene: COLEC10 were set to 3MC
DDG2P v0.1 COL9A3 Rebecca Foulger Added phenotypes Stickler syndrome for gene: COL9A3
Publications for gene COL9A3 were changed from 10655510; 15551337; 10090888 to 24273071
DDG2P v0.1 COL9A3 Rebecca Foulger gene: COL9A3 was added
gene: COL9A3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL9A3 were set to 10655510; 15551337; 10090888
Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
Mode of pathogenicity for gene: COL9A3 was set to Other - please provide details in the comments
DDG2P v0.1 COL9A2 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204 for gene: COL9A2
Publications for gene COL9A2 were changed from 21671392 to 10364514; 8528240; 12244547
DDG2P v0.1 COL9A2 Rebecca Foulger gene: COL9A2 was added
gene: COL9A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A2 were set to 21671392
Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V 614284
DDG2P v0.1 COL9A1 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 for gene: COL9A1
Publications for gene COL9A1 were changed from 16909383 to 11565064
DDG2P v0.1 COL9A1 Rebecca Foulger gene: COL9A1 was added
gene: COL9A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A1 were set to 16909383
Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4 614134
DDG2P v0.1 COL6A3 Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 for gene: COL6A3
Publications for gene COL6A3 were changed from 26004199 to 11992252
DDG2P v0.1 COL6A3 Rebecca Foulger gene: COL6A3 was added
gene: COL6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 26004199
Phenotypes for gene: COL6A3 were set to DYSTONIA 27 616411
DDG2P v0.1 COL6A1 Rebecca Foulger gene: COL6A1 was added
gene: COL6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy
Mode of pathogenicity for gene: COL6A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL4A4 Rebecca Foulger gene: COL4A4 was added
gene: COL4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
DDG2P v0.1 COL4A3BP Rebecca Foulger gene: COL4A3BP was added
gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A3BP were set to 25533962
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments
DDG2P v0.1 COL4A3 Rebecca Foulger Added phenotypes ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 for gene: COL4A3
Publications for gene COL4A3 were changed from 7633417; 7987396; 7987301; 9792860 to 11134255; 9269635
DDG2P v0.1 COL4A3 Rebecca Foulger gene: COL4A3 was added
gene: COL4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL4A3 were set to 7633417; 7987396; 7987301; 9792860
Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
DDG2P v0.1 COL4A2 Rebecca Foulger gene: COL4A2 was added
gene: COL4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2 614483
Mode of pathogenicity for gene: COL4A2 was set to Other - please provide details in the comments
DDG2P v0.1 COL4A1 Rebecca Foulger gene: COL4A1 was added
gene: COL4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 175780
Mode of pathogenicity for gene: COL4A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 for gene: COL2A1
Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8325895; 2339128; 8423604; 2543071
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 for gene: COL2A1
Publications for gene COL2A1 were changed from 7550321; 8486375; 16088915 to 16752401; 17721977; 15671297
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 for gene: COL2A1
Publications for gene COL2A1 were changed from 21671384; 15930420 to 7550321; 8486375; 16088915
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1
Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOPERIPHERAL DYSPLASIA 271700 for gene: COL2A1
Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8723097; 15316962
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1
Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 for gene: COL2A1
Publications for gene COL2A1 were changed from 1429602; 15054848; 1374906; 7829510; 3195588; 7757081 to 14729840
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes ACHONDROGENESIS TYPE 2 200610 for gene: COL2A1
Publications for gene COL2A1 were changed from 7874117; 7849719; 7981752 to 1429602; 15054848; 1374906; 7829510; 3195588; 7757081
DDG2P v0.1 COL2A1 Rebecca Foulger gene: COL2A1 was added
gene: COL2A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL2A1 were set to 7874117; 7849719; 7981752
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA 156550
DDG2P v0.1 COL25A1 Rebecca Foulger gene: COL25A1 was added
gene: COL25A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 25500261
Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 for gene: COL1A1
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE IIA 166210 for gene: COL1A1
Publications for gene COL1A1 were changed from 15864348 to 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes CAFFEY DISEASE 114000 for gene: COL1A1
Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 15864348
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 for gene: COL1A1
Publications for gene COL1A1 were changed from 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493 to 3082886; 18409203; 9295084
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE III 259420 for gene: COL1A1
Publications for gene COL1A1 were changed from 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225 to 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE I 166200 for gene: COL1A1
Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME TYPE VIIA 319158 for gene: COL1A1
DDG2P v0.1 COL1A1 Rebecca Foulger gene: COL1A1 was added
gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084
Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158
Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL18A1 Rebecca Foulger gene: COL18A1 was added
gene: COL18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL18A1 were set to 10942434
Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I 315926
DDG2P v0.1 COL13A1 Rebecca Foulger gene: COL13A1 was added
gene: COL13A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL13A1 were set to 26626625
Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 277610 for gene: COL11A2
Publications for gene COL11A2 were changed from 15372529; 9506662; 7833911 to 15558753; 14234962
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 3 184840 for gene: COL11A2
Publications for gene COL11A2 were changed from 16033917 to 15372529; 9506662; 7833911
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 for gene: COL11A2
Publications for gene COL11A2 were changed from 10581026 to 16033917
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 for gene: COL11A2
Publications for gene COL11A2 were changed from 10677296; 7859284; 16637051; 16189708 to 10581026
DDG2P v0.1 COL11A2 Rebecca Foulger gene: COL11A2 was added
gene: COL11A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL11A2 were set to 10677296; 7859284; 16637051; 16189708
Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
Mode of pathogenicity for gene: COL11A2 was set to Other - please provide details in the comments
DDG2P v0.1 COL11A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME, TYPE II 604841 for gene: COL11A1
Publications for gene COL11A1 were changed from 21035103 to 10573014; 8872475
DDG2P v0.1 COL11A1 Rebecca Foulger gene: COL11A1 was added
gene: COL11A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL11A1 were set to 21035103
Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS 228520
DDG2P v0.1 COL10A1 Rebecca Foulger gene: COL10A1 was added
gene: COL10A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL10A1 were set to 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716
Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Mode of pathogenicity for gene: COL10A1 was set to Other - please provide details in the comments
DDG2P v0.1 COG8 Rebecca Foulger gene: COG8 was added
gene: COG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG8 were set to COG8-CDG 300204
DDG2P v0.1 COG7 Rebecca Foulger gene: COG7 was added
gene: COG7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to COG7-CDG 300171
DDG2P v0.1 COG5 Rebecca Foulger gene: COG5 was added
gene: COG5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG5 were set to COG5-CDG 319494
DDG2P v0.1 COG4 Rebecca Foulger gene: COG4 was added
gene: COG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to COG4-CDG 319493
DDG2P v0.1 COG1 Rebecca Foulger gene: COG1 was added
gene: COG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to COG1-CDG 300197
DDG2P v0.1 COASY Rebecca Foulger gene: COASY was added
gene: COASY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804
Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
DDG2P v0.1 COA5 Rebecca Foulger gene: COA5 was added
gene: COA5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 CNTNAP2 Rebecca Foulger gene: CNTNAP2 was added
gene: CNTNAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP2 were set to 19896112; 16571880; 11568923
Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
DDG2P v0.1 CNTNAP1 Rebecca Foulger gene: CNTNAP1 was added
gene: CNTNAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP1 were set to 24319099
Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
DDG2P v0.1 CNOT3 Rebecca Foulger gene: CNOT3 was added
gene: CNOT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNOT3 were set to CNOT3 syndrome
DDG2P v0.1 CNKSR2 Rebecca Foulger gene: CNKSR2 was added
gene: CNKSR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CNKSR2 were set to 22511892; 25644381
Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY
DDG2P v0.1 CNKSR1 Rebecca Foulger gene: CNKSR1 was added
gene: CNKSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 21937992
Phenotypes for gene: CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CLTC Rebecca Foulger Added phenotypes Epilepsy and intellectual disability for gene: CLTC
Publications for gene CLTC were changed from 26822784 to 29100083
DDG2P v0.1 CLTC Rebecca Foulger gene: CLTC was added
gene: CLTC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLTC were set to 26822784
Phenotypes for gene: CLTC were set to Overgrowth intellectual disability
DDG2P v0.1 CLPP Rebecca Foulger gene: CLPP was added
gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340
Phenotypes for gene: CLPP were set to PERRAULT SYNDROME
Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments
DDG2P v0.1 CLPB Rebecca Foulger gene: CLPB was added
gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 25597510
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
DDG2P v0.1 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803
Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments
DDG2P v0.1 CLN8 Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 for gene: CLN8
Publications for gene CLN8 were changed from 16570191; 19431184 to 10508524
DDG2P v0.1 CLN8 Rebecca Foulger gene: CLN8 was added
gene: CLN8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN8 were set to 16570191; 19431184
Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
DDG2P v0.1 CLN6 Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300 for gene: CLN6
DDG2P v0.1 CLN6 Rebecca Foulger gene: CLN6 was added
gene: CLN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
DDG2P v0.1 CLN5 Rebecca Foulger gene: CLN5 was added
gene: CLN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN5 were set to 18684116; 20157158; 15728307; 9662406
Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731
DDG2P v0.1 CLN3 Rebecca Foulger gene: CLN3 was added
gene: CLN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN3 were set to 7887420; 7553855; 19489875; 9450775
Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
DDG2P v0.1 CLMP Rebecca Foulger gene: CLMP was added
gene: CLMP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to 22155368
Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME 615237
DDG2P v0.1 CLIC2 Rebecca Foulger gene: CLIC2 was added
gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLIC2 were set to 22814392
Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32
Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments
DDG2P v0.1 CLDN19 Rebecca Foulger gene: CLDN19 was added
gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments
DDG2P v0.1 CLCNKB Rebecca Foulger gene: CLCNKB was added
gene: CLCNKB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 15044642; 18310267
Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CLCNKA Rebecca Foulger gene: CLCNKA was added
gene: CLCNKA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKA were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CLCN7 Rebecca Foulger gene: CLCN7 was added
gene: CLCN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN7 were set to 17033731; 11207362; 11741829
Phenotypes for gene: CLCN7 were set to CLCN7-RELATED OSTEOPETROSIS 611490
DDG2P v0.1 CLCN4 Rebecca Foulger gene: CLCN4 was added
gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN4 were set to 23647072; 25644381
Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments
DDG2P v0.1 CKAP2L Rebecca Foulger gene: CKAP2L was added
gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
DDG2P v0.1 CIT Rebecca Foulger gene: CIT was added
gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIT were set to 27453578
Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments
DDG2P v0.1 CISD2 Rebecca Foulger gene: CISD2 was added
gene: CISD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 604928
DDG2P v0.1 CIC Rebecca Foulger gene: CIC was added
gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082
Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments
DDG2P v0.1 CIB2 Rebecca Foulger Added phenotypes NONSYNDROMIC DEAFNESS DFNB48 609439 for gene: CIB2
Publications for gene CIB2 were changed from 23023331; 18505454 to 23023331
DDG2P v0.1 CIB2 Rebecca Foulger gene: CIB2 was added
gene: CIB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 23023331; 18505454
Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J 614869
DDG2P v0.1 CHUK Rebecca Foulger gene: CHUK was added
gene: CHUK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to 20961246
Phenotypes for gene: CHUK were set to COCOON SYNDROME 613630
DDG2P v0.1 CHSY1 Rebecca Foulger gene: CHSY1 was added
gene: CHSY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 9823490; 19952732; 21129727; 21129728
Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
DDG2P v0.1 CHST3 Rebecca Foulger gene: CHST3 was added
gene: CHST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 19320654; 15098240; 18698629; 18513679; 112567; 20830804
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
DDG2P v0.1 CHST14 Rebecca Foulger gene: CHST14 was added
gene: CHST14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
DDG2P v0.1 CHRNG Rebecca Foulger gene: CHRNG was added
gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 16826520
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
DDG2P v0.1 CHRNB2 Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNB2
Publications for gene CHRNB2 were changed from to 11062464
DDG2P v0.1 CHRNB2 Rebecca Foulger gene: CHRNB2 was added
gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375
Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA4 Rebecca Foulger gene: CHRNA4 was added
gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRNA4 were set to 7647781
Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA2 Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNA2
DDG2P v0.1 CHRNA2 Rebecca Foulger gene: CHRNA2 was added
gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607
Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA1 Rebecca Foulger gene: CHRNA1 was added
gene: CHRNA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
DDG2P v0.1 CHRDL1 Rebecca Foulger gene: CHRDL1 was added
gene: CHRDL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHRDL1 were set to 22284829
Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED 309300
DDG2P v0.1 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333
Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
DDG2P v0.1 CHM Rebecca Foulger gene: CHM was added
gene: CHM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHM were set to 7981670; 1598901; 1302003; 8477262; 12827496; 21905166
Phenotypes for gene: CHM were set to CHOROIDEREMIA 303100
DDG2P v0.1 CHD8 Rebecca Foulger gene: CHD8 was added
gene: CHD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD8 were set to 23160955
Phenotypes for gene: CHD8 were set to AUTISM 209850
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes CHARGE SYNDROME 214800 for gene: CHD7
Publications for gene CHD7 were changed from 18834967 to 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: CHD7
DDG2P v0.1 CHD7 Rebecca Foulger gene: CHD7 was added
gene: CHD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 18834967
Phenotypes for gene: CHD7 were set to KALLMANN SYNDROME TYPE 5 612370
DDG2P v0.1 CHD4 Rebecca Foulger gene: CHD4 was added
gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD4 were set to 27616479; 27479907
Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v0.1 CHD3 Rebecca Foulger gene: CHD3 was added
gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD3 were set to Apraxia of speech
Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments
DDG2P v0.1 CHD2 Rebecca Foulger gene: CHD2 was added
gene: CHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD2 were set to 23708187
Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 CHAMP1 Rebecca Foulger gene: CHAMP1 was added
gene: CHAMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHAMP1 were set to 26340335
Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CFL2 Rebecca Foulger gene: CFL2 was added
gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to 17160903
Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687
Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments
DDG2P v0.1 CFC1 Rebecca Foulger gene: CFC1 was added
gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
DDG2P v0.1 CEP83 Rebecca Foulger gene: CEP83 was added
gene: CEP83 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
DDG2P v0.1 CEP63 Rebecca Foulger gene: CEP63 was added
gene: CEP63 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP63 were set to 21983783
Phenotypes for gene: CEP63 were set to SECKEL SYNDROME 6 614728
DDG2P v0.1 CEP57 Rebecca Foulger gene: CEP57 was added
gene: CEP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 21552266; 12116237
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
DDG2P v0.1 CEP41 Rebecca Foulger gene: CEP41 was added
gene: CEP41 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP41 were set to 22246503
Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15 614464
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 4 611134 for gene: CEP290
Publications for gene CEP290 were changed from 16682970; 16682973; 17564967 to 17705300; 17564974
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 5 610188 for gene: CEP290
Publications for gene CEP290 were changed from 16909394; 17554762 to 16682970; 16682973; 17564967
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS TYPE 10 611755 for gene: CEP290
Publications for gene CEP290 were changed from 16682973 to 16909394; 17554762
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes SENIOR-LOKEN SYNDROME TYPE 6 610189 for gene: CEP290
Publications for gene CEP290 were changed from to 16682973
DDG2P v0.1 CEP290 Rebecca Foulger gene: CEP290 was added
gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900
DDG2P v0.1 CEP152 Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 5 613823 for gene: CEP152
Publications for gene CEP152 were changed from to 21131973
DDG2P v0.1 CEP152 Rebecca Foulger gene: CEP152 was added
gene: CEP152 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 604321
DDG2P v0.1 CEP135 Rebecca Foulger gene: CEP135 was added
gene: CEP135 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP135 were set to 22521416
Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
DDG2P v0.1 CEP104 Rebecca Foulger gene: CEP104 was added
gene: CEP104 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 CENPJ Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 4 613676 for gene: CENPJ
Publications for gene CENPJ were changed from 15793586; 16900296; 20978018; 12843329 to 20522431
DDG2P v0.1 CENPJ Rebecca Foulger gene: CENPJ was added
gene: CENPJ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 15793586; 16900296; 20978018; 12843329
Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 608393
DDG2P v0.1 CENPF Rebecca Foulger gene: CENPF was added
gene: CENPF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 27300082; 26820108; 28407396
Phenotypes for gene: CENPF were set to Stromme syndrome
DDG2P v0.1 CDT1 Rebecca Foulger gene: CDT1 was added
gene: CDT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 11992493; 21358632
Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4 613804
DDG2P v0.1 CDON Rebecca Foulger gene: CDON was added
gene: CDON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 614226
Mode of pathogenicity for gene: CDON was set to Other - please provide details in the comments
DDG2P v0.1 CDKN1C Rebecca Foulger Added phenotypes IMAGe Syndrome for gene: CDKN1C
Publications for gene CDKN1C were changed from 8841187; 9341892; 14997421; 20503313 to 22634751
DDG2P v0.1 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 8841187; 9341892; 14997421; 20503313
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME 130650
DDG2P v0.1 CDKL5 Rebecca Foulger gene: CDKL5 was added
gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKL5 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: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
DDG2P v0.1 CDK5RAP2 Rebecca Foulger gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 CDK16 Rebecca Foulger gene: CDK16 was added
gene: CDK16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381
Phenotypes for gene: CDK16 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CDK13 Rebecca Foulger gene: CDK13 was added
gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK13 were set to 27479907
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments
DDG2P v0.1 CDK10 Rebecca Foulger gene: CDK10 was added
gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 29130579; 28886341
Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays
DDG2P v0.1 CDH3 Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 for gene: CDH3
Publications for gene CDH3 were changed from 15805154 to 11544476; 12445216
DDG2P v0.1 CDH3 Rebecca Foulger gene: CDH3 was added
gene: CDH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 15805154
Phenotypes for gene: CDH3 were set to EEM SYNDROME 280238
DDG2P v0.1 CDH23 Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1D 601067 for gene: CDH23
Publications for gene CDH23 were changed from 12075507; 15829536; 11090341; 17850630 to 11090341; 15537665; 21228398; 11138009
DDG2P v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH23 were set to 12075507; 15829536; 11090341; 17850630
Phenotypes for gene: CDH23 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
DDG2P v0.1 CDH15 Rebecca Foulger gene: CDH15 was added
gene: CDH15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDH15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH15 were set to 19012874; 26506440
Phenotypes for gene: CDH15 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580
DDG2P v0.1 CDH1 Rebecca Foulger gene: CDH1 was added
gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 100000
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments
DDG2P v0.1 CDC6 Rebecca Foulger gene: CDC6 was added
gene: CDC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC6 were set to 11477602
Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5 613805
DDG2P v0.1 CDC45 Rebecca Foulger gene: CDC45 was added
gene: CDC45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis
DDG2P v0.1 CD96 Rebecca Foulger gene: CD96 was added
gene: CD96 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CD96 were set to 17847009
Phenotypes for gene: CD96 were set to C SYNDROME 211750
DDG2P v0.1 CD151 Rebecca Foulger gene: CD151 was added
gene: CD151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795
Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
DDG2P v0.1 CCNO Rebecca Foulger gene: CCNO was added
gene: CCNO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNO were set to 24747639
Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 615872
DDG2P v0.1 CCND2 Rebecca Foulger gene: CCND2 was added
gene: CCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Mode of pathogenicity for gene: CCND2 was set to Other - please provide details in the comments
DDG2P v0.1 CCNA2 Rebecca Foulger gene: CCNA2 was added
gene: CCNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNA2 were set to 21937992
Phenotypes for gene: CCNA2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88C were set to 23042809
Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
DDG2P v0.1 CCDC88A Rebecca Foulger gene: CCDC88A was added
gene: CCDC88A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC88A was set to
Publications for gene: CCDC88A were set to 26917597
Phenotypes for gene: CCDC88A were set to PEHO-like syndrome
DDG2P v0.1 CCDC8 Rebecca Foulger gene: CCDC8 was added
gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205
DDG2P v0.1 CCDC78 Rebecca Foulger gene: CCDC78 was added
gene: CCDC78 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
DDG2P v0.1 CCDC65 Rebecca Foulger gene: CCDC65 was added
gene: CCDC65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC40 Rebecca Foulger gene: CCDC40 was added
gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC40 were set to 21131974
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808
DDG2P v0.1 CCDC39 Rebecca Foulger gene: CCDC39 was added
gene: CCDC39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC39 were set to 21131972
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 613807
DDG2P v0.1 CCDC22 Rebecca Foulger gene: CCDC22 was added
gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments
DDG2P v0.1 CCDC151 Rebecca Foulger gene: CCDC151 was added
gene: CCDC151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC151 were set to 25192045
Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA 616037
DDG2P v0.1 CCDC115 Rebecca Foulger gene: CCDC115 was added
gene: CCDC115 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis
DDG2P v0.1 CCDC114 Rebecca Foulger gene: CCDC114 was added
gene: CCDC114 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC114 were set to 23261303; 23261302
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC103 Rebecca Foulger gene: CCDC103 was added
gene: CCDC103 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC103 were set to 22581229
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCBE1 Rebecca Foulger gene: CCBE1 was added
gene: CCBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCBE1 were set to 19935664
Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
DDG2P v0.1 CC2D2A Rebecca Foulger Added phenotypes JOUBERT SYNDROME 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from 2929661; 19574260; 8862632 to 18950740; 18387594; 22246503
DDG2P v0.1 CC2D2A Rebecca Foulger Added phenotypes COACH SYNDROME 216360 for gene: CC2D2A
Publications for gene CC2D2A were changed from 18513680; 20671153 to 2929661; 19574260; 8862632
DDG2P v0.1 CC2D2A Rebecca Foulger gene: CC2D2A was added
gene: CC2D2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 18513680; 20671153
Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6 612284
DDG2P v0.1 CC2D1A Rebecca Foulger gene: CC2D1A was added
gene: CC2D1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D1A were set to 16033914
Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
DDG2P v0.1 CBS Rebecca Foulger gene: CBS was added
gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202
Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
DDG2P v0.1 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 20694012; 20619386; 20543203
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments
DDG2P v0.1 CAV1 Rebecca Foulger gene: CAV1 was added
gene: CAV1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAV1 were set to CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526
DDG2P v0.1 CASP2 Rebecca Foulger gene: CASP2 was added
gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 21937992
Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CASK Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS 300749 for gene: CASK
Publications for gene CASK were changed from 19377476; 19200522; 20029458 to 21954287; 19165920
DDG2P v0.1 CASK Rebecca Foulger Added phenotypes FG SYNDROME TYPE 4 300422 for gene: CASK
Publications for gene CASK were changed from 21954287; 19165920 to 19377476; 19200522; 20029458
DDG2P v0.1 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CASK 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: CASK were set to 21954287; 19165920
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749
DDG2P v0.1 CARS2 Rebecca Foulger gene: CARS2 was added
gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 25787132; 25361775
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
DDG2P v0.1 CAPRIN1 Rebecca Foulger gene: CAPRIN1 was added
gene: CAPRIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 23849776
Phenotypes for gene: CAPRIN1 were set to AUTISM OR INTELLECTUAL DISABILITY
DDG2P v0.1 CAPN10 Rebecca Foulger gene: CAPN10 was added
gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN10 were set to 21937992
Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMTA1 were set to 22693284
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
DDG2P v0.1 CAMK2B Rebecca Foulger gene: CAMK2B was added
gene: CAMK2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2B were set to 29100089; 29560374
Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CAMK2A Rebecca Foulger gene: CAMK2A was added
gene: CAMK2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2A were set to 29100089; 29560374
Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CAD Rebecca Foulger gene: CAD was added
gene: CAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAD was set to
Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes EPISODIC ATAXIA TYPE 5 318989 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes CACNB4-RELATED EPISODIC ATAXIA TYPE 2 279386 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger gene: CACNB4 was added
gene: CACNB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNB4 were set to JUVENILE MYOCLONIC EPILEPSY 611136
DDG2P v0.1 CACNA1H Rebecca Foulger gene: CACNA1H was added
gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942
Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1G Rebecca Foulger gene: CACNA1G was added
gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1G were set to 21937992
Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CACNA1D Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 for gene: CACNA1D
Publications for gene CACNA1D were changed from 21131953 to 23913001
DDG2P v0.1 CACNA1D Rebecca Foulger gene: CACNA1D was added
gene: CACNA1D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1D were set to 21131953
Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
DDG2P v0.1 CACNA1C Rebecca Foulger gene: CACNA1C was added
gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1C were set to 15454078
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005
Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381
Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments
DDG2P v0.1 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to 19461874; 21937992
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
DDG2P v0.1 CA5A Rebecca Foulger gene: CA5A was added
gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
DDG2P v0.1 CA2 Rebecca Foulger gene: CA2 was added
gene: CA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA2 were set to 12566520; 8127074; 5041390; 1301935
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
DDG2P v0.1 C8orf37 Rebecca Foulger gene: C8orf37 was added
gene: C8orf37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 22177090
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16 614500
DDG2P v0.1 C5orf42 Rebecca Foulger gene: C5orf42 was added
gene: C5orf42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 C4orf26 Rebecca Foulger gene: C4orf26 was added
gene: C4orf26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946
Phenotypes for gene: C4orf26 were set to AMYELOGENESIS 614832
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 C2CD3 Rebecca Foulger gene: C2CD3 was added
gene: C2CD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to 24997988
Phenotypes for gene: C2CD3 were set to OROFACIODIGITAL SYNDROME XIV 615948
DDG2P v0.1 C21orf59 Rebecca Foulger gene: C21orf59 was added
gene: C21orf59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 C21orf2 Rebecca Foulger gene: C21orf2 was added
gene: C21orf2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia
DDG2P v0.1 C1QBP Rebecca Foulger gene: C1QBP was added
gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments
DDG2P v0.1 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
DDG2P v0.1 C12orf57 Rebecca Foulger gene: C12orf57 was added
gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 23453666
Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME
Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments
DDG2P v0.1 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
DDG2P v0.1 BTD Rebecca Foulger gene: BTD was added
gene: BTD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148
Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY 253260
DDG2P v0.1 BSND Rebecca Foulger gene: BSND was added
gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 19646679; 12574213; 11687798
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522
DDG2P v0.1 BRWD3 Rebecca Foulger gene: BRWD3 was added
gene: BRWD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BRWD3 were set to 17668385
Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 300659
DDG2P v0.1 BRPF1 Rebecca Foulger gene: BRPF1 was added
gene: BRPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRPF1 were set to 27939639; 27939640
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
DDG2P v0.1 BRIP1 Rebecca Foulger gene: BRIP1 was added
gene: BRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116424
Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
DDG2P v0.1 BRCA2 Rebecca Foulger gene: BRCA2 was added
gene: BRCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
DDG2P v0.1 BRCA1 Rebecca Foulger gene: BRCA1 was added
gene: BRCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 12624153
Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 BRAT1 Rebecca Foulger gene: BRAT1 was added
gene: BRAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 22279524
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 for gene: BRAF
Publications for gene BRAF were changed from 19206169 to 18042262; 16474404; 16372351
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 613707 for gene: BRAF
DDG2P v0.1 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 19206169
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706
Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments
DDG2P v0.1 BPTF Rebecca Foulger gene: BPTF was added
gene: BPTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BPTF were set to 28942966
Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
DDG2P v0.1 BPIFB6 Rebecca Foulger gene: BPIFB6 was added
gene: BPIFB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: BPIFB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BPIFB6 were set to BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110
Mode of pathogenicity for gene: BPIFB6 was set to Other - please provide details in the comments
DDG2P v0.1 BOLA3 Rebecca Foulger gene: BOLA3 was added
gene: BOLA3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 11156534
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299
DDG2P v0.1 BMPR1B Rebecca Foulger gene: BMPR1B was added
gene: BMPR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMPR1B were set to 14523231; 18203755
Phenotypes for gene: BMPR1B were set to BRACHYDACTYLY TYPE A2 112600
DDG2P v0.1 BMPER Rebecca Foulger gene: BMPER was added
gene: BMPER was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMPER were set to 20869035
Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS 608022
DDG2P v0.1 BMP4 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932 for gene: BMP4
Publications for gene BMP4 were changed from 19249007 to 21340693; 18252212
DDG2P v0.1 BMP4 Rebecca Foulger gene: BMP4 was added
gene: BMP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 19249007
Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11 600625
DDG2P v0.1 BMP2 Rebecca Foulger gene: BMP2 was added
gene: BMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 100000
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
DDG2P v0.1 BLOC1S6 Rebecca Foulger gene: BLOC1S6 was added
gene: BLOC1S6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 21665000
Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 614171
DDG2P v0.1 BLM Rebecca Foulger gene: BLM was added
gene: BLM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to BLOOM SYNDROME 210900
DDG2P v0.1 BIN1 Rebecca Foulger gene: BIN1 was added
gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to 20142620; 17676042
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200
DDG2P v0.1 BICD2 Rebecca Foulger gene: BICD2 was added
gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 23664120
Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments
DDG2P v0.1 BHLHA9 Rebecca Foulger Added phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 for gene: BHLHA9
Publications for gene BHLHA9 were changed from 25466284 to 23790188; 22147889
DDG2P v0.1 BHLHA9 Rebecca Foulger gene: BHLHA9 was added
gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHA9 were set to 25466284
Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments
DDG2P v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Publications for gene BGN were changed from 27236923 to 27632686
DDG2P v0.1 BGN Rebecca Foulger gene: BGN was added
gene: BGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia
DDG2P v0.1 BFSP2 Rebecca Foulger gene: BFSP2 was added
gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BFSP2 were set to 10634598; 10729115
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments
DDG2P v0.1 BCS1L Rebecca Foulger gene: BCS1L was added
gene: BCS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12215968
Phenotypes for gene: BCS1L were set to GRACILE SYNDROME 603358
DDG2P v0.1 BCOR Rebecca Foulger gene: BCOR was added
gene: BCOR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCOR 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: BCOR were set to 15957158; 19367324; 15004558; 15770227
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 300166
DDG2P v0.1 BCL11A Rebecca Foulger gene: BCL11A was added
gene: BCL11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BCL11A were set to 27453576; 25533962
Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY
DDG2P v0.1 BCKDHB Rebecca Foulger gene: BCKDHB was added
gene: BCKDHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE 248600
DDG2P v0.1 BCKDHA Rebecca Foulger gene: BCKDHA was added
gene: BCKDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350
Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE 248600
DDG2P v0.1 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
DDG2P v0.1 BBS9 Rebecca Foulger gene: BBS9 was added
gene: BBS9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 209900
DDG2P v0.1 BBS7 Rebecca Foulger gene: BBS7 was added
gene: BBS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 209900
DDG2P v0.1 BBS5 Rebecca Foulger gene: BBS5 was added
gene: BBS5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 209900
DDG2P v0.1 BBS4 Rebecca Foulger gene: BBS4 was added
gene: BBS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 209900
DDG2P v0.1 BBS2 Rebecca Foulger gene: BBS2 was added
gene: BBS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 209900
DDG2P v0.1 BBS12 Rebecca Foulger gene: BBS12 was added
gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900
DDG2P v0.1 BBS10 Rebecca Foulger gene: BBS10 was added
gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900
DDG2P v0.1 BBS1 Rebecca Foulger gene: BBS1 was added
gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900
DDG2P v0.1 BANF1 Rebecca Foulger gene: BANF1 was added
gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BANF1 were set to 21549337
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008
Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments
DDG2P v0.1 B9D1 Rebecca Foulger gene: B9D1 was added
gene: B9D1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627
Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9 614209
DDG2P v0.1 B4GALT7 Rebecca Foulger gene: B4GALT7 was added
gene: B4GALT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 3631078; 15211654
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
DDG2P v0.1 B3GALT6 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 for gene: B3GALT6
Publications for gene B3GALT6 were changed from to 23664117
DDG2P v0.1 B3GALT6 Rebecca Foulger gene: B3GALT6 was added
gene: B3GALT6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME 130070
DDG2P v0.1 B3GALNT2 Rebecca Foulger gene: B3GALNT2 was added
gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
DDG2P v0.1 AXIN1 Rebecca Foulger gene: AXIN1 was added
gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AXIN1 was set to
Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864
Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments
DDG2P v0.1 AUTS2 Rebecca Foulger gene: AUTS2 was added
gene: AUTS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AUTS2 were set to 23332918
Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
DDG2P v0.1 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 20855850; 15033206; 12434311; 10070612; 6181239
Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
DDG2P v0.1 ATRX Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX
Publications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714
DDG2P v0.1 ATRX Rebecca Foulger gene: ATRX was added
gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095
Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
DDG2P v0.1 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 210600
DDG2P v0.1 ATP8B1 Rebecca Foulger gene: ATP8B1 was added
gene: ATP8B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 5762004; 11093741; 15317749; 9500542
Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
DDG2P v0.1 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268
Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP7A Rebecca Foulger Added phenotypes MENKES DISEASE 309400 for gene: ATP7A
Publications for gene ATP7A were changed from 20170900; 19153371 to 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525
DDG2P v0.1 ATP7A Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A
Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371
DDG2P v0.1 ATP7A Rebecca Foulger gene: ATP7A was added
gene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006
Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150
DDG2P v0.1 ATP6V1B2 Rebecca Foulger gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V1B2 were set to 25915598
Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME
Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP6V1B1 Rebecca Foulger gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
DDG2P v0.1 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP1A3 Rebecca Foulger Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 for gene: ATP1A3
Publications for gene ATP1A3 were changed from to 22842232
DDG2P v0.1 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235
Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments
DDG2P v0.1 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693
DDG2P v0.1 ATOH7 Rebecca Foulger gene: ATOH7 was added
gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900
Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments
DDG2P v0.1 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATM were set to 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587
Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA 208900
DDG2P v0.1 ATIC Rebecca Foulger gene: ATIC was added
gene: ATIC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 15114530
Phenotypes for gene: ATIC were set to AICA-RIBOSURIA 608688
DDG2P v0.1 ATAD3A Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
DDG2P v0.1 ATAD3A Rebecca Foulger gene: ATAD3A was added
gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
DDG2P v0.1 ASXL3 Rebecca Foulger gene: ASXL3 was added
gene: ASXL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL3 were set to 23383720
Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME 615485
DDG2P v0.1 ASXL2 Rebecca Foulger gene: ASXL2 was added
gene: ASXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL2 were set to 28061364
Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features
DDG2P v0.1 ASXL1 Rebecca Foulger gene: ASXL1 was added
gene: ASXL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL1 were set to 21706002; 22419483
Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME 605039
DDG2P v0.1 ASS1 Rebecca Foulger gene: ASS1 was added
gene: ASS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I 615700
DDG2P v0.1 ASPM Rebecca Foulger gene: ASPM was added
gene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to 12355089
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 ASPH Rebecca Foulger gene: ASPH was added
gene: ASPH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPH were set to 24768550
Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
DDG2P v0.1 ASPA Rebecca Foulger gene: ASPA was added
gene: ASPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549
Phenotypes for gene: ASPA were set to CANAVAN DISEASE 271900
DDG2P v0.1 ASL Rebecca Foulger gene: ASL was added
gene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190; 12384776
Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900
DDG2P v0.1 ASH1L Rebecca Foulger gene: ASH1L was added
gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005
Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments
DDG2P v0.1 ASCL1 Rebecca Foulger gene: ASCL1 was added
gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCL1 were set to 21937992
Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC3 Rebecca Foulger gene: ASCC3 was added
gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992
Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC1 Rebecca Foulger gene: ASCC1 was added
gene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 26924529
Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DDG2P v0.1 ASAH1 Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1
Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880
DDG2P v0.1 ASAH1 Rebecca Foulger gene: ASAH1 was added
gene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159
Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX
Publications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX
Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX
Publications for gene ARX were changed from 21204226; 11971879 to 1605226
DDG2P v0.1 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARX were set to 21204226; 11971879
Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419
DDG2P v0.1 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARSE were set to 9409863; 7720070; 12567415
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
DDG2P v0.1 ARSB Rebecca Foulger gene: ARSB was added
gene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200
DDG2P v0.1 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100
DDG2P v0.1 ARMC9 Rebecca Foulger gene: ARMC9 was added
gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
DDG2P v0.1 ARMC4 Rebecca Foulger gene: ARMC4 was added
gene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC4 were set to 23849778
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451
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
DDG2P v0.1 ARL6 Rebecca Foulger gene: ARL6 was added
gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 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
Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900
DDG2P v0.1 ARL14EP Rebecca Foulger gene: ARL14EP was added
gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL14EP were set to 21937992
Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments
DDG2P v0.1 ARID2 Rebecca Foulger gene: ARID2 was added
gene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARID2 were set to 28124119
Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder
DDG2P v0.1 ARID1B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562 for gene: ARID1B
Publications for gene ARID1B were changed from to 22426309; 22426308; 22405089
DDG2P v0.1 ARID1B Rebecca Foulger gene: ARID1B was added
gene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME
DDG2P v0.1 ARID1A Rebecca Foulger gene: ARID1A was added
gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900
DDG2P v0.1 ARHGEF9 Rebecca Foulger gene: ARHGEF9 was added
gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARHGEF9 were set to 21633362
Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
DDG2P v0.1 ARHGEF6 Rebecca Foulger gene: ARHGEF6 was added
gene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436
DDG2P v0.1 ARHGAP31 Rebecca Foulger gene: ARHGAP31 was added
gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP31 were set to 16451141; 474617
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300
DDG2P v0.1 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908
Phenotypes for gene: ARG1 were set to ARGININEMIA 207800
DDG2P v0.1 ARFGEF2 Rebecca Foulger gene: ARFGEF2 was added
gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARFGEF2 were set to 14647276
Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
DDG2P v0.1 ARCN1 Rebecca Foulger gene: ARCN1 was added
gene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism
DDG2P v0.1 AR Rebecca Foulger Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR
DDG2P v0.1 AR Rebecca Foulger gene: AR was added
gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200
DDG2P v0.1 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392
Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
DDG2P v0.1 APOPT1 Rebecca Foulger gene: APOPT1 was added
gene: APOPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to 21620353
Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067
DDG2P v0.1 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 19559397
Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936
DDG2P v0.1 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249
Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
DDG2P v0.1 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 21620353; 22290197
Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
DDG2P v0.1 AP3B2 Rebecca Foulger gene: AP3B2 was added
gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B2 were set to 27889060
Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy
DDG2P v0.1 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187
Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630
DDG2P v0.1 ANTXR1 Rebecca Foulger gene: ANTXR1 was added
gene: ANTXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711
Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes GNATHODIAPHYSEAL DYSPLASIA 166260 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger gene: ANO5 was added
gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
DDG2P v0.1 ANKRD26 Rebecca Foulger gene: ANKRD26 was added
gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD26 were set to 21211618; 10521306
Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000
Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments
DDG2P v0.1 ANKRD11 Rebecca Foulger gene: ANKRD11 was added
gene: ANKRD11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD11 were set to 15523620; 15378538; 21782149
Phenotypes for gene: ANKRD11 were set to KBG SYNDROME 148050
DDG2P v0.1 ANKH Rebecca Foulger Added phenotypes CHONDROCALCINOSIS 2 118600 for gene: ANKH
Publications for gene ANKH were changed from 11326272; 14322785; 20358596; 2712793 to 13130483; 8528213; 12297987; 8244341; 12297989; 9915952
DDG2P v0.1 ANKH Rebecca Foulger gene: ANKH was added
gene: ANKH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKH were set to 11326272; 14322785; 20358596; 2712793
Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
DDG2P v0.1 AMT Rebecca Foulger gene: AMT was added
gene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899
DDG2P v0.1 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 23911318
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
DDG2P v0.1 AMER1 Rebecca Foulger gene: AMER1 was added
gene: AMER1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
DDG2P v0.1 ALX4 Rebecca Foulger Added phenotypes PARIETAL FORAMINA 2 221704 for gene: ALX4
DDG2P v0.1 ALX4 Rebecca Foulger gene: ALX4 was added
gene: ALX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 605420
DDG2P v0.1 ALX3 Rebecca Foulger gene: ALX3 was added
gene: ALX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 19409524
Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 136760
DDG2P v0.1 ALX1 Rebecca Foulger gene: ALX1 was added
gene: ALX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 20451171; 27324866
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 136760
DDG2P v0.1 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 11586297
Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS 240656
DDG2P v0.1 ALPL Rebecca Foulger gene: ALPL was added
gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500
Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments
DDG2P v0.1 ALMS1 Rebecca Foulger gene: ALMS1 was added
gene: ALMS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to 11941370; 11941369; 21877133; 9063741; 17594715; 17850632
Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME 203800
DDG2P v0.1 ALG9 Rebecca Foulger gene: ALG9 was added
gene: ALG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to ALG9-CDG 300153
DDG2P v0.1 ALG8 Rebecca Foulger gene: ALG8 was added
gene: ALG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to ALG8-CDG 237145
DDG2P v0.1 ALG6 Rebecca Foulger gene: ALG6 was added
gene: ALG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to ALG6-CDG 237124
DDG2P v0.1 ALG3 Rebecca Foulger gene: ALG3 was added
gene: ALG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to ALG3-CDG 237128
DDG2P v0.1 ALG2 Rebecca Foulger gene: ALG2 was added
gene: ALG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to ALG2-CDG 237149
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884 for gene: ALG13
Publications for gene ALG13 were changed from 23934111 to 22492991
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger gene: ALG13 was added
gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG13 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: ALG13 were set to 23934111
Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.
Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments
DDG2P v0.1 ALG12 Rebecca Foulger gene: ALG12 was added
gene: ALG12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 12217961; 11983712; 12093361
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
DDG2P v0.1 ALG11 Rebecca Foulger gene: ALG11 was added
gene: ALG11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to ALG11-CDG 319490
DDG2P v0.1 ALG1 Rebecca Foulger gene: ALG1 was added
gene: ALG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to ALG1-CDG 300141
DDG2P v0.1 ALDOB Rebecca Foulger gene: ALDOB was added
gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 3383242
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600
DDG2P v0.1 ALDOA Rebecca Foulger gene: ALDOA was added
gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 8598869; 2825199
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881
Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments
DDG2P v0.1 ALDH7A1 Rebecca Foulger gene: ALDH7A1 was added
gene: ALDH7A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 16491085; 17721876; 17068770
Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY 266100
DDG2P v0.1 ALDH5A1 Rebecca Foulger gene: ALDH5A1 was added
gene: ALDH5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 14635103; 9683595; 16542398
Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
DDG2P v0.1 ALDH4A1 Rebecca Foulger gene: ALDH4A1 was added
gene: ALDH4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195
Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 239510
DDG2P v0.1 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 9250352; 9254849; 8528251; 10792573; 10577908
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME 270200
DDG2P v0.1 ALDH1A3 Rebecca Foulger gene: ALDH1A3 was added
gene: ALDH1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 23312594
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603 for gene: ALDH18A1
Publications for gene ALDH18A1 were changed from to 26320891
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1
DDG2P v0.1 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
DDG2P v0.1 ALAD Rebecca Foulger gene: ALAD was added
gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALAD were set to 2063868
Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740
Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments
DDG2P v0.1 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT3 were set to 22500628; 22729224
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387
Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments
DDG2P v0.1 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME 176920
Mode of pathogenicity for gene: AKT1 was set to Other - please provide details in the comments
DDG2P v0.1 AKR1D1 Rebecca Foulger gene: AKR1D1 was added
gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144
Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
DDG2P v0.1 AK2 Rebecca Foulger gene: AK2 was added
gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500
DDG2P v0.1 AIRE Rebecca Foulger gene: AIRE was added
gene: AIRE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 9398839
Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
DDG2P v0.1 AIPL1 Rebecca Foulger gene: AIPL1 was added
gene: AIPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIPL1 were set to 10615133; 10873396
Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 604393
DDG2P v0.1 AIMP1 Rebecca Foulger gene: AIMP1 was added
gene: AIMP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 260600
DDG2P v0.1 AIFM1 Rebecca Foulger Added phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521 for gene: AIFM1
Publications for gene AIFM1 were changed from 23217327 to 20362274
DDG2P v0.1 AIFM1 Rebecca Foulger gene: AIFM1 was added
gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 23217327
Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME
Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments
DDG2P v0.1 AHI1 Rebecca Foulger gene: AHI1 was added
gene: AHI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to 16453322
Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 AHDC1 Rebecca Foulger gene: AHDC1 was added
gene: AHDC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AHDC1 were set to 24791903
Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME 615829
DDG2P v0.1 AGXT Rebecca Foulger gene: AGXT was added
gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 8101040
Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900
DDG2P v0.1 AGTR2 Rebecca Foulger gene: AGTR2 was added
gene: AGTR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AGTR2 were set to X-LINKED MENTAL RETARDATION 88 290909
DDG2P v0.1 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 7807941; 11152660
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments
DDG2P v0.1 AGL Rebecca Foulger gene: AGL was added
gene: AGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417
Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III 232400
DDG2P v0.1 AGK Rebecca Foulger gene: AGK was added
gene: AGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGK were set to 15168109; 22284826; 22277967; 3560758
Phenotypes for gene: AGK were set to SENGERS SYNDROME 212350
DDG2P v0.1 AGA Rebecca Foulger gene: AGA was added
gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 6883788; 1765378; 8776587
Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400
DDG2P v0.1 AFG3L2 Rebecca Foulger Added phenotypes ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 for gene: AFG3L2
Publications for gene AFG3L2 were changed from 20208537 to 22964162
DDG2P v0.1 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20208537
Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246
DDG2P v0.1 AFF4 Rebecca Foulger gene: AFF4 was added
gene: AFF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF4 were set to 25730767
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Mode of pathogenicity for gene: AFF4 was set to Other - please provide details in the comments
DDG2P v0.1 AFF3 Rebecca Foulger gene: AFF3 was added
gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF3 were set to 100000
Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease
Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments
DDG2P v0.1 AFF2 Rebecca Foulger gene: AFF2 was added
gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AFF2 were set to 21739600; 8334699
Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
DDG2P v0.1 ADSL Rebecca Foulger gene: ADSL was added
gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050
Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments
DDG2P v0.1 ADRA2B Rebecca Foulger gene: ADRA2B was added
gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 21937992
Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments
DDG2P v0.1 ADNP Rebecca Foulger gene: ADNP was added
gene: ADNP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADNP were set to 24531329
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
DDG2P v0.1 ADK Rebecca Foulger gene: ADK was added
gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21937992
Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments
DDG2P v0.1 ADGRG6 Rebecca Foulger gene: ADGRG6 was added
gene: ADGRG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
DDG2P v0.1 ADGRG1 Rebecca Foulger gene: ADGRG1 was added
gene: ADGRG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to 15044805
Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA 606854
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123
DDG2P v0.1 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193
Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
DDG2P v0.1 ADAMTS18 Rebecca Foulger gene: ADAMTS18 was added
gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to 21862674
Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454
Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments
DDG2P v0.1 ADA Rebecca Foulger gene: ADA was added
gene: ADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127
Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY 102700
DDG2P v0.1 ACY1 Rebecca Foulger gene: ACY1 was added
gene: ACY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 17562838; 16274666; 16465618
Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY 609924
DDG2P v0.1 ACVR2B Rebecca Foulger gene: ACVR2B was added
gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574
Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments
DDG2P v0.1 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232
Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTL6B Rebecca Foulger gene: ACTL6B was added
gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTL6B were set to 28867141
Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder
Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments
DDG2P v0.1 ACTG1 Rebecca Foulger gene: ACTG1 was added
gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTB Rebecca Foulger Added phenotypes ACTB Haploinsufficiency syndtome for gene: ACTB
Publications for gene ACTB were changed from 22366783 to 100000
DDG2P v0.1 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 22366783
Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME
DDG2P v0.1 ACTA2 Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 for gene: ACTA2
DDG2P v0.1 ACTA2 Rebecca Foulger gene: ACTA2 was added
gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042
Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments
DDG2P v0.1 ACTA1 Rebecca Foulger gene: ACTA1 was added
gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTA1 were set to 10508519
Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3
Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments
DDG2P v0.1 ACSL4 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4
Publications for gene ACSL4 were changed from to 12525535; 11889465
DDG2P v0.1 ACSL4 Rebecca Foulger gene: ACSL4 was added
gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
DDG2P v0.1 ACP5 Rebecca Foulger gene: ACP5 was added
gene: ACP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 12786759; 21217752; 21217755; 16470600; 13524805
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
DDG2P v0.1 ACOX1 Rebecca Foulger gene: ACOX1 was added
gene: ACOX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX1 were set to 17458872; 8279468; 11815777; 2894756; 18536048
Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
DDG2P v0.1 ACO2 Rebecca Foulger gene: ACO2 was added
gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were set to 22405087
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
DDG2P v0.1 ACBD6 Rebecca Foulger gene: ACBD6 was added
gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 21937992
Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 ACAT1 Rebecca Foulger gene: ACAT1 was added
gene: ACAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617
Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA 203750
DDG2P v0.1 ACAN Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813 for gene: ACAN
DDG2P v0.1 ACAN Rebecca Foulger gene: ACAN was added
gene: ACAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
DDG2P v0.1 ACADVL Rebecca Foulger gene: ACADVL was added
gene: ACADVL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073
Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
DDG2P v0.1 ACADS Rebecca Foulger gene: ACADS was added
gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 2808706
Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments
DDG2P v0.1 ACADM Rebecca Foulger gene: ACADM was added
gene: ACADM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827
Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
DDG2P v0.1 ACAD9 Rebecca Foulger gene: ACAD9 was added
gene: ACAD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 21057504; 17564966
Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
DDG2P v0.1 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations
Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments
DDG2P v0.1 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 11590543
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME 275630
DDG2P v0.1 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874
Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
DDG2P v0.1 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED 300100
DDG2P v0.1 ABCC9 Rebecca Foulger gene: ABCC9 was added
gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments
DDG2P v0.1 ABCC6 Rebecca Foulger gene: ABCC6 was added
gene: ABCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to 22209248
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
DDG2P v0.1 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCB6 were set to 22226084
Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB11 Rebecca Foulger gene: ABCB11 was added
gene: ABCB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 10579978; 16039748; 9806540
Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
DDG2P v0.1 AASS Rebecca Foulger gene: AASS was added
gene: AASS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 934735; 10775527
Phenotypes for gene: AASS were set to HYPERLYSINEMIA 238700
DDG2P v0.1 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 25817015
Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
DDG2P v0.1 AAAS Rebecca Foulger gene: AAAS was added
gene: AAAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 11701718; 11159947; 18628786; 15173230; 11062474
Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Intellectual disability v2.536 ATP1A1 Louise Daugherty Classified gene: ATP1A1 as Green List (high evidence)
Intellectual disability v2.536 ATP1A1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.536 ATP1A1 Louise Daugherty Gene: atp1a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.927 ISPD Ivone Leong Mode of inheritance for gene: ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.926 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Intellectual disability v2.535 ATP1A1 Louise Daugherty commented on gene: ATP1A1
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Marked gene: IKBKG as ready
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.925 IKBKG Ivone Leong Publications for gene: IKBKG were set to
Short QT syndrome v0.17 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency; Carnitine deficiency, systemic primary 212140
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Classified gene: IKBKG as Green List (high evidence)
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. Incontinentia pigmenti is confirmed by OMIM and Gene2Phenotype. There are >3 unrelated families with a variant in this gene diagnosed with incontinentia pigmenti who have seizures (PMID: 30151858,28794079,24339369). Neurological symptoms (including seizures) are affect ~30% of patients with incontinentia pigmenti (PMID:28870493).
Early onset or syndromic epilepsy v0.924 IKBKG Ivone Leong Gene: ikbkg has been classified as Green List (High Evidence).
Short QT syndrome v0.16 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778
Short QT syndrome v0.15 SCN5A Sarah Leigh Marked gene: SCN5A as ready
Short QT syndrome v0.15 SCN5A Sarah Leigh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.15 SCN5A Sarah Leigh Tag watchlist tag was added to gene: SCN5A.
Short QT syndrome v0.15 SCN5A Sarah Leigh Classified gene: SCN5A as Amber List (moderate evidence)
Short QT syndrome v0.15 SCN5A Sarah Leigh Gene: scn5a has been classified as Amber List (Moderate Evidence).
Short QT syndrome v0.14 SCN5A Sarah Leigh Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Short QT syndrome v0.13 SCN5A Sarah Leigh Phenotypes for gene: SCN5A were changed from short qt; Brugada; family history of sudden death to Brugada syndrome 1 601144
Short QT syndrome v0.12 LRP5 Sarah Leigh Publications for gene: LRP5 were set to PMID: 30309679
Short QT syndrome v0.11 LRP5 Sarah Leigh Classified gene: LRP5 as Red List (low evidence)
Short QT syndrome v0.11 LRP5 Sarah Leigh Gene: lrp5 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Marked gene: EIF3F as ready
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. A single variant (rs141976414, ENSP00000310040.4:p.Phe232Val) has been identified as a homozygote in 9 subjects with intellectual disability and other phenotypic features, 6/9 have seizures. rs141976414 has a frequency of 0.12% in non-Finnish Europeans, however, it is not found as a homozygote in gnomAD (http://gnomad.broadinstitute.org). Supportive functional studies were also provided (PMID 30409806).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Classified gene: EIF3F as Green List (high evidence)
Early onset or syndromic epilepsy v0.923 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.922 EIF3F Sarah Leigh Classified gene: EIF3F as Green List (high evidence)
Early onset or syndromic epilepsy v0.922 EIF3F Sarah Leigh Gene: eif3f has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.921 IKBKG Ivone Leong Mode of inheritance for gene: IKBKG was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Marked gene: RHOBTB2 as ready
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in 8 unrelated cases. In vitro functional studies suggest that pathogenicity results from increased expression or reduced degradation of the variant peptides in affected individuals (PMID 29276004).
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Gene: rhobtb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Classified gene: RHOBTB2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.920 RHOBTB2 Sarah Leigh Gene: rhobtb2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.919 RHOBTB2 Sarah Leigh Phenotypes for gene: RHOBTB2 were changed from Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly to Epileptic encephalopathy, early infantile, 64 618004
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Marked gene: FUT8 as ready
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases, supportive segregation and in vitro data was also presented.
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Gene: fut8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Classified gene: FUT8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.918 FUT8 Sarah Leigh Gene: fut8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Marked gene: ATP6V1A as ready
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants were identified in unrelated cases of Epileptic encephalopathy, infantile or early childhood, 3 618012, one variant (c.1045G>A, NM_001690.3, p.D349N) appear give gain of function results in in vitro analysis, whereas the others had loss of function. Two homozygous variants were reported in two unrelated cases of Cutis laxa, autosomal recessive, type IID 617403 who both had seizures as part of their phenotypes.
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Gene: atp6v1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Early onset or syndromic epilepsy v0.917 ATP6V1A Sarah Leigh Phenotypes for gene: ATP6V1A were changed from # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 - IECEE3; # 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID - ARCL2D to Epileptic encephalopathy, infantile or early childhood, 3 618012; Cutis laxa, autosomal recessive, type IID 617403
Early onset or syndromic epilepsy v0.916 ATP6V1A Sarah Leigh Classified gene: ATP6V1A as Green List (high evidence)
Early onset or syndromic epilepsy v0.916 ATP6V1A Sarah Leigh Gene: atp6v1a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Marked gene: ATP1A1 as ready
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Three heterozygous de novo variants reported in three unrelated cases manifesting with refractory seizures, severe hypomagnesemia and severe intellectual disability. Supportive in vitro studies were also presented.
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Gene: atp1a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Classified gene: ATP1A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.915 ATP1A1 Sarah Leigh Gene: atp1a1 has been classified as Green List (High Evidence).
Intellectual disability v2.535 KDM5B Konstantinos Varvagiannis reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276005, 30409806; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.914 EIF3F Konstantinos Varvagiannis gene: EIF3F was added
gene: EIF3F was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment
Penetrance for gene: EIF3F were set to Complete
Review for gene: EIF3F was set to GREEN
Added comment: EIF3F was identified in a recent DDD publication (PMID: 30409806) as a cause of autosomal recessive intellectual disability.

All 9 individuals reported were homozygous for a missense variant (Phe232Val - rs141976414) which has a frequency of 0.12% in non-Finnish Europeans.

Features included intellectual disability (9/9), seizures (6/9), behavioral problems (3/9) and sensorineural hearing loss (3/9). Facial features were not specific.

Extensive functional studies were performed and support pathogenicity of the variant in the homozygous state (reduced protein levels, reduced translation rate in line with the role of EIF3F encoding a subunit for eukaryotic translation initiation factor 3, as well as reduced proliferation rates).

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.535 EIF3F Konstantinos Varvagiannis gene: EIF3F was added
gene: EIF3F was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to Intellectual disability; Seizures; Behavioral abnormality; Sensorineural hearing impairment
Penetrance for gene: EIF3F were set to Complete
Review for gene: EIF3F was set to GREEN
Added comment: EIF3F was identified in a recent DDD publication (PMID: 30409806) as a cause of autosomal recessive intellectual disability.

All 9 individuals reported were homozygous for a missense variant (Phe232Val - rs141976414) which has a frequency of 0.12% in non-Finnish Europeans.

Features included intellectual disability (9/9), seizures (6/9), behavioral problems (3/9) and sensorineural hearing loss (3/9). Facial features were not specific.

Extensive functional studies were performed and support pathogenicity of the variant in the homozygous state (reduced protein levels, reduced translation rate in line with the role of EIF3F encoding a subunit for eukaryotic translation initiation factor 3, as well as reduced proliferation rates).

As a result this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Congenital disorders of glycosylation v1.19 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

This type of CDG is associated with a normal carbohydrate-deficient transferrin (CDT) pattern.

As a result this gene can be considered for inclusion in this panel probably as green.
Sources: Literature
Early onset or syndromic epilepsy v0.914 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

As a result this gene can be considered for inclusion in this panel probably as green (3 unrelated families, strong additional functional data, consistent phenotype) or amber.
Sources: Literature, Expert Review
Intellectual disability v2.535 FUT8 Konstantinos Varvagiannis gene: FUT8 was added
gene: FUT8 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation, 618005
Penetrance for gene: FUT8 were set to Complete
Review for gene: FUT8 was set to GREEN
Added comment: PMID: 29304374 reports on 3 unrelated individuals with biallelic pathogenic variants in FUT8.

Two of the patients were born to consanguineous parents and were found to be homozygous for stopgain variants (p.Arg239* in one family and p.Arg315* in the other). A third patient was compound heterozygous for a missense as well as a splice variant.

All three presented with similar phenotype consisting of polyhydramnios (2 out of 3), IUGR and failure to thrive with short stature (3/3), severe developmental delay (3/3) with microcephaly (3/3) and seizures (3/3). Variable respiratory problems were also noted in all.

Western blot demonstrated loss of FUT8 protein expression in one individual homozygous for a stopgain mutation as well as the patient who was compound heterozygous for the missense and the splice variant. The splice variant was further shown to produce a shorter transcript due to lack of exon 9, leading to an in-frame deletion of 59 residues critical for the protein function.

Additional studies confirmed the fucosylation defect compared to controls.

The authors note that while Fut8 knockout mice are born normal, 70% die within the first 3 days due to severe growth retardation and respiratory deficiency (similarly to what is observed in humans, though to a lesser extent).

As a result this gene can be considered for inclusion in this panel probably as green (3 unrelated families, strong additional functional data, consistent phenotype) or amber.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 ATP6V1A Konstantinos Varvagiannis gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 - IECEE3; # 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID - ARCL2D
Penetrance for gene: ATP6V1A were set to unknown
Review for gene: ATP6V1A was set to GREEN
Added comment: Heterozygous mutations in ATP6V1A cause Epileptic encephalopathy, infantile or early childhood, type 3 (MIM 618012).

PMID: 29668857 reports 4 individuals from 4 families with de novo pathogenic variants in ATP6V1A. The phenotype was consistent with a developmental encephalopathy with epilepsy.

All patients were found to harbor missense variants. The variants resulted in altered lysosomal homeostasis, abnormal neuritogenesis and synaptic density. However in one of the variants tested (p.Asp100Tyr) pathogenicity was mediated by loss-of-function mechanism while for another (p.Asp349Asn) by gain-of-function mechanism.

Differences in severity were noted, with two variants (incl. Asp100Tyr) being associated with a more severe phenotype and the two other (incl. Asp349Asn) with milder degrees of ID and epilepsy.

Biallelic ATP6V1A mutations cause Cutis laxa type IID (MIM 617403). PMID: 28065471 is the first report on 3 individuals from 3 different families (2 of which were consanguineous). All patients were homozygous for ATP6V1A pathogenic variants. All three presented with hypotonia, one (or possibly two) with developmental delay and two with seizures although the developmental phenotype is not further commented on. (Additional patients described in the article harbored mutations in other genes and were not considered).

As a result, this gene can be considered for inclusion in this panel as green.
Sources: Literature, Expert Review
Intellectual disability v2.535 ATP6V1A Konstantinos Varvagiannis gene: ATP6V1A was added
gene: ATP6V1A was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP6V1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to # 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3
Penetrance for gene: ATP6V1A were set to unknown
Review for gene: ATP6V1A was set to GREEN
Added comment: Heterozygous mutations in ATP6V1A cause Epileptic encephalopathy, infantile or early childhood, type 3 (MIM 618012).

PMID: 29668857 reports 4 individuals from 4 families with de novo pathogenic variants in ATP6V1A. The phenotype was consistent with a developmental encephalopathy with epilepsy.

All patients were found to harbor missense variants. The variants resulted in altered lysosomal homeostasis, abnormal neuritogenesis and synaptic density. However in one of the variants tested (p.Asp100Tyr) pathogenicity was mediated by loss-of-function mechanism while for another (p.Asp349Asn) by gain-of-function mechanism.

Differences in severity were noted, with two variants (incl. Asp100Tyr) being associated with a more severe phenotype and the two other (incl. Asp349Asn) with milder degrees of ID and epilepsy.

Biallelic ATP6V1A mutations cause Cutis laxa type IID (MIM 617403). PMID: 28065471 is the first report on 3 individuals from 3 different families (2 of which were consanguineous). All patients were homozygous for ATP6V1A pathogenic variants. All three presented with hypotonia, one (or possibly two) with developmental delay and two with seizures although the developmental phenotype is not further commented on. (Additional patients described in the article harbored mutations in other genes and were not considered).

As a result, this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.914 ATP1A1 Konstantinos Varvagiannis gene: ATP1A1 was added
gene: ATP1A1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Hypomagnesemia; Seizures; Intellectual disability
Penetrance for gene: ATP1A1 were set to unknown
Review for gene: ATP1A1 was set to GREEN
Added comment: PMID: 30388404 reports on 3 subjects from 3 families with de novo pathogenic variants in ATP1A1. All 3 presented with similar phenotype consisting of hypomagnesemia, early onset refractory seizures as well as intellectual disability.

Alternative causes of hypomagnesemia with seizures (eg. due to TRPM6 mutations) were excluded while the phenotype of the 3 patients differed from similar disorder in that hypomagnesemia as well as seizures were not responsive to magnesium supplementation.

Three different missense variants are reported (L302R, G303R, M859R) all as de novo occurences and after confirmation of paternity.

Functional studies were suggestive of loss of the ATPase function, abnormal cation permeabilities as well as reduced level of expression (the latter was significant for at least for 2 of the 3 variants).

Mutations in ATP1A1 have also been reported in patients with Charcot-Marie-Tooth type 2 (CMT2DD - MIM: 618036) although the variants reported to date map seem to cluster within the helical linker region (residues 592 to 608). The young age of the patients with epilepsy and intellectual disability did not allow conclusions on eventual peripheral neuropathy in these individuals.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.535 ATP1A1 Konstantinos Varvagiannis gene: ATP1A1 was added
gene: ATP1A1 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Hypomagnesemia; Seizures; Intellectual disability
Penetrance for gene: ATP1A1 were set to unknown
Review for gene: ATP1A1 was set to GREEN
Added comment: PMID: 30388404 reports on 3 subjects from 3 families with de novo pathogenic variants in ATP1A1. All 3 presented with similar phenotype consisting of hypomagnesemia, early onset refractory seizures as well as intellectual disability.

Alternative causes of hypomagnesemia with seizures (eg. due to TRPM6 mutations) were excluded while the phenotype of the 3 patients differed from similar disorder in that hypomagnesemia as well as seizures were not responsive to magnesium supplementation.

Three different missense variants are reported (L302R, G303R, M859R) all as de novo occurences and after confirmation of paternity.

Functional studies were suggestive of loss of the ATPase function, abnormal cation permeabilities as well as reduced level of expression (the latter was significant for at least for 2 of the 3 variants).

Mutations in ATP1A1 have also been reported in patients with Charcot-Marie-Tooth type 2 (CMT2DD - MIM: 618036) although the variants reported to date map seem to cluster within the helical linker region (residues 592 to 608). The young age of the patients with epilepsy and intellectual disability did not allow conclusions on eventual peripheral neuropathy in these individuals.

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Expert Review, Literature
Lipodystrophy - childhood onset v0.1 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from OMIM and publication PMID:16267323
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Mode of inheritance for gene: GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital, 610015; seizures
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Marked gene: GM2A as ready
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Classified gene: GM2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Publications for gene: GM2A were set to
Intellectual disability v2.535 GM2A Louise Daugherty Added comment: Comment on publications: added missing publications to support gene-disease association.
Intellectual disability v2.535 GM2A Louise Daugherty Publications for gene: GM2A were set to
Early onset or syndromic epilepsy v0.910 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750; seizures to GM2-gangliosidosis, AB variant, 272750; seizures; Hexosaminidase activator deficiency; Tay-Sachs disease
Early onset or syndromic epilepsy v0.909 GM2A Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.909 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750; seizures
Early onset or syndromic epilepsy v0.908 GM2A Louise Daugherty Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Marked gene: GNB1 as ready
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Classified gene: GNB1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases (more than 20), and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.907 GNB1 Louise Daugherty Gene: gnb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.906 GNB1 Louise Daugherty Mode of inheritance for gene: GNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.905 GNB1 Louise Daugherty Publications for gene: GNB1 were set to 27108799; 25529582; 27108799
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Added comment: Comment on publications: 13 unrelated patients with autosomal dominant mental retardation-42 Petrovski et al. (2016) PMID:27108799 identified 9 different de novo heterozygous missense mutations in the GNB1 gene, the variants were confirmed by Sanger sequencing.
Early onset or syndromic epilepsy v0.904 GNB1 Louise Daugherty Publications for gene: GNB1 were set to
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Added comment: Comment on phenotypes: correction of the MIMid
Early onset or syndromic epilepsy v0.903 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 614018; seizures to Mental retardation, autosomal dominant 42, 616973; seizures
Early onset or syndromic epilepsy v0.902 GNB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.902 GNB1 Louise Daugherty Phenotypes for gene: GNB1 were changed from to Mental retardation, autosomal dominant 42, 614018; seizures
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Marked gene: GOSR2 as ready
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty commented on gene: GOSR2: added founder-effect tag. Even though there is a founder effect in this population, there is further evidence for it being the gene of interest by the fact that there is more than one variant identified so supports a green rating on the current evidence.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Tag founder-effect tag was added to gene: GOSR2.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Classified gene: GOSR2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty edited their review of gene: GOSR2: Added comment: External review notes that there are Corbett et al., 2011 (PMID: 21549339) reported five unrelated individuals reported with bi-allelic variants and denoted a founder effect.
To date, 17 reported patients with GOSR2‐mediated Progressive myoclonic epilepsy have been shown to carry the same homozygous c.430G>T (p.G144W) mutation, the result of a founder effect 21549339, 23449775, 24458321. However, Praschberger et al., (2015) PMID: 30363482 described a 61‐year‐old female patient suffering from progressive myoclonus epilepsy and was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation.; Changed rating: GREEN
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321; 27618868
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.12 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Congenital myopathy v1.61 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Congenital myaesthenic syndrome v1.10 Ellen McDonagh Panel name changed from Congenital myaesthenia to Congenital myaesthenic syndrome
List of related panels changed from Congenital myasthenia to Congenital myaesthenia; Congenital myasthenia
Panel types changed to Rare Disease 100K; GMS Rare Disease
Congenital muscular dystrophy v1.16 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Early onset or syndromic epilepsy v0.899 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v1.6 Ellen McDonagh Panel name changed from Cockayne and Xeroderma Pigmentosum-like disorders to Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
List of related panels changed from Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders to Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders
Panel types changed to Rare Disease 100K; GMS Rare Disease
Pneumothorax - familial v1.7 Ellen McDonagh Panel name changed from Familial Pneumothorax to Pneumothorax - familial
List of related panels changed from Familial Primary Spontaneous Pneumothorax to Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax
Panel types changed to Rare Disease 100K; GMS Rare Disease
Pulmonary arterial hypertension v1.37 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Hereditary haemorrhagic telangiectasia v1.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Nephrocalcinosis or nephrolithiasis v1.15 Ellen McDonagh Panel name changed from Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Nephrocalcinosis or nephrolithiasis
List of related panels changed from Renal tract calcification (or Nephrolithiasis or nephrocalcinosis) to Renal tract calcification (or Nephrolithiasis or nephrocalcinosis); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Panel types changed to Rare Disease 100K; GMS Rare Disease
Atypical haemolytic uraemic syndrome v1.4 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Renal tubulopathies v1.9 Ellen McDonagh Panel name changed from Renal tubular acidosis to Renal tubulopathies
List of related panels changed from to Renal tubular acidosis
Panel types changed to Rare Disease 100K; GMS Rare Disease
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.2 Ellen McDonagh Panel name changed from Primary Membranoproliferative Glomerulonephritis to Membranoproliferative glomerulonephritis
List of related panels changed from PMG; MPGN to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis
Panel types changed to Rare Disease 100K; GMS Rare Disease
Proteinuric renal disease v1.12 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Haematuria v1.15 Ellen McDonagh Panel name changed from Familial haematuria to Haematuria
List of related panels changed from Alport syndrome to Alport syndrome; Familial haematuria
Panel types changed to Rare Disease 100K; GMS Rare Disease
Inherited white matter disorders v1.23 Ellen McDonagh Panel name changed from Inherited white matter disorders to Leukodystrophy - adult onset
List of related panels changed from to Inherited white matter disorders
Panel types changed to Rare Disease 100K; GMS Rare Disease
Osteogenesis imperfecta v1.13 Ellen McDonagh Panel name changed from Osteogenesis Imperfecta to Osteogenesis imperfecta
List of related panels changed from Osteogenesis imperfecta to Osteogenesis Imperfecta
Panel types changed to Rare Disease 100K; GMS Rare Disease
Amelogenesis imperfecta v1.6 Ellen McDonagh Panel name changed from Amelogenesis Imperfecta to Amelogenesis imperfecta
List of related panels changed from to Amelogenesis Imperfecta
Panel types changed to Rare Disease 100K; GMS Rare Disease
Familial rhabdomyosarcoma v1.1 Ellen McDonagh Panel name changed from Familial rhabdomyosarcoma to Familial rhabdoid tumours
List of related panels changed from Familial rhabdomyosarcoma or sarcoma to Familial rhabdomyosarcoma; Familial rhabdomyosarcoma or sarcoma
Panel types changed to Rare Disease 100K; GMS Rare Disease
Pancreatitis v0.21 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Ductal plate malformation v0.35 Ellen McDonagh Panel name changed from Ductal plate malformation (DPM) to Polycystic liver disease
List of related panels changed from to Ductal plate malformation (DPM)
Panel types changed to Rare Disease 100K; GMS Rare Disease
Stickler syndrome v1.24 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Corneal abnormalities v1.5 Ellen McDonagh Panel name changed from Corneal abnormalities to Corneal dystrophy
List of related panels changed from to Corneal abnormalities
Panel types changed to Rare Disease 100K; GMS Rare Disease
Optic neuropathy v1.24 Ellen McDonagh Panel name changed from Inherited optic neuropathies to Optic neuropathy
List of related panels changed from to Inherited optic neuropathies
Optic neuropathy v1.23 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Arrhythmogenic right ventricular cardiomyopathy v1.6 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Arrhythmogenic right ventricular cardiomyopathy v1.5 Ellen McDonagh Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrythmogenic cardiomyopathy
List of related panels changed from to Arrhythmogenic Right Ventricular Cardiomyopathy
Dilated Cardiomyopathy and conduction defects v1.35 Ellen McDonagh Panel name changed from Dilated Cardiomyopathy and conduction defects to Dilated cardiomyopathy - teen and adult
List of related panels changed from Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM) to Dilated Cardiomyopathy and conduction defects; Dilated Cardiomyopathy; Dilated Cardiomyopathy (DCM)
Panel types changed to Rare Disease 100K; GMS Rare Disease
Hypertrophic cardiomyopathy v1.22 Ellen McDonagh Panel name changed from Hypertrophic Cardiomyopathy to Hypertrophic cardiomyopathy - teen and adult
List of related panels changed from HCM to Hypertrophic Cardiomyopathy; HCM
Panel types changed to Rare Disease 100K; GMS Rare Disease
Short QT syndrome v0.10 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Catecholaminergic polymorphic VT v1.3 Ellen McDonagh Panel name changed from Catecholaminergic Polymorphic Ventricular Tachycardia to Catecholaminergic polymorphic VT
List of related panels changed from to Catecholaminergic Polymorphic Ventricular Tachycardia
Panel types changed to Rare Disease 100K; GMS Rare Disease
Brugada syndrome and cardiac sodium channel disease v1.11 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
Long QT syndrome v1.7 Ellen McDonagh List of related panels changed from to Long QT
Long QT syndrome v1.6 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease
GI tract tumours v1.7 Ellen McDonagh Panel name changed from GI tract tumours to Inherited colorectal cancer (with or without polyposis)
List of related panels changed from Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract
Panel types changed to Rare Disease 100K; GMS Rare Disease
Inherited ovarian cancer (without breast cancer) v1.2 Ellen McDonagh Panel name changed from Familial ovarian cancer to Inherited ovarian cancer (without breast cancer)
List of related panels changed from to Familial ovarian cancer
Panel types changed to Rare Disease 100K; GMS Rare Disease
Adult onset hereditary spastic paraplegia v0.0 Ellen McDonagh Added Panel Hereditary spastic paraplegia - adult onset
Set panel types to: GMS Rare Disease
Hereditary spastic paraplegia v1.70 Ellen McDonagh Panel name changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
Hereditary spastic paraplegia v1.69 Ellen McDonagh List of related panels changed from to Hereditary spastic paraplegia
Primary pigmented nodular adrenocortical disease v0.0 Ellen McDonagh Added Panel Primary pigmented nodular adrenocortical disease
Set panel types to: GMS Rare Disease
Rare genetic inflammatory skin disorders v0.0 Ellen McDonagh Added Panel Rare genetic inflammatory skin disorders
Set panel types to: GMS Rare Disease
Mosaic skin disorders - deep sequencing v0.0 Ellen McDonagh Added Panel Mosaic skin disorders - deep sequencing
Set panel types to: GMS Rare Disease
Vascular skin disorders v0.0 Ellen McDonagh Added Panel Vascular skin disorders
Set panel types to: GMS Rare Disease
Epidermodysplasia verruciformis v0.0 Ellen McDonagh Added Panel Epidermodysplasia verruciformis
Set panel types to: GMS Rare Disease
Cutaneous photosensitivity with a likely genetic cause v0.0 Ellen McDonagh Added Panel Cutaneous photosensitivity with a likely genetic cause
Set panel types to: GMS Rare Disease
Pigmentary skin disorders v0.0 Ellen McDonagh Added Panel Pigmentary skin disorders
Set panel types to: GMS Rare Disease
Multiple monogenic benign skin tumours v0.0 Ellen McDonagh Added Panel Multiple monogenic benign skin tumours
Set panel types to: GMS Rare Disease
Autosomal recessive primary hypertrophic osteoarthropathy v0.0 Ellen McDonagh Added Panel Autosomal recessive primary hypertrophic osteoarthropathy
Set panel types to: GMS Rare Disease
Palmoplantar keratodermas v0.0 Ellen McDonagh Added Panel Palmoplantar keratodermas
Set panel types to: GMS Rare Disease
Ichthyosis and erythrokeratoderma v0.0 Ellen McDonagh Added Panel Ichthyosis and erythrokeratoderma
Set panel types to: GMS Rare Disease
Epidermolysis bullosa and congenital skin fragility v0.0 Ellen McDonagh Added Panel Epidermolysis bullosa and congenital skin fragility
Set panel types to: GMS Rare Disease
Ectodermal dysplasia v0.0 Ellen McDonagh Added Panel Ectodermal dysplasia
Set panel types to: GMS Rare Disease
Familial tumoral calcinosis v0.0 Ellen McDonagh Added Panel Familial tumoral calcinosis
Set panel types to: GMS Rare Disease
Surfactant deficiency v0.0 Ellen McDonagh Added Panel Surfactant deficiency
Set panel types to: GMS Rare Disease
Respiratory ciliopathies including non-CF bronchiectasis v0.0 Ellen McDonagh Added Panel Respiratory ciliopathies including non-CF bronchiectasis
Set panel types to: GMS Rare Disease
Hereditary ataxia v1.125 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018 to Epilepsy, progressive myoclonic 6, 614018
Laterality disorders and isomerism v0.0 Ellen McDonagh Added Panel Laterality disorders and isomerism
Set panel types to: GMS Rare Disease
Tubulointerstitial kidney disease v0.0 Ellen McDonagh Added Panel Tubulointerstitial kidney disease
Set panel types to: GMS Rare Disease
Hereditary ataxia v1.124 GOSR2 Louise Daugherty Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green. Variants of GOSR2 are classified as causing less common Autosomal Recessive Hereditary Ataxias (i.e. reported in 1-5 families)
Hereditary ataxia v1.124 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Hereditary ataxia v1.123 GOSR2 Louise Daugherty Added comment: Comment on phenotypes: Added missing phenotype
Hereditary ataxia v1.123 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Ramsay Hunt syndrome; Epilepsy, progressive myoclonic 6, 614018
Lipodystrophy - childhood onset v0.0 Ellen McDonagh Added Panel Lipodystrophy - childhood onset
Set panel types to: GMS Rare Disease
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review and additional publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Primary lymphoedema v1.32 Ellen McDonagh Panel name changed from Lymphatic Disorders to Primary lymphoedema
List of related panels changed from Meiges disease;Meige disease;Milroy disease;Lymphoedema distichiasis;Lipoedema disease;Primary lymphoedema to Lymphatic Disorders; Meiges disease; Meige disease; Milroy disease; Lymphoedema distichiasis; Lipoedema disease
Bleeding and platelet disorders v0.0 Ellen McDonagh Added Panel Bleeding and platelet disorders
Set panel types to: GMS Rare Disease
Inherited bleeding disorders v1.146 Ellen McDonagh List of related panels changed from Inherited platelet disorders; Monogenic thrombophilia; Bleeding and platelet disorders; Inherited bleeding and or platelet disorders; Unprovoked Thrombosis before 40; Monogenic venous thrombosis to Inherited platelet disorders; Monogenic thrombophilia; Inherited bleeding and or platelet disorders; Unprovoked Thrombosis before 40; Monogenic venous thrombosis
Cholestasis v0.0 Ellen McDonagh Added Panel Cholestasis
Set panel types to: GMS Rare Disease
Neonatal cholestasis v1.3 Ellen McDonagh List of related panels changed from Cholestasis to
Hypophosphataemia or rickets v0.2 FGFR1 Ivone Leong Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypophosphataemia or rickets v0.1 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Hypophosphataemia or rickets. Sources: Literature,Emory Genetics Laboratory
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia (166250); Hypophosphatemia
Hypophosphataemia or rickets v0.1 FAM20C Ivone Leong gene: FAM20C was added
gene: FAM20C was added to Hypophosphataemia or rickets. Sources: Literature,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome (259775)
Hypophosphataemia or rickets v0.1 SLC34A1 Ivone Leong gene: SLC34A1 was added
gene: SLC34A1 was added to Hypophosphataemia or rickets. Sources: Literature
Mode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)
Hypophosphataemia or rickets v0.1 CYP2R1 Ivone Leong gene: CYP2R1 was added
gene: CYP2R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation (600081)
Hypophosphataemia or rickets v0.1 VDR Ivone Leong gene: VDR was added
gene: VDR was added to Hypophosphataemia or rickets. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA (277440)
Hypophosphataemia or rickets v0.1 CYP27B1 Ivone Leong gene: CYP27B1 was added
gene: CYP27B1 was added to Hypophosphataemia or rickets. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I (264700)
Hypophosphataemia or rickets v0.1 ENPP1 Ivone Leong gene: ENPP1 was added
gene: ENPP1 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2 (613312)
Hypophosphataemia or rickets v0.1 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Hypophosphataemia or rickets. Sources: Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Hypophosphatemic rickets (300554)
Hypophosphataemia or rickets v0.1 SLC9A3R1 Ivone Leong gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Hypophosphataemia or rickets. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)
Hypophosphataemia or rickets v0.1 SLC34A3 Ivone Leong gene: SLC34A3 was added
gene: SLC34A3 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria (241530)
Hypophosphataemia or rickets v0.1 DMP1 Ivone Leong gene: DMP1 was added
gene: DMP1 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR (241520)
Hypophosphataemia or rickets v0.1 FGF23 Ivone Leong gene: FGF23 was added
gene: FGF23 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF23 were set to Hypophosphatemic rickets, autosomal dominant (193100)
Hypophosphataemia or rickets v0.1 PHEX Ivone Leong gene: PHEX was added
gene: PHEX was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PHEX 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: PHEX were set to Hypophosphatemic rickets, X-linked dominant (307800)
Bardet Biedl syndrome v0.0 Ellen McDonagh Added Panel Bardet Biedl syndrome
Set panel types to: GMS Rare Disease
Ehlers Danlos syndrome with a likely monogenic cause v1.35 Ellen McDonagh Panel name changed from Ehlers-Danlos syndromes to Ehlers Danlos syndromes
List of related panels changed from Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS to Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes
Skeletal muscle channelopathy v0.0 Ellen McDonagh Added Panel Myotonia congenita
Set panel types to: GMS Rare Disease
Paroxysmal central nervous system disorders v0.0 Ellen McDonagh Added Panel Paroxysmal neurological disorders, pain disorders and sleep disorders
Set panel types to: GMS Rare Disease
Adult onset dystonia, chorea or related movement disorder v0.0 Ellen McDonagh Added Panel Adult onset movement disorder
Set panel types to: GMS Rare Disease
Possible mitochondrial disorder - nuclear genes v0.0 Ellen McDonagh Added Panel Possible mitochondrial disorder - nuclear genes
Set panel types to: GMS Rare Disease
Mitochondrial disorder with complex V deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex V deficiency
Set panel types to: GMS Rare Disease
Mitochondrial disorder with complex IV deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex IV deficiency
Set panel types to: GMS Rare Disease
Mitochondrial disorder with complex III deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex III deficiency
Set panel types to: GMS Rare Disease
Mitochondrial disorder with complex II deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex II deficiency
Set panel types to: GMS Rare Disease
Mitochondrial disorder with complex I deficiency v0.0 Ellen McDonagh Added Panel Mitochondrial disorder with complex I deficiency
Set panel types to: GMS Rare Disease
Mitochondrial DNA maintenance disorder v0.0 Ellen McDonagh Added Panel Mitochondrial DNA maintenance disorder
Set panel types to: GMS Rare Disease
Mitochondrial liver disease, including transient infantile liver failure v0.0 Ellen McDonagh Added Panel Mitochondrial liver disease
Set panel types to: GMS Rare Disease
Pyruvate dehydrogenase (PDH) deficiency v0.0 Ellen McDonagh Added Panel Pyruvate dehydrogenase (PDH) deficiency
Set panel types to: GMS Rare Disease
Leber hereditary optic neuropathy v0.0 Ellen McDonagh Added Panel Leber hereditary optic neuropathy
Set panel types to: GMS Rare Disease
Lysosomal storage disorder v0.0 Ellen McDonagh Added Panel Lysosomal storage disorder
Set panel types to: GMS Rare Disease
Glycogen storage disease v0.0 Ellen McDonagh Added Panel Glycogen storage disease
Set panel types to: GMS Rare Disease
Familial chylomicronaemia syndrome (FCS) v0.0 Ellen McDonagh Added Panel Lipoprotein lipase deficiency
Set panel types to: GMS Rare Disease
Neuronal ceroid lipofuscinosis v0.0 Ellen McDonagh Added Panel Neuronal ceroid lipofuscinosis
Set panel types to: GMS Rare Disease
Inherited predisposition to acute myeloid leukaemia (AML) v0.0 Ellen McDonagh Added Panel Inherited predisposition to acute myeloid leukaemia (AML)
Set panel types to: GMS Rare Disease
Inherited pancreatic cancer v0.0 Ellen McDonagh Added Panel Inherited pancreatic cancer
Set panel types to: GMS Rare Disease
Inherited predisposition to GIST v0.0 Ellen McDonagh Added Panel Inherited predisposition to GIST
Set panel types to: GMS Rare Disease
Familial melanoma v0.0 Ellen McDonagh Added Panel Familial melanoma
Set panel types to: GMS Rare Disease
Inherited renal cancer v0.0 Ellen McDonagh Added Panel Inherited renal cancer
Set panel types to: GMS Rare Disease
Cytopenia - NOT Fanconi anaemia v0.0 Ellen McDonagh Added Panel Cytopenia - NOT Fanconi anaemia
Set panel types to: GMS Rare Disease
Rare anaemia v0.0 Ellen McDonagh Added Panel Rare anaemia
Set panel types to: GMS Rare Disease
Combined factor V and VIII deficiency v0.0 Ellen McDonagh Added Panel Combined factor V and VIII deficiency
Set panel types to: GMS Rare Disease
Thrombophilia with a likely monogenic cause v0.0 Ellen McDonagh Added Panel Thrombophilia
Set panel types to: GMS Rare Disease
Early onset or syndromic epilepsy v0.897 GOSR2 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.897 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, 614018
Iron metabolism disorders - NOT common HFE mutations v0.0 Ellen McDonagh Added Panel Iron metabolism disorders
Set panel types to: GMS Rare Disease
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external review, confirmed with OMIM/publications
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea v0.0 Ellen McDonagh Added Panel Intestinal failure
Set panel types to: GMS Rare Disease
Non-acute porphyrias v0.0 Ellen McDonagh Added Panel Non-acute porphyrias
Set panel types to: GMS Rare Disease
Congenital fibrosis of the extraocular muscles v0.0 Ellen McDonagh Added Panel Congenital fibrosis of the extraocular muscles
Set panel types to: GMS Rare Disease
Albinism or congenital nystagmus v0.0 Ellen McDonagh Added Panel Albinism or congenital nystagmus
Set panel types to: GMS Rare Disease
Sporadic aniridia v0.0 Ellen McDonagh Added Panel Aniridia
Set panel types to: GMS Rare Disease
Structural eye disease v0.0 Ellen McDonagh Added Panel Structural eye disease
Set panel types to: GMS Rare Disease
Confirmed Fanconi anaemia or Bloom syndrome v0.0 Ellen McDonagh Added Panel Confirmed Fanconi anaemia or Bloom syndrome
Set panel types to: GMS Rare Disease
Common craniosynostosis syndromes v0.0 Ellen McDonagh Added Panel Common craniosynostosis syndromes
Set panel types to: GMS Rare Disease
Progressive cardiac conduction disease v0.0 Ellen McDonagh Added Panel Progressive cardiac conduction disease
Set panel types to: GMS Rare Disease
Inherited polyposis and early onset colorectal cancer - germline testing v0.0 Ellen McDonagh Added Panel Inherited polyposis
Set panel types to: GMS Rare Disease
Inherited MMR deficiency (Lynch syndrome) v0.0 Ellen McDonagh Added Panel Inherited MMR deficiency (Lynch syndrome)
Set panel types to: GMS Rare Disease
Hereditary systemic amyloidosis v0.0 Ellen McDonagh Added Panel Amyloidosis with no identifiable cause
Set panel types to: GMS Rare Disease
Paediatric disorders - additional genes v0.3 Ellen McDonagh Panel status changed from internal to public
Congenital hypothyroidism v1.4 Ellen McDonagh Panel name changed from Congenital hypothyroidism or thyroid agenesis to Congenital hypothyroidism
List of related panels changed from Congenital hypothyroidism to Congenital hypothyroidism or thyroid agenesis
Congenital hypothyroidism v1.3 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Malformations of cortical development v1.161 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Arthrogryposis v2.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.895 Ellen McDonagh Panel name changed from Genetic Epilepsy Syndromes to Genetic epilepsy syndromes
List of related panels changed from Epilepsy Plus;Epilepsy plus other features to Epilepsy Plus; Epilepsy plus other features; Genetic Epilepsy Syndromes
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Cystic kidney disease v1.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Rare multisystem ciliopathy disorders v1.78 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Distal myopathies v1.7 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Paediatric motor neuronopathies v1.15 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Intracerebral calcification disorders v1.11 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial dysautonomia v1.5 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial cerebral small vessel disease v1.4 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Brugada syndrome and cardiac sodium channel disease v1.10 KCNH2 Jules Hancox reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16043162, 19174314, 18692916; Phenotypes: Brugada syndrome, long QT syndrome, short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.9 LRP5 Jules Hancox gene: LRP5 was added
gene: LRP5 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: LRP5 was set to Unknown
Publications for gene: LRP5 were set to PMID: 30309679
Phenotypes for gene: LRP5 were set to short qt
Mode of pathogenicity for gene: LRP5 was set to Other
Review for gene: LRP5 was set to RED
Added comment: The evidence here comes from animal model of LRP5 knockout, which results in a short QT interval via modulation of calcium channel degradation. So, in principle, this shows a novel modulator of repolarization that could be implicated in SQTS. Yet to be seen patients.
Sources: Literature
Gastrointestinal neuromuscular disorders v1.8 Ellen McDonagh Panel name changed from Neonatal and familial gastrointestinal neuromuscular disorders to Gastrointestinal neuromuscular disorders
List of related panels changed from Infantile pseudo-obstruction; Early onset or familial intestinal pseudo obstruction to Neonatal and familial gastrointestinal neuromuscular disorders; Infantile pseudo-obstruction; Early onset or familial intestinal pseudo obstruction
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial pulmonary fibrosis v1.4 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial non syndromic congenital heart disease v1.34 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Extreme early-onset hypertension v1.9 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.894 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, 308300
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Marked gene: HSPD1 as ready
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Added comment: Comment when marking as ready: Leukodystrophy, hypomyelinating, 4 is associated with the gene on OMIM and Gene2Phenotype. However, there are only 2 reported families with variants in this gene. In one large family (PMID:18571143) 6 of 10 affected members have seizures. In another study (PMID:30083362) one patient with a variant in this gene has seizures.
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Gene: hspd1 has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.13 Ellen McDonagh Panel name changed from Early onset familial premature ovarian insufficiency to Primary ovarian insufficiency
List of related panels changed from Early onset familial premature ovarian failure to Early onset familial premature ovarian insufficiency; Early onset familial premature ovarian failure
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Tag watchlist tag was added to gene: HSPD1.
Monogenic nephrogenic diabetes insipidus v1.7 Ellen McDonagh Panel name changed from monogenic nephrogenic diabetes insipidus to Monogenic nephrogenic diabetes insipidus
List of related panels changed from Monogenic nephrogenic diabetes insipidus to monogenic nephrogenic diabetes insipidus
Early onset or syndromic epilepsy v0.893 HSPD1 Ivone Leong Publications for gene: HSPD1 were set to
Monogenic nephrogenic diabetes insipidus v1.6 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Rhabdomyolysis and metabolic muscle disorders v1.22 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Limb disorders v0.276 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Clefting v1.33 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
CAKUT v1.28 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Segmental overgrowth disorders - Deep sequencing v1.4 Ellen McDonagh Panel name changed from Regional overgrowth disorders to Segmental overgrowth disorders
List of related panels changed from to Regional overgrowth disorders
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Unexplained kidney failure in young people v1.20 Ellen McDonagh Panel name changed from Unexplained kidney failure in young people to End-stage renal disease - childhood onset
List of related panels changed from Familial IgA nephropathy and IgA vasculitis to Unexplained kidney failure in young people; Familial IgA nephropathy and IgA vasculitis
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Cerebral vascular malformations v1.35 Ellen McDonagh Panel name changed from Cerebrovascular disorders to Cerebral vascular malformations
List of related panels changed from Vein of Galen malformation; Cerebral vascular malformations; Cerebral arteriovenous malformations; Moyamoya disease to Cerebrovascular disorders; Vein of Galen malformation; Cerebral arteriovenous malformations; Moyamoya disease
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.892 HSPD1 Ivone Leong Mode of inheritance for gene: HSPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.891 HSPD1 Ivone Leong Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, 612233
Hereditary neuropathy v1.26 Ellen McDonagh Panel name changed from Charcot-Marie-Tooth disease to Hereditary neuropathy
List of related panels changed from to Charcot-Marie-Tooth disease
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Ehlers Danlos syndrome with a likely monogenic cause v1.34 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Marked gene: HSD17B4 as ready
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Classified gene: HSD17B4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as 3+ unrelated patients reported with D-bifunctional protein deficiency have variants in this gene and also have seizures. D-bifunctional protein deficiency is conformed to be associated with this gene on both OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.890 HSD17B4 Ivone Leong Gene: hsd17b4 has been classified as Green List (High Evidence).
Childhood solid tumours v1.20 Ellen McDonagh Panel name changed from Paediatric congenital malformation-dysmorphism-tumour syndrome to Tumour predisposition - childhood onset
List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndromes ; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Primary immunodeficiency or monogenic inflammatory bowel disease v1.28 Ellen McDonagh Panel name changed from Primary immunodeficiency disorders to Primary immunodeficiency
List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection to Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.889 HSD17B4 Ivone Leong Publications for gene: HSD17B4 were set to 9345094; 9482850; 9915948; 11743515
Retinal disorders v1.87 Ellen McDonagh Panel name changed from Posterior segment abnormalities to Retinal disorders
List of related panels changed from Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Bilateral congenital or childhood onset cataracts v1.21 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.888 HSD17B4 Ivone Leong Publications for gene: HSD17B4 were set to
Hereditary spastic paraplegia v1.68 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Multiple endocrine tumours v1.7 Ellen McDonagh Panel name changed from Multiple endocrine neoplasia type 1 to Endocrine neoplasia
List of related panels changed from Multiple endocrine tumours to Multiple endocrine tumours; Multiple endocrine neoplasia type 1
Cerebral malformation v0.3 Ellen McDonagh Panel status changed from internal to public
Changed child panels to:
Hypotonic infant v0.4 Ellen McDonagh Panel status changed from internal to public
Changed child panels to:
Hereditary ataxia and cerebellar anomalies - childhood onset v0.3 Ellen McDonagh Panel status changed from internal to public
Changed child panels to:
Cystic renal disease v0.4 Ellen McDonagh Panel status changed from internal to public
Changed child panels to:
Paediatric disorders v0.6 Ellen McDonagh Panel status changed from internal to public
Paediatric disorders v0.5 Ellen McDonagh Changed child panels to:
Childhood onset leukodystrophy v0.4 Ellen McDonagh Panel status changed from internal to public
Childhood onset leukodystrophy v0.3 Ellen McDonagh Changed child panels to:
Panel types changed to GMS Rare Disease Virtual
Intellectual disability v2.534 Ellen McDonagh List of related panels changed from Coarse facial features including Coffin-Siris-like disorders;ID;Moderate; severe or profound intellectual disability;Schizophrenia plus additional features to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features
Early onset or syndromic epilepsy v0.887 HSD17B4 Ivone Leong Mode of inheritance for gene: HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.886 HSD17B4 Ivone Leong Phenotypes for gene: HSD17B4 were changed from to D-bifunctional protein deficiency, 261515
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Marked gene: HRAS as ready
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Gene: hras has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.885 HRAS Ivone Leong Publications for gene: HRAS were set to
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Classified gene: HRAS as Green List (high evidence)
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There are 3+ cases reporting of patients with Costello syndrome who have seizures (PMID: 28337834, 27195699, 26888048, 22926243) and all patients have HRAS heterozygous variants.

It is also confirmed as being associated with Costello syndrome on OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.884 HRAS Ivone Leong Gene: hras has been classified as Green List (High Evidence).
Intellectual disability v2.533 Ellen McDonagh List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID;Moderate; severe or profound intellectual disability to Coarse facial features including Coffin-Siris-like disorders;ID;Moderate; severe or profound intellectual disability;Schizophrenia plus additional features
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested from external reviewer
Early onset or syndromic epilepsy v0.883 FKRP Louise Daugherty Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Short QT syndrome v0.9 Sarah Leigh List of related panels changed from to
Short QT syndrome v0.8 KCNQ1 Olivia Niblock reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15159330; Phenotypes: Idiopathic Ventricular Fibrillation, Short QT-interval syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.8 KCNQ1 Reviewer Test Deleted their review
Brugada syndrome and cardiac sodium channel disease v1.10 KCNE5 Sarah Leigh Added comment: Comment on publications: PMID 29350269: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome. PMID 30289750: "Kcne5 knockout ( Kcne5-/0) mice have ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5+/0 mice), and 10% shorter ventricular refractory period. The findings represent the first reported native role for Kcne5 and the first demonstrated Kcne regulation of KV2.1 in mouse heart. Increased KV current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked."
Brugada syndrome and cardiac sodium channel disease v1.10 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to 29350269
Short QT syndrome v0.8 KCNE5 Sarah Leigh edited their review of gene: KCNE5: Changed rating: RED
Short QT syndrome v0.8 KCNE5 Sarah Leigh Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Short QT syndrome v0.7 KCNE5 Sarah Leigh Added comment: Comment on publications: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome.
Short QT syndrome v0.7 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to
Brugada syndrome and cardiac sodium channel disease v1.9 KCNE5 Sarah Leigh Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
Brugada syndrome and cardiac sodium channel disease v1.8 KCNE5 Sarah Leigh Added comment: Comment on publications: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome.
Brugada syndrome and cardiac sodium channel disease v1.8 KCNE5 Sarah Leigh Publications for gene: KCNE5 were set to
Short QT syndrome v0.6 CACNA2D1 Sarah Leigh Classified gene: CACNA2D1 as Red List (low evidence)
Short QT syndrome v0.6 CACNA2D1 Sarah Leigh Gene: cacna2d1 has been classified as Red List (Low Evidence).
Short QT syndrome v0.5 CACNA2D1 Sarah Leigh Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Short QT syndrome v0.4 RANGRF Sarah Leigh reviewed gene: RANGRF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 PKP2 Sarah Leigh reviewed gene: PKP2: Rating: RED; Mode of pathogenicity: ; Publications: 24352520, 26888179; Phenotypes: ; Mode of inheritance: Unknown
Short QT syndrome v0.4 NOS1AP Sarah Leigh reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNQ1 Sarah Leigh reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNJ8 Sarah Leigh reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNJ5 Sarah Leigh reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNJ2 Sarah Leigh reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 KCNH2 Sarah Leigh reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNE5 Sarah Leigh reviewed gene: KCNE5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 KCNE3 Sarah Leigh reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 KCNE2 Sarah Leigh reviewed gene: KCNE2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 KCNE1 Sarah Leigh reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Short QT syndrome v0.4 KCND3 Sarah Leigh reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 HCN4 Sarah Leigh reviewed gene: HCN4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 GPD1L Sarah Leigh reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 DLG1 Sarah Leigh reviewed gene: DLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 CAV3 Sarah Leigh reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CALM3 Sarah Leigh reviewed gene: CALM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Short QT syndrome v0.4 CALM2 Sarah Leigh reviewed gene: CALM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CALM1 Sarah Leigh reviewed gene: CALM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 CACNB2 Sarah Leigh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 CACNA2D1 Sarah Leigh reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 21383000; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 CACNA1C Sarah Leigh reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30027834, 30279520; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 ANK2 Sarah Leigh reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.4 ALG10 Sarah Leigh reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 AKAP9 Sarah Leigh reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 18093912; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.4 ABCC9 Sarah Leigh reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.882 HRAS Ivone Leong Mode of inheritance for gene: HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.881 HRAS Ivone Leong Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, 218040; Schimmelpenning-Feuerstein-Mims syndrome, 218040
Early onset or syndromic epilepsy v0.880 HRAS Ivone Leong Phenotypes for gene: HRAS were changed from to Costello syndrome, 218040
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Marked gene: HEXA as ready
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Gene: hexa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Classified gene: HEXA as Green List (high evidence)
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green as seizures is a phenotype of
Tay-Sachs disease in accordance with the review by Zornitza Stark (Australian Genomics). Tay-Sachs disease is confirmed to be associated with this gene by both OMIM and Gene2Phenotype.
Early onset or syndromic epilepsy v0.879 HEXA Ivone Leong Gene: hexa has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.878 HEXA Ivone Leong Mode of inheritance for gene: HEXA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.877 HEXA Ivone Leong Mode of inheritance for gene: HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v0.3 SLC4A3 Sarah Leigh Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308
Early onset or syndromic epilepsy v0.876 HEXA Ivone Leong Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, 272800
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Marked gene: HEPACAM as ready
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Gene: hepacam has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Classified gene: HEPACAM as Green List (high evidence)
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence in the literature. One study (PMID: 21419380) reported 8 families with 10 patients with either homozygous or compound heterozygous variants in this gene having epilepsy. Another study (PMID: 27389245) reported on a patient with a homozygous variant in this gene having generalized tonic-clonic seizure.
Megalencephalic leukoencephalopathy with subcortical cysts 2A confirmed to be associated with this gene on OMIM but not Gene2Phenotype.
Early onset or syndromic epilepsy v0.875 HEPACAM Ivone Leong Gene: hepacam has been classified as Green List (High Evidence).
Short QT syndrome v0.2 SLC4A3 Sarah Leigh Source Expert Review Green was added to SLC4A3.
Mode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 SLC22A5 Sarah Leigh Source Expert Review Green was added to SLC22A5.
Mode of inheritance for gene SLC22A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 TRPM4 Sarah Leigh gene: TRPM4 was added
gene: TRPM4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SNTA1 Sarah Leigh gene: SNTA1 was added
gene: SNTA1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 SLMAP Sarah Leigh gene: SLMAP was added
gene: SLMAP was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SLMAP was set to
Short QT syndrome v0.2 SCN5A Sarah Leigh Source Emory Genetics Laboratory was added to SCN5A.
Source Long QT syndrome (Version 1.5) was added to SCN5A.
Source Expert Review Green was added to SCN5A.
Source Brugada syndrome (Version 1.7) was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 SCN4B Sarah Leigh gene: SCN4B was added
gene: SCN4B was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN3B Sarah Leigh gene: SCN3B was added
gene: SCN3B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN2B Sarah Leigh gene: SCN2B was added
gene: SCN2B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN2B was set to
Short QT syndrome v0.2 SCN1B Sarah Leigh gene: SCN1B was added
gene: SCN1B was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 SCN10A Sarah Leigh Source Brugada syndrome (Version 1.7) was added to SCN10A.
Source Expert Review Red was added to SCN10A.
Mode of inheritance for gene SCN10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Red List (low evidence)
Short QT syndrome v0.2 RYR2 Sarah Leigh gene: RYR2 was added
gene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: RYR2 was set to Unknown
Short QT syndrome v0.2 RANGRF Sarah Leigh gene: RANGRF was added
gene: RANGRF was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: RANGRF was set to
Short QT syndrome v0.2 PKP2 Sarah Leigh gene: PKP2 was added
gene: PKP2 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: PKP2 was set to Unknown
Short QT syndrome v0.2 NOS1AP Sarah Leigh gene: NOS1AP was added
gene: NOS1AP was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: NOS1AP was set to
Short QT syndrome v0.2 KCNQ1 Sarah Leigh Source Emory Genetics Laboratory was added to KCNQ1.
Source Long QT syndrome (Version 1.5) was added to KCNQ1.
Source Expert Review Green was added to KCNQ1.
Source UKGTN was added to KCNQ1.
Source Radboud University Medical Center, Nijmegen was added to KCNQ1.
Added phenotypes Short QT syndrome 2 609621 for gene: KCNQ1
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 KCNJ8 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to KCNJ8.
Source Expert Review Red was added to KCNJ8.
Rating Changed from No List (delete) to Red List (low evidence)
Short QT syndrome v0.2 KCNJ5 Sarah Leigh gene: KCNJ5 was added
gene: KCNJ5 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 KCNJ2 Sarah Leigh Source Emory Genetics Laboratory was added to KCNJ2.
Source Long QT syndrome (Version 1.5) was added to KCNJ2.
Source Expert Review Green was added to KCNJ2.
Source UKGTN was added to KCNJ2.
Source Radboud University Medical Center, Nijmegen was added to KCNJ2.
Added phenotypes Short QT syndrome 3 609622 for gene: KCNJ2
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 KCNH2 Sarah Leigh Source UKGTN was added to KCNH2.
Source Radboud University Medical Center, Nijmegen was added to KCNH2.
Source Emory Genetics Laboratory was added to KCNH2.
Source Expert Review Green was added to KCNH2.
Source Brugada syndrome (Version 1.7) was added to KCNH2.
Source Long QT syndrome (Version 1.5) was added to KCNH2.
Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Short QT syndrome 1 609620 for gene: KCNH2
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 KCNE5 Sarah Leigh gene: KCNE5 was added
gene: KCNE5 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCNE5 was set to
Short QT syndrome v0.2 KCNE3 Sarah Leigh gene: KCNE3 was added
gene: KCNE3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCNE3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 KCNE2 Sarah Leigh gene: KCNE2 was added
gene: KCNE2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 KCNE1 Sarah Leigh gene: KCNE1 was added
gene: KCNE1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Short QT syndrome v0.2 KCND3 Sarah Leigh gene: KCND3 was added
gene: KCND3 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: KCND3 was set to
Short QT syndrome v0.2 HCN4 Sarah Leigh gene: HCN4 was added
gene: HCN4 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 GPD1L Sarah Leigh gene: GPD1L was added
gene: GPD1L was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Short QT syndrome v0.2 DLG1 Sarah Leigh gene: DLG1 was added
gene: DLG1 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7)
Mode of inheritance for gene: DLG1 was set to
Short QT syndrome v0.2 CAV3 Sarah Leigh gene: CAV3 was added
gene: CAV3 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CALM3 Sarah Leigh gene: CALM3 was added
gene: CALM3 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: CALM3 was set to
Short QT syndrome v0.2 CALM2 Sarah Leigh gene: CALM2 was added
gene: CALM2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CALM1 Sarah Leigh gene: CALM1 was added
gene: CALM1 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Short QT syndrome v0.2 CACNB2 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to CACNB2.
Source Expert Review Green was added to CACNB2.
Source UKGTN was added to CACNB2.
Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 CACNA2D1 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to CACNA2D1.
Source Expert Review Green was added to CACNA2D1.
Source UKGTN was added to CACNA2D1.
Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Short QT syndrome 6 for gene: CACNA2D1
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 CACNA1C Sarah Leigh Source Emory Genetics Laboratory was added to CACNA1C.
Source Long QT syndrome (Version 1.5) was added to CACNA1C.
Source Expert Review Green was added to CACNA1C.
Source UKGTN was added to CACNA1C.
Source Brugada syndrome (Version 1.7) was added to CACNA1C.
Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C
Rating Changed from No List (delete) to Green List (high evidence)
Short QT syndrome v0.2 ANK2 Sarah Leigh gene: ANK2 was added
gene: ANK2 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7)
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Short QT syndrome v0.2 ALG10 Sarah Leigh gene: ALG10 was added
gene: ALG10 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5)
Mode of inheritance for gene: ALG10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALG10 were set to {Long QT syndrome, acquired, reduced susceptibility to} 613688
Short QT syndrome v0.2 AKAP9 Sarah Leigh gene: AKAP9 was added
gene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory
Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820
Short QT syndrome v0.2 ABCC9 Sarah Leigh Source Brugada syndrome (Version 1.7) was added to ABCC9.
Source Expert Review Red was added to ABCC9.
Mode of inheritance for gene ABCC9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from No List (delete) to Red List (low evidence)
Intellectual disability v2.532 TBR1 Konstantinos Varvagiannis reviewed gene: TBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30268909, 25356899, 23160955, 22495311, 30250039; Phenotypes: Intellectual disability, Autism, Abnormal cortical gyration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Marked gene: EFHC1 as ready
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Classified gene: EFHC1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Added comment: Comment on list classification: As this gene is associated with susceptibility to juvenile absence epilepsy (MIM 607631) and juvenile myoclonic epilepsy 1 (MIM 254770), EFHC1 has been rated at amber in consultation with Arianna Tucci (GEL Clinical Fellow).
Early onset or syndromic epilepsy v0.874 EFHC1 Sarah Leigh Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.873 HEPACAM Ivone Leong Publications for gene: HEPACAM were set to
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Marked gene: PAFAH1B1 as ready
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with PAFAH1B1 variants in Lissencephaly 1 and reports of seizures.
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.872 PAFAH1B1 Eleanor Williams Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1 607432
Early onset or syndromic epilepsy v0.871 PAFAH1B1 Eleanor Williams Publications for gene: PAFAH1B1 were set to
Early onset or syndromic epilepsy v0.870 PAFAH1B1 Eleanor Williams Mode of inheritance for gene: PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Classified gene: PAFAH1B1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Added comment: Comment on list classification: Numerous cases of variants in the PAFAH1B1 gene in patients with Lissencephaly 1 and reporting seizures.
Early onset or syndromic epilepsy v0.869 PAFAH1B1 Eleanor Williams Gene: pafah1b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.868 PAFAH1B1 Eleanor Williams commented on gene: PAFAH1B1
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Marked gene: OPHN1 as ready
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Added comment: Comment when marking as ready: 3 cases of patients with SNVs in OPHN1 and a phenotype that includes epilepsy/seizures. Carrier females may show milder phenotype.
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Gene: ophn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Added comment: Comment on mode of inheritance: Note OMIM reports an XLR mode of inheritance. But evidence from PMIDs: 16221952, 29510240 suggest that carrier females can show phenotypic traits although in milder form.
Early onset or syndromic epilepsy v0.868 OPHN1 Eleanor Williams Mode of inheritance for gene: OPHN1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.867 OPHN1 Eleanor Williams Classified gene: OPHN1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.867 OPHN1 Eleanor Williams Added comment: Comment on list classification: 3 cases of patients with SNVs in OPHN1 and a phenotype that includes epilepsy/seizures. Seizures not seen in every case.
Early onset or syndromic epilepsy v0.867 OPHN1 Eleanor Williams Gene: ophn1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.866 OPHN1 Eleanor Williams Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486; MENTAL RETARDATION X-LINKED OPHN1-RELATED
Early onset or syndromic epilepsy v0.865 OPHN1 Eleanor Williams Publications for gene: OPHN1 were set to
Early onset or syndromic epilepsy v0.864 OPHN1 Eleanor Williams commented on gene: OPHN1
Early onset or syndromic epilepsy v0.864 HEPACAM Ivone Leong Mode of inheritance for gene: HEPACAM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.863 HEPACAM Ivone Leong Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Marked gene: OCLN as ready
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with variants in OCLN and seizures reported.
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1 251290
Early onset or syndromic epilepsy v0.861 OCLN Eleanor Williams Publications for gene: OCLN were set to
Early onset or syndromic epilepsy v0.860 OCLN Eleanor Williams Mode of inheritance for gene: OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Classified gene: OCLN as Green List (high evidence)
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Added comment: Comment on list classification: More than 3 cases/variants reported in OCLN in patients with Pseudo-TORCH syndrome 1. At least 3 families with reports of seizures in newborns.
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 OCLN Eleanor Williams commented on gene: OCLN
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Marked gene: HCFC1 as ready
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment when marking as ready: Mental retardation, X-linked 3 is associated with HCFC1 and is confirmed in both OMIM and Gene2Phenotype. >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Classified gene: HCFC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green as >3 unrelated probands have been found to have a mutation in this gene and also have epilepsy.
Early onset or syndromic epilepsy v0.858 HCFC1 Ivone Leong Gene: hcfc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.857 HCFC1 Ivone Leong Publications for gene: HCFC1 were set to
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Marked gene: NUBPL as ready
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases associating NUBPL with Mitochondrial complex I deficiency but not sufficient cases with epilepsy/seizure phenotype to rate this gene green on this panel.
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.856 NUBPL Eleanor Williams Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.855 NUBPL Eleanor Williams Publications for gene: NUBPL were set to
Early onset or syndromic epilepsy v0.854 NUBPL Eleanor Williams Mode of inheritance for gene: NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Classified gene: NUBPL as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Added comment: Comment on list classification: Keeping Amber as only 1 confirmed case of patient with epilepsy
Early onset or syndromic epilepsy v0.853 NUBPL Eleanor Williams Gene: nubpl has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 NUBPL Eleanor Williams commented on gene: NUBPL
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Marked gene: HCCS as ready
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Added comment: Comment when marking as ready: 'Linear skin defects with multiple congenital anomalies 1' confirmed in both OMIM and Gene2Phenotype. However, seizures is not a common feature. Only found one patient with who had a seizure (17033964).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Gene: hccs has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.852 HCCS Ivone Leong Publications for gene: HCCS were set to
White matter disorders and cerebral calcification - narrow panel v0.5 Ellen McDonagh Panel status changed from internal to public
White matter disorders and cerebral calcification - narrow panel v0.4 Ellen McDonagh Changed child panels to:
Panel types changed to GMS Rare Disease Virtual
White matter disorders and cerebral calcification - narrow panel v0.2 Ellen McDonagh Panel status changed from public to internal
White matter disorders and cerebral calcification - narrow panel v0.1 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Marked gene: FH as ready
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Gene: fh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Classified gene: FH as Green List (high evidence)
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.851 FH Louise Daugherty Gene: fh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.850 FH Louise Daugherty Publications for gene: FH were set to 2314594; 10805328; 10805328; 20301679
Early onset or syndromic epilepsy v0.849 HCFC1 Ivone Leong Mode of inheritance for gene: HCFC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.848 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Early onset or syndromic epilepsy v0.847 FH Louise Daugherty edited their review of gene: FH: Added comment: From GeneReview PMID: 20301679. Fumarate hydratase deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Epileptic seizures are common (40%-80%), although age of onset and seizure type are variable (PMID:10805328, PMID:20549362). Infantile spasms (epileptic spasms) accompanied by hypsarrhythmia on EEG have been reported (PMID:15221078, PMID:16151915).; Changed rating: GREEN
Early onset or syndromic epilepsy v0.847 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
Early onset or syndromic epilepsy v0.846 HCFC1 Ivone Leong Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
Early onset or syndromic epilepsy v0.845 FH Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.845 FH Louise Daugherty Publications for gene: FH were set to
Early onset or syndromic epilepsy v0.844 FH Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.844 FH Louise Daugherty Mode of inheritance for gene: FH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.843 FH Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel.
Early onset or syndromic epilepsy v0.843 FH Louise Daugherty Phenotypes for gene: FH were changed from to Fumarase deficiency, 606812; Seizures
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Marked gene: NSDHL as ready
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Added comment: Comment when marking as ready: 3 cases/variants in unrelated families where male show seizures. One SNV is missense but it segregates with the disease in the family, is predicted to affect protein function and is not found in dbSNP.
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.842 NSDHL Eleanor Williams Phenotypes for gene: NSDHL were changed from to CK syndrome 300831
Early onset or syndromic epilepsy v0.841 NSDHL Eleanor Williams Mode of inheritance for gene: NSDHL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.840 NSDHL Eleanor Williams Publications for gene: NSDHL were set to
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Classified gene: NSDHL as Green List (high evidence)
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Added comment: Comment on list classification: 3 cases reported of variants in this gene in males with CK syndrome.
Early onset or syndromic epilepsy v0.839 NSDHL Eleanor Williams Gene: nsdhl has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.838 NSDHL Eleanor Williams commented on gene: NSDHL
Early onset or syndromic epilepsy v0.838 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6; http://www.ashg.org/genetics/ashg07s/f20570.htm
Early onset or syndromic epilepsy v0.837 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976; http://doi.org/10.15844/pedneurbriefs-26-12-6
Early onset or syndromic epilepsy v0.836 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome, 602849; Epilepsy
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Marked gene: FGFR3 as ready
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Gene: fgfr3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Classified gene: FGFR3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.835 FGFR3 Louise Daugherty Gene: fgfr3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.834 FGFR3 Louise Daugherty edited their review of gene: FGFR3: Changed rating: GREEN
Early onset or syndromic epilepsy v0.834 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to 27485793; 23649205; 24630288; 17621485; 16222682; 12794698; 23044018; 12794698; 18000976
Early onset or syndromic epilepsy v0.833 FGFR3 Louise Daugherty Added comment: Comment on phenotypes: added additional relevant phenotype Muenke syndrome Millichap, J.G., 2012. Epilepsy in Muenke Syndrome. Pediatric Neurology Briefs, 26(12), pp.93–93. DOI: http://doi.org/10.15844/pedneurbriefs-26-12-6 : A review of 789 published cases of Muenke syndrome with neurological complications identified epilepsy in 6 cases, with intracranial anomalies in 5. The intracranial anomalies were agenesis of the corpus callosum, hemimegalencephaly, and porencephaly. In the review of 58 patients with Muenke syndrome in the Washington, DC cohort, 7 (12%) had epilepsy and 4 survived neonatal apnea. Patients with Muenke syndrome should be monitored for apnea and seizures.
Early onset or syndromic epilepsy v0.833 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000; Focal epilepsy to Hypochondroplasia, 146000; Focal Epilepsy; Muenke syndrome 602849, Epilepsy
Early onset or syndromic epilepsy v0.832 FGFR3 Louise Daugherty Mode of inheritance for gene: FGFR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.831 FGFR3 Louise Daugherty Added comment: Comment on publications: Hypochondroplasia and FGFR3 variants are associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy and was first reported PMID: 24630288 (2014). Subsequent cases PMID: 27485793, PMID:23649205, PMID:12794698. In addition, patients with with Muenke syndrome (MS) also show similarities in early-onset temporal lobe-related seizures PMID:23044018, PMID:12794698, PMID:18000976.
Early onset or syndromic epilepsy v0.831 FGFR3 Louise Daugherty Publications for gene: FGFR3 were set to
Early onset or syndromic epilepsy v0.830 FGFR3 Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel.
Early onset or syndromic epilepsy v0.830 FGFR3 Louise Daugherty Phenotypes for gene: FGFR3 were changed from to Hypochondroplasia, 146000; Focal epilepsy
Early onset or syndromic epilepsy v0.829 HCCS Ivone Leong Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.828 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Seizures
Early onset or syndromic epilepsy v0.827 HCCS Ivone Leong Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801
Ductal plate malformation v0.34 DGUOK Ivone Leong Publications for gene: DGUOK were set to
Ductal plate malformation v0.33 DGUOK Ivone Leong Classified gene: DGUOK as Green List (high evidence)
Ductal plate malformation v0.33 DGUOK Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. DGUOK is a green gene on the 'Undiagnosed metabolic disorders' and 'Mitochondrial disorders' panels.

Dr Bill Griffiths (Addenbrooke's Hospital, Cambridge, UK) suggested: DGUOK based on OMIM 617068 and the description and reference within that entry.

In one study (30234759) showed 2 unrelated families with 3 affected members (all by consanguineous parents) have portal hypertension. The DGUOK variant is a missense mutation. No functional studies were performed.
In a second study (17073823) a proband showed liver fibrosis and compound missense mutations in DGUOK (one of which was the same missense mutation found in 30234759). In vitro studies were performed using fibroblasts taken from patient, which showed that the variant caused reduced enzyme activity.
Ductal plate malformation v0.33 DGUOK Ivone Leong Gene: dguok has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Marked gene: FGF12 as ready
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Classified gene: FGF12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.826 FGF12 Louise Daugherty Gene: fgf12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.825 FGF12 Louise Daugherty Mode of inheritance for gene: FGF12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Added comment: Comment on publications: Added publications that support the association with the phenotype suggested by external reviewer and recent publication PMID:29699863 that describes two unrelated cases, 1 Japanese patient diagnosed with early infantile epileptic encephalopathy (EIEE) and another diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). Both patients had an identical heterozygous missense mutation [c.341G>A:p.(Arg114His)] in FGF12 , which was identified with whole-exome sequencing. The mutation is identical to previously reported mutations in cases with early onset epileptic encephalopathy.
Early onset or syndromic epilepsy v0.824 FGF12 Louise Daugherty Publications for gene: FGF12 were set to
Dilated Cardiomyopathy and conduction defects v1.34 PPP1R13L Sian Ellard reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28864777, 15661756; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Marked gene: FBXL4 as ready
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Classified gene: FBXL4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Early onset or syndromic epilepsy v0.823 FBXL4 Louise Daugherty Gene: fbxl4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.822 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to 23993193; 23993194; 25868664; 26404457; 27182039; 27290639; 27099744; 27743463
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty edited their review of gene: FBXL4: Added comment: FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome, seizures are part of the clinical phenotype and can start at age four months (Dai et al 2017 PMID: 27743463). Seizure types reported include complex partial seizures (Baroy et al 2016 PMID:27182039) and absence and generalized seizures (Gai et al 2013 PMID:23993194). The clinical manifestations of FBXL4-Related mtDNA Depletion Syndrome with seizures occurs at a frequency of approximately 33% of cases (Almannai et al 2017 PMID:28383868); Changed rating: GREEN
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Added comment: Comment on publications: FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals to date. Added publications suggested to support upgrading of the gene to Green.
Early onset or syndromic epilepsy v0.821 FBXL4 Louise Daugherty Publications for gene: FBXL4 were set to
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from external review and checked with OMIM
Early onset or syndromic epilepsy v0.820 FGF12 Louise Daugherty Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47, 617166
Early onset or syndromic epilepsy v0.819 GPHN Ivone Leong Mode of inheritance for gene: GPHN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.818 GPHN Ivone Leong Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, 615501
Early onset or syndromic epilepsy v0.817 GTPBP3 Ivone Leong Publications for gene: GTPBP3 were set to
Early onset or syndromic epilepsy v0.816 GTPBP3 Ivone Leong Mode of inheritance for gene: GTPBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype and MIMid
Early onset or syndromic epilepsy v0.815 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
Early onset or syndromic epilepsy v0.814 GTPBP3 Ivone Leong Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, 616198
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external review and checked with PMID
Early onset or syndromic epilepsy v0.813 FBXL4 Louise Daugherty Mode of inheritance for gene: FBXL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Added comment: Comment when marking as ready: Associated with 'mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy' in Gene2phenotype. Only 2 unrelated families have been reported to have seizures.
Early onset or syndromic epilepsy v0.812 GTPBP3 Ivone Leong Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.532 FBXL4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype and MIMid
Intellectual disability v2.532 FBXL4 Louise Daugherty Phenotypes for gene: FBXL4 were changed from FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger commented on gene: TIMM50: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 TIMM50 Rebecca Foulger Tag watchlist tag was added to gene: TIMM50.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger Tag watchlist tag was added to gene: SUCLG1.
Early onset or syndromic epilepsy v0.812 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy was much more frequent in patients with SUCLA2 mutations compared to patients with SUCLG1 mutations: Only 1 patient with the SUCLG1 variant had epilepsy.
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Marked gene: SUCLA2 as ready
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Gene: sucla2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Classified gene: SUCLA2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review plus sufficient cases (>3) of seizures in MMA patients (At least 3 new patients in PMID:26475597, 2 cousins from 1 family in PMID:15877282, and 1 Faroe Island patient in PMID:17287286/17301081).
Early onset or syndromic epilepsy v0.812 SUCLA2 Rebecca Foulger Gene: sucla2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.811 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: PMID:26475597 (Carrozzo et al 2016) report 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. Epilepsy reported as generalized seizures, unspecified epilesy or infantile spasms was mainly reported in patients with SUCLA2 variants. Only 1 patient with the SUCLG1 variant had epilepsy (5%). At least 3 cases of epilepsy listed in new patients with SUCLA2 variants (supplementary material).
Early onset or syndromic epilepsy v0.811 SUCLA2 Rebecca Foulger Publications for gene: SUCLA2 were set to 17301081; 17287286; 15877282; 23759946
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Marked gene: COQ9 as ready
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Coenzyme Q10 deficiency, primary, 5, 614654, although seizures are not mentioned. At least 2 loss of function variants have been reported in two unrelated cases. In vitro studies show that expression of wildtype COQ9 in patient cells carrying homozygous c.521+1del can rescue reduced activity of mitochondrial complex II/III and restore CoQ10 and COQ7 levels (PMID 26081641)
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Publications for gene: COQ9 were set to
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Classified gene: COQ9 as Green List (high evidence)
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.808 COQ9 Sarah Leigh Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.807 COQ9 Sarah Leigh Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, 614654
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Marked gene: COQ6 as ready
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Gene: coq6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.806 COQ6 Sarah Leigh Mode of inheritance for gene: COQ6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.805 COQ6 Sarah Leigh Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, 614650
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Marked gene: COQ4 as ready
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Classified gene: COQ4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.803 COQ4 Sarah Leigh Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276
Early onset or syndromic epilepsy v0.802 COQ4 Sarah Leigh Publications for gene: COQ4 were set to
Early onset or syndromic epilepsy v0.801 COQ4 Sarah Leigh Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Marked gene: COQ2 as ready
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Gene: coq2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Classified gene: COQ2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.800 COQ2 Sarah Leigh Gene: coq2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.799 COQ2 Sarah Leigh Publications for gene: COQ2 were set to
Early onset or syndromic epilepsy v0.798 SUCLA2 Rebecca Foulger Publications for gene: SUCLA2 were set to
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: Jaberi et al 2013 (PMID:23759946) identified a homozygous c.751G>A transition in SUCLA2 (D251N) in 2 Iranian cousins with MIM:612073. No sign of epilepsy was seen in Patient 1. Epilepsy was not mentioned for the cousin (Patient 2).
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2: Elpeleg et al 2005 (PMID:15877282) identified a homozgyous deletion/insertion in SUCLA2 in 2 first cousins from a consanguineous Muslim family. Both cousins had generalized seizures from age 1 and age 3.
Early onset or syndromic epilepsy v0.797 SUCLA2 Rebecca Foulger commented on gene: SUCLA2
Early onset or syndromic epilepsy v0.797 COQ2 Sarah Leigh Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 607426
Early onset or syndromic epilepsy v0.796 COQ2 Sarah Leigh Mode of inheritance for gene: COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Marked gene: COL4A2 as ready
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Classified gene: COL4A2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.795 COL4A2 Sarah Leigh Gene: col4a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.794 COL4A2 Sarah Leigh Publications for gene: COL4A2 were set to
Early onset or syndromic epilepsy v0.793 COL4A2 Sarah Leigh Phenotypes for gene: COL4A2 were changed from to Porencephaly 2 614483
Early onset or syndromic epilepsy v0.792 COL4A2 Sarah Leigh Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.791 SUCLA2 Rebecca Foulger Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.790 SUCLA2 Rebecca Foulger Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Marked gene: SUCLG1 as ready
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment when marking as ready: Marked as Ready: November 13th 2018.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Marked gene: COL4A1 as ready
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.789 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:22231385 (Honzik et al 2012) report 1 patient with SUCLG1 variant, who did not have seizures.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Classified gene: SUCLG1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Confirmed DD-G2P gene for FATAL INFANTILE LACTIC ACIDOSIS. Although patients with SUCLG1 variants can report with seizures (1 of 3 patients in PMID:26028457 plus EEG abnormalities in PMID:27484306), there are currently insufficient cases to rate as diagnostic.
Early onset or syndromic epilepsy v0.789 SUCLG1 Rebecca Foulger Gene: suclg1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Classified gene: COL4A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.788 COL4A1 Sarah Leigh Gene: col4a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:28358460 gives an overview of treatment of seizures when present in SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: Seizures are not reported in the clinical phenotype of patients in PMIDs 17668387, 19526370 and 20693550, which report patients with SUCLG1 variants.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Added comment: Comment on publications: PMID:27143079 article is in Chinese. See PMID:26028457 for a description of the same patients.
Early onset or syndromic epilepsy v0.787 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to 28358460; 27143079; 26028457; 27484306
Early onset or syndromic epilepsy v0.786 COL4A1 Sarah Leigh Publications for gene: COL4A1 were set to
Early onset or syndromic epilepsy v0.785 COL4A1 Sarah Leigh Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1: PMID:26028457 (Liu et al 2016) report 3 unrelated Chinese patients with severe psychomotor retardation, hypotonia, dystonia and athetoid movements, and homozygous/compound het variants in SUCLG1. Patient 2 had Epilepsy (Table 1).
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger commented on gene: SUCLG1
Early onset or syndromic epilepsy v0.784 SUCLG1 Rebecca Foulger Publications for gene: SUCLG1 were set to
Early onset or syndromic epilepsy v0.783 COL4A1 Sarah Leigh Mode of inheritance for gene: COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Marked gene: COL18A1 as ready
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 truncating variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Classified gene: COL18A1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.782 COL18A1 Sarah Leigh Gene: col18a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.781 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Early onset or syndromic epilepsy v0.780 SUCLG1 Rebecca Foulger Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.779 SUCLG1 Rebecca Foulger Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Early onset or syndromic epilepsy v0.778 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750
Early onset or syndromic epilepsy v0.777 COL18A1 Sarah Leigh Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Marked gene: CLN3 as ready
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Ductal plate malformation v0.32 RPGRIP1L Ivone Leong Publications for gene: RPGRIP1L were set to
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Classified gene: CLN3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.775 CLN3 Sarah Leigh Publications for gene: CLN3 were set to
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Classified gene: RPGRIP1L as Green List (high evidence)
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Added comment: Comment on list classification: RPGRIP1L is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes both Meckel syndrome (611561) and COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Ductal plate malformation v0.30 CC2D2A Ivone Leong Publications for gene: CC2D2A were set to
Ductal plate malformation v0.29 CC2D2A Ivone Leong Classified gene: CC2D2A as Green List (high evidence)
Ductal plate malformation v0.29 CC2D2A Ivone Leong Added comment: Comment on list classification: CC2D2A is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Ductal plate malformation v0.29 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.774 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 204200
Early onset or syndromic epilepsy v0.773 CLN3 Sarah Leigh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Marked gene: CLCN4 as ready
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. At least 2 variants reported in 3 unrelated cases in whom seizures are included in their phenotypic features. Supportive functional studies are also reported (PMID 27550844).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.772 CLCN4 Sarah Leigh Mode of inheritance for gene: CLCN4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.771 CLCN4 Sarah Leigh Publications for gene: CLCN4 were set to
Early onset or syndromic epilepsy v0.770 CLCN4 Sarah Leigh Phenotypes for gene: CLCN4 were changed from to Raynaud-Claes syndrome 300114; Mental retardation, X-linked 49/15
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Classified gene: CLCN4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.769 CLCN4 Sarah Leigh Gene: clcn4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.768 STRADA Sarah Leigh edited their review of gene: STRADA: Changed rating: GREEN
Early onset or syndromic epilepsy v0.768 CACNA1G Sarah Leigh edited their review of gene: CACNA1G: Changed rating: GREEN
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Marked gene: CCDC88A as ready
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Added comment: Comment when marking as ready: Insufficient evidence at present for gene to be green (13/11/2018)
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Tag watchlist tag was added to gene: CCDC88A.
Early onset or syndromic epilepsy v0.768 CCDC88A Sarah Leigh Phenotypes for gene: CCDC88A were changed from to ?PEHO syndrome-like 617507
Early onset or syndromic epilepsy v0.767 CCDC88A Sarah Leigh Publications for gene: CCDC88A were set to
Early onset or syndromic epilepsy v0.766 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.765 CCDC88A Sarah Leigh Mode of inheritance for gene: CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Marked gene: ADAT3 as ready
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Gene: adat3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.764 ADAT3 Sarah Leigh Phenotypes for gene: ADAT3 were changed from # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 to Mental retardation, autosomal recessive 36 615286
Ductal plate malformation v0.28 TMEM67 Ivone Leong commented on gene: TMEM67: TMEM67 also causes COACH syndrome (609884), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Marked gene: CASK as ready
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases with seizures included in their phenotype.
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Classified gene: CASK as Green List (high evidence)
Early onset or syndromic epilepsy v0.763 CASK Sarah Leigh Gene: cask has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.762 CASK Sarah Leigh Publications for gene: CASK were set to
Early onset or syndromic epilepsy v0.761 CASK Sarah Leigh Mode of inheritance for gene: CASK was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.760 CASK Sarah Leigh Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749; Mental retardation, with or without nystagmus 300422
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Tag watchlist tag was added to gene: CACNA2D2.
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Marked gene: CACNA2D2 as ready
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Both variant reported have been refuted in OMIM and are now listed as VUS, however, the mouse model reported in PMID 11487633 does provide some evidence for involvement of this gene in epilepsy.
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Gene: cacna2d2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.759 CACNA2D2 Sarah Leigh Publications for gene: CACNA2D2 were set to 24358150; 23339110; 11487633
Early onset or syndromic epilepsy v0.758 CACNA2D2 Sarah Leigh Phenotypes for gene: CACNA2D2 were changed from to Absence epilepsy
Early onset or syndromic epilepsy v0.757 CACNA2D2 Sarah Leigh Publications for gene: CACNA2D2 were set to
Early onset or syndromic epilepsy v0.756 CACNA2D2 Sarah Leigh Mode of inheritance for gene: CACNA2D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Marked gene: C12orf57 as ready
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in a total of 56 cases of which 41 had seizures as a phenotypic feature.
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Classified gene: C12orf57 as Green List (high evidence)
Early onset or syndromic epilepsy v0.755 C12orf57 Sarah Leigh Gene: c12orf57 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.754 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665
Early onset or syndromic epilepsy v0.753 C12orf57 Sarah Leigh Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340
Early onset or syndromic epilepsy v0.752 C12orf57 Sarah Leigh Publications for gene: C12orf57 were set to
Early onset or syndromic epilepsy v0.751 C12orf57 Sarah Leigh Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders v1.145 GBA Louise Daugherty commented on gene: GBA: Update from NIHRRD-BR BRIDGE they will no longer be reporting on this gene on their platform. After discussion with Genomics England Clinical team, as the MOI is listed as biallelic so we would only prioritise variants that are homozygous or compound het. A parent might be found to be a carrier, when their child has the condition but that is to be expected and would be useful information. Gaucher is associated with haematological manifestations as part of the wider syndromic phenotype.
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Marked gene: BTD as ready
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 18 cases of Biotinidase deficiency 253260 that include seizures as part of the phenotype.
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Classified gene: BTD as Green List (high evidence)
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.749 BTD Sarah Leigh Publications for gene: BTD were set to 24075304; 4073853; 3196050
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Marked gene: PET100 as ready
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Classified gene: PET100 as Green List (high evidence)
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Green rating agreed by Sarah Leigh. Seizures are a recognised phenotype of patients with Mitochondrial complex IV deficiency, which can be caused by variants in multiple genes, including PET100. 2 different PET100 variants reported so far in the literature (including a founder variant in Lebanese patients) in >3 unrelated individuals with seizures as a prominent phenotype (PMIDs24462369 and 23829769).
Early onset or syndromic epilepsy v0.748 PET100 Rebecca Foulger Gene: pet100 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Added comment: Comment on publications: PMID 24075304 mouse model, with seizures, PMIDs 4073853;3196050, seizures in patients
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Publications for gene: BTD were set to
Early onset or syndromic epilepsy v0.746 BTD Sarah Leigh Mode of inheritance for gene: BTD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.745 BTD Sarah Leigh Phenotypes for gene: BTD were changed from to Biotinidase deficiency 253260
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Marked gene: BRAF as ready
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Cardiofaciocutaneous syndrome 115150 & LEOPARD syndrome 3 613707. PMID 18039946 reported seizures in around half of their genetically confirmed Cardiofaciocutaneous syndrome 115150 cases (n=38) and PMID 19206169 reports 11 variants in 9 cases of Cardiofaciocutaneous syndrome 115150, 2 cases of Noonan syndrome 7 613706 and one case of LEOPARD syndrome 3 613707.
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Gene: braf has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Classified gene: BRAF as Green List (high evidence)
Early onset or syndromic epilepsy v0.744 BRAF Sarah Leigh Gene: braf has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.743 BRAF Sarah Leigh Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707 to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger commented on gene: PET100: Added 'founder effect' tag based on PMID:24462369 who identified a founder variant in patients of Lebanese descent.
Early onset or syndromic epilepsy v0.742 PET100 Rebecca Foulger Tag founder-effect tag was added to gene: PET100.
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Marked gene: SURF1 as ready
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Classified gene: SURF1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Leigh syndrome and Complex IV deficiency, which can present with seizures. Seizures are a recognised phenotype for Leigh syndrome, although not necessarily in LS patients caused by SURF1 variants (PMID:24462369). However, in their multi-centre study, PMID:24462369 report sufficient cases of SURF1-deficient patients with seizures (6 of 44) for inclusion on this panel.
Early onset or syndromic epilepsy v0.742 SURF1 Rebecca Foulger Gene: surf1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: PMID:28273704 found SURF1 variants in 10 Leigh syndrome patients, making it the most common variation in this study. The most common primary symptoms of patients include seizures. The article is in Chinese so the full article can not be curated at this time.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger commented on gene: SURF1: Wedatilake et al. 2013 (PMID:23829769) conducted a study of 44 SURF1-deficient patients from 37 pedigrees from 10 different UK centres and two Australian centres. Seizures were found in 14% of patients (6 patients).
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Added comment: Comment on publications: PMID:24462369 state that seizures aren't a prominent feature of individuals with SURF1 variants.
Early onset or syndromic epilepsy v0.741 SURF1 Rebecca Foulger Publications for gene: SURF1 were set to
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger commented on gene: PET100: PMID:23829769 report a female patient born to British Pakistani parents with seizures beginning at 48 hours old. She died age 55 hours. She had a pathogenic homozygous nonsense variant in the PET100 gene (c.142C>T, p.Gln48*).
Early onset or syndromic epilepsy v0.740 PET100 Rebecca Foulger Publications for gene: PET100 were set to 24462369
Early onset or syndromic epilepsy v0.739 BRAF Sarah Leigh Added comment: Comment on mode of pathogenicity: Activating variants responsible for phenotype
Early onset or syndromic epilepsy v0.739 BRAF Sarah Leigh Mode of pathogenicity for gene: BRAF was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.738 PET100 Rebecca Foulger Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.737 PET100 Rebecca Foulger Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, 220110; seizures
Intellectual disability v2.531 NFIB Konstantinos Varvagiannis gene: NFIB was added
gene: NFIB was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIB were set to 30388402
Phenotypes for gene: NFIB were set to Global developmental delay; Intellectual disability; Macrocephaly
Penetrance for gene: NFIB were set to unknown
Review for gene: NFIB was set to GREEN
Added comment: Schanze et al. (PMID: 30388402) report on the phenotype related to NFIB haploinsufficiency.

10 individuals with intragenic NFIB or larger deletions encompassing also other genes as well as 8 individuals with nucleotide variants (5 loss-of-function and 3 missense ones) are described.

Intellectual disability was a universal feature while macrocephaly was noted in the majority of the patients. The phenotype of individuals deletions was similar to the phenotype of intragenic mutations as also seems to be the case with the degree of ID.

Functional studies support loss of function for the pathogenic missense variants reported. Cortical-specific knockout of Nfib in mice results in enlargement of the cortex.

While most of the variants occurred as de novo events, a few individuals had inherited a variant (deletion or nucleotide variant) from a similarly affected parent.

As a result, this gene can be considered for inclusion in the ID panel as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.736 PET100 Rebecca Foulger commented on gene: PET100
Early onset or syndromic epilepsy v0.736 BRAF Sarah Leigh Publications for gene: BRAF were set to
Early onset or syndromic epilepsy v0.735 BRAF Sarah Leigh Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome 115150; LEOPARD syndrome 3 613707
Early onset or syndromic epilepsy v0.734 BRAF Sarah Leigh Mode of inheritance for gene: BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Classified gene: BOLA3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Gene: bola3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Marked gene: BOLA3 as ready
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least one truncating variant reported in 2 ethnically diverse unrelated cases of Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299. Supportive in vitro studies show are also presented (PMID 24334290).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Gene: bola3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Mode of inheritance for gene: BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.731 PET100 Rebecca Foulger Publications for gene: PET100 were set to
Early onset or syndromic epilepsy v0.730 BOLA3 Sarah Leigh Publications for gene: BOLA3 were set to
Early onset or syndromic epilepsy v0.729 SURF1 Rebecca Foulger Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.728 SURF1 Rebecca Foulger Phenotypes for gene: SURF1 were changed from to Leigh syndrome, due to COX IV deficiency, 256000
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.727 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Marked gene: TBC1D20 as ready
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Tag watchlist tag was added to gene: TBC1D20.
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Classified gene: TBC1D20 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Variants in TBC1D20 are currently probable in DD-G2P for causing Warburg micro syndrome 4. Warburg micro syndrome 4 can present with seizures, but currently only 2 unrelated families reported in PMID:24239381 (including febrile seizures in 1 patient). Therefore require further epileptic cases before rating as diagnostic.
Early onset or syndromic epilepsy v0.726 TBC1D20 Rebecca Foulger Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.725 TBC1D20 Rebecca Foulger Phenotypes for gene: TBC1D20 were changed from Warburg micro syndrome 4, MIM#615663; seizures to Warburg micro syndrome 4, 615663; seizures
Early onset or syndromic epilepsy v0.724 TBC1D20 Rebecca Foulger Phenotypes for gene: TBC1D20 were changed from to Warburg micro syndrome 4, MIM#615663; seizures
Early onset or syndromic epilepsy v0.723 TBC1D20 Rebecca Foulger commented on gene: TBC1D20
Early onset or syndromic epilepsy v0.723 TBC1D20 Rebecca Foulger Publications for gene: TBC1D20 were set to
Early onset or syndromic epilepsy v0.722 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Marked gene: BCS1L as ready
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for GRACILE syndrome 603358. At least 5 variants reported in 3 unrelated cases.
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Classified gene: BCS1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.721 BCS1L Sarah Leigh Gene: bcs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.720 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000; GRACILE syndrome 603358
Early onset or syndromic epilepsy v0.719 BCS1L Sarah Leigh Publications for gene: BCS1L were set to
Early onset or syndromic epilepsy v0.718 TBC1D20 Rebecca Foulger Mode of inheritance for gene: TBC1D20 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Marked gene: TBCD as ready
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Classified gene: TBCD as Green List (high evidence)
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review. Confirmed DD-G2P gene for Early-Onset Neurodegenerative Encephalopathy, which can present with seizures. Sufficient cases of seizures (>3) in PMID:27666370 and PMID:27666374 for inclusion on panel.
Early onset or syndromic epilepsy v0.717 TBCD Rebecca Foulger Gene: tbcd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.716 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures; West syndrome
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD: In 8 children from 4 unrelated families, Miyake et al (PMID:27666374) identified homozygous or compound het variants in TBCD. Seizures were reported in 3 families (Table 2) and were reported as GTS (Chinese family 3), GTS/GTCS (Israel family 4) and West syndrome/cataplexy (Japanese Family 2).
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger commented on gene: TBCD
Ductal plate malformation v0.28 Ivone Leong Panel status changed from internal to public
Early onset or syndromic epilepsy v0.715 TBCD Rebecca Foulger Mode of inheritance for gene: TBCD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.714 TBCD Rebecca Foulger Publications for gene: TBCD were set to
Early onset or syndromic epilepsy v0.713 TBCD Rebecca Foulger Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193; seizures
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Marked gene: TBCK as ready
Early onset or syndromic epilepsy v0.712 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Added comment: Comment on phenotypes: Both of these phenotypes include seizures as part of their phenotypic features
Early onset or syndromic epilepsy v0.712 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from Mitochondrial complex III deficiency, nuclear type 1 124000 to Mitochondrial complex III deficiency, nuclear type 1 124000; Leigh syndrome 256000
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Classified gene: TBCK as Green List (high evidence)
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus confirmed DD-G2P gene for Severe Infantile Syndromic Encephalopathy, which can present with seizures. Sufficient (>3) unrelated cases of seizures in PMID:27040692 and PMID:27040691 for inclusion on panel.
Early onset or syndromic epilepsy v0.711 TBCK Rebecca Foulger Gene: tbck has been classified as Green List (High Evidence).
Congenital hyperinsulinism v1.3 Ellen McDonagh Panel name changed from Hyperinsulinism to Congenital hyperinsulinism
List of related panels changed from to Hyperinsulinism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.710 BCS1L Sarah Leigh Phenotypes for gene: BCS1L were changed from to Mitochondrial complex III deficiency, nuclear type 1 124000
Inherited phaeochromocytoma and paraganglioma v1.3 Ellen McDonagh Panel name changed from Neuro-endocrine Tumours- PCC and PGL to Inherited phaeochromocytoma and paraganglioma
List of related panels changed from to Neuro-endocrine Tumours- PCC and PGL
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.709 BCS1L Sarah Leigh Mode of inheritance for gene: BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK: Bhoj et al. (2016, PMID:27040691) reported 13 patients from 9 unrelated families with IHPRF. Seven individuals from five families had seizures, and biallelic variants in TBCK.
Multiple endocrine tumours v1.6 Ellen McDonagh Panel name changed from Multiple endocrine tumours to Multiple endocrine neoplasia type 1
List of related panels changed from to Multiple endocrine tumours
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger commented on gene: TBCK
Early onset or syndromic epilepsy v0.708 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900; seizures
Early onset or syndromic epilepsy v0.707 TBCK Rebecca Foulger Publications for gene: TBCK were set to
Hypogonadotropic hypogonadism v1.15 Ellen McDonagh Panel name changed from Idiopathic hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism
List of related panels changed from Kallmann syndrome; Kallmann syndrom to Kallmann syndrome; Kallmann syndrom; Idiopathic hypogonadotropic hypogonadism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial hypoparathyroidism v1.7 Ellen McDonagh Panel name changed from Familial or syndromic hypoparathyroidism to Familial hypoparathyroidism
List of related panels changed from to Familial or syndromic hypoparathyroidism
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Congenital adrenal hypoplasia v1.6 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Marked gene: BCKDHB as ready
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 5 unrelated cases of Maple syrup urine disease, Classic type Ib 248600.
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
Severe early-onset obesity v1.6 Ellen McDonagh Panel name changed from Significant early-onset obesity +/- other endocrine features and short stature to Severe early-onset obesity
List of related panels changed from Significant early-onset obesity with or without other endocrine features and short stature to Significant early-onset obesity with or without other endocrine features and short stature; Significant early-onset obesity +/- other endocrine features and short stature
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ib 248600
Early onset or syndromic epilepsy v0.706 BCKDHB Sarah Leigh Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib 248600 to Maple syrup urine disease, type Ib 248600
Early onset or syndromic epilepsy v0.705 BCKDHB Sarah Leigh Classified gene: BCKDHB as Green List (high evidence)
Early onset or syndromic epilepsy v0.705 BCKDHB Sarah Leigh Gene: bckdhb has been classified as Green List (High Evidence).
Differences in sex development v1.25 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.704 BCKDHB Sarah Leigh Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib 248600
Hyperthyroidism v1.5 Ellen McDonagh Panel name changed from Resistance to thyroid hormone to Hyperthyroidism
List of related panels changed from to Resistance to thyroid hormone
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.703 TBCK Rebecca Foulger Mode of inheritance for gene: TBCK was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.702 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
Early onset or syndromic epilepsy v0.701 BCKDHB Sarah Leigh Mode of inheritance for gene: BCKDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.700 TBCK Rebecca Foulger Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,616900
Monogenic hearing loss v1.49 Ellen McDonagh List of related panels changed from Congenital hearing impairment;Autosomal dominant deafness;Congenital hearing impairment (profound/severe) to Congenital hearing impairment; Autosomal dominant deafness; Congenital hearing impairment (profound/severe)
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Marked gene: BCKDHA as ready
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in unrelated cases of Maple syrup urine disease, Classic type Ia 248600.
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
Monogenic hearing loss v1.48 Ellen McDonagh Panel name changed from Congenital hearing impairment (profound/severe) to Hearing loss
List of related panels changed from Congenital hearing impairment; Autosomal dominant deafness to Congenital hearing impairment;Autosomal dominant deafness;Congenital hearing impairment (profound/severe)
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Classified gene: BCKDHA as Green List (high evidence)
Early onset or syndromic epilepsy v0.699 BCKDHA Sarah Leigh Gene: bckdha has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.698 BCKDHA Sarah Leigh Added comment: Comment on phenotypes: Seizures are a feature of Maple syrup urine disease, Classic type Ia 248600
Early onset or syndromic epilepsy v0.698 BCKDHA Sarah Leigh Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia 248600 to Maple syrup urine disease, type Ia 248600
Early onset or syndromic epilepsy v0.697 BCKDHA Sarah Leigh Publications for gene: BCKDHA were set to
Ductal plate malformation v0.27 PKD1 Ivone Leong Source Expert Review Green was added to PKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ductal plate malformation v0.27 STN1 Ivone Leong Source Expert Review Amber was added to STN1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 PEX14 Ivone Leong Source Expert Review Red was added to PEX14.
Ductal plate malformation v0.27 PEX1 Ivone Leong Source Expert Review Amber was added to PEX1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 NOTCH2 Ivone Leong Source Expert Review Amber was added to NOTCH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 JAG1 Ivone Leong Source Expert Review Amber was added to JAG1.
Ductal plate malformation v0.27 HOGA1 Ivone Leong Source Expert Review Red was added to HOGA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 GRHPR Ivone Leong Source Expert Review Red was added to GRHPR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 EYA1 Ivone Leong Source Expert Review Red was added to EYA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CPT2 Ivone Leong Source Expert Review Red was added to CPT2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CLDN19 Ivone Leong Source Expert Review Red was added to CLDN19.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CLDN16 Ivone Leong Source Expert Review Red was added to CLDN16.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 BSND Ivone Leong Source Expert Review Red was added to BSND.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 BICC1 Ivone Leong Source Expert Review Red was added to BICC1.
Ductal plate malformation v0.27 TERC Ivone Leong Source Expert Review Amber was added to TERC.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 RTEL1 Ivone Leong Source Expert Review Amber was added to RTEL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 WRAP53 Ivone Leong Source Expert Review Red was added to WRAP53.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 TERT Ivone Leong Source Expert Review Amber was added to TERT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 NOP10 Ivone Leong Source Expert Review Red was added to NOP10.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 TINF2 Ivone Leong Source Expert Review Red was added to TINF2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DKC1 Ivone Leong Source Expert Review Red was added to DKC1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DGUOK Ivone Leong Source Expert Review Amber was added to DGUOK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 TMEM67 Ivone Leong Source Expert Review Green was added to TMEM67.
Ductal plate malformation v0.27 SEC61B Ivone Leong Source Expert Review Amber was added to SEC61B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 RSPH9 Ivone Leong Source Expert Review Red was added to RSPH9.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 RSPH4A Ivone Leong Source Expert Review Red was added to RSPH4A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 REN Ivone Leong Source Expert Review Red was added to REN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 PKHD1 Ivone Leong Source Expert Review Green was added to PKHD1.
Ductal plate malformation v0.27 NME8 Ivone Leong Source Expert Review Red was added to NME8.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 LRP5 Ivone Leong Source Expert Review Green was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ductal plate malformation v0.27 GANAB Ivone Leong Source Expert Review Green was added to GANAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ductal plate malformation v0.27 DNAL1 Ivone Leong Source Expert Review Red was added to DNAL1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAI2 Ivone Leong Source Expert Review Red was added to DNAI2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAI1 Ivone Leong Source Expert Review Red was added to DNAI1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAH5 Ivone Leong Source Expert Review Red was added to DNAH5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAH11 Ivone Leong Source Expert Review Red was added to DNAH11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF3 Ivone Leong Source Expert Review Red was added to DNAAF3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF2 Ivone Leong Source Expert Review Red was added to DNAAF2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF1 Ivone Leong Source Expert Review Red was added to DNAAF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CCDC40 Ivone Leong Source Expert Review Red was added to CCDC40.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CCDC39 Ivone Leong Source Expert Review Red was added to CCDC39.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ductal plate malformation v0.27 B9D1 Ivone Leong Source Expert Review Green was added to B9D1.
Ductal plate malformation v0.27 ALG8 Ivone Leong Source Expert Review Green was added to ALG8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ductal plate malformation v0.27 AGT Ivone Leong Source Expert Review Red was added to AGT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Early onset or syndromic epilepsy v0.696 BCKDHA Sarah Leigh Mode of inheritance for gene: BCKDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.531 PCGF2 Louise Daugherty edited their review of gene: PCGF2: Changed rating: GREEN
Early onset or syndromic epilepsy v0.695 BCKDHA Sarah Leigh Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia 248600
Primary lymphoedema v1.31 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial hypercholesterolaemia v1.20 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Ductal plate malformation v0.26 PKD1 Ivone Leong reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554072; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 STN1 Ivone Leong reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PEX14 Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: 15146459; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PEX1 Ivone Leong reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12032265; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 JAG1 Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 HOGA1 Ivone Leong reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 GRHPR Ivone Leong reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 EYA1 Ivone Leong reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CPT2 Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CLDN19 Ivone Leong reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CLDN16 Ivone Leong reviewed gene: CLDN16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 BSND Ivone Leong reviewed gene: BSND: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 BICC1 Ivone Leong reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: 21922595; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TERC Ivone Leong reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341970, 21436073, 19936245; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RTEL1 Ivone Leong reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28495916; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 WRAP53 Ivone Leong reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TERT Ivone Leong reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: 19936245, 21483807, 21436073; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NOP10 Ivone Leong reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TINF2 Ivone Leong reviewed gene: TINF2: Rating: RED; Mode of pathogenicity: ; Publications: 21477109; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DKC1 Ivone Leong reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30234759, 11687800, 12210798, 25129007 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TMEM67 Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 SEC61B Ivone Leong reviewed gene: SEC61B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28862642; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RSPH9 Ivone Leong reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RSPH4A Ivone Leong reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 REN Ivone Leong reviewed gene: REN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PKHD1 Ivone Leong reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 11337358, 11135065; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NME8 Ivone Leong reviewed gene: NME8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 LRP5 Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25920554; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 GANAB Ivone Leong reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 27259053, 29243290 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAL1 Ivone Leong reviewed gene: DNAL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAI2 Ivone Leong reviewed gene: DNAI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAI1 Ivone Leong reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAH5 Ivone Leong reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAH11 Ivone Leong reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF3 Ivone Leong reviewed gene: DNAAF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF2 Ivone Leong reviewed gene: DNAAF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF1 Ivone Leong reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CCDC40 Ivone Leong reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CCDC39 Ivone Leong reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 B9D1 Ivone Leong reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21493627, 21763481; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 ALG8 Ivone Leong reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 15235028, 28375157 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 AGT Ivone Leong reviewed gene: AGT: Rating: RED; Mode of pathogenicity: ; Publications: 16116425, 17036344; Phenotypes: ; Mode of inheritance:
Thoracic aortic aneurysm or dissection v1.76 Ellen McDonagh Panel name changed from Familial Thoracic Aortic Aneurysm Disease to Thoracic aortic aneurysm or dissection
List of related panels changed from Familial retinal arteriolar tortuosity; FTAAD to Familial retinal arteriolar tortuosity;FTAAD;Familial Thoracic Aortic Aneurysm Disease
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Mitochondrial disorders v1.69 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Severe microcephaly v1.38 Ellen McDonagh Panel name changed from Primary Microcephaly - Microcephalic Dwarfism Spectrum to Severe microcephaly
List of related panels changed from to Primary Microcephaly - Microcephalic Dwarfism Spectrum
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Marked gene: ATP7A as ready
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases of Menkes disease 309400 with seizures.
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Classified gene: ATP7A as Green List (high evidence)
Early onset or syndromic epilepsy v0.694 ATP7A Sarah Leigh Gene: atp7a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.693 ATP7A Sarah Leigh Publications for gene: ATP7A were set to
Hydrocephalus v1.23 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Holoprosencephaly - NOT chromosomal v1.5 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.692 ATP7A Sarah Leigh Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.691 ATP7A Sarah Leigh Phenotypes for gene: ATP7A were changed from to Menkes disease 309400
Intellectual disability v2.531 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Neonatal diabetes v1.8 Ellen McDonagh Panel name changed from Neonatal diabetes diagnosed <6 months to Diabetes - neonatal onset
List of related panels changed from Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes to Neonatal diabetes (diagnosed less than 6 months);Neonatal diabetes;Neonatal diabetes diagnosed <6 months
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Skeletal dysplasia v1.128 Ellen McDonagh Panel name changed from Unexplained skeletal dysplasia to Skeletal dysplasia
List of related panels changed from Skeletal dysplasia to Unexplained skeletal dysplasia
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Marked gene: SMS as ready
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in unrelated cases of Mental retardation, X-linked, Snyder-Robinson type 309583 manifesting seizures.
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Gene: sms has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Classified gene: SMS as Green List (high evidence)
Early onset or syndromic epilepsy v0.690 SMS Sarah Leigh Gene: sms has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.689 SMS Sarah Leigh Publications for gene: SMS were set to
Early onset or syndromic epilepsy v0.688 SMS Sarah Leigh Phenotypes for gene: SMS were changed from to Mental retardation, X-linked, Snyder-Robinson type 309583
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Marked gene: PCDH12 as ready
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 truncating variants identified, one variant has been shown to be a founder in four consanguineous Palestinian Israeli families following haplotype analysis, however, functional studies demonstrate nonsense-mediated mRNA decay and likely a complete loss of function in the cells from one affected family member (PMID 27164683). The other two variants were found as compound heterozygotes in a Japanese patient with dyskinetic cerebral palsy and epilepsy (PMID 28804758).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Classified gene: PCDH12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.686 SMS Sarah Leigh Mode of inheritance for gene: SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.685 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.25 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2 (227646)
Ductal plate malformation v0.25 STN1 Ivone Leong gene: STN1 was added
gene: STN1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
Ductal plate malformation v0.25 SLC4A1 Ivone Leong gene: SLC4A1 was added
gene: SLC4A1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR (611590); Renal tubular acidosis, distal, AD (179800)
Ductal plate malformation v0.25 SLC41A1 Ivone Leong gene: SLC41A1 was added
gene: SLC41A1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: SLC41A1 was set to Unknown
Phenotypes for gene: SLC41A1 were set to No OMIM
Ductal plate malformation v0.25 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (263800)
Ductal plate malformation v0.25 SIX5 Ivone Leong gene: SIX5 was added
gene: SIX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2 (610896)
Ductal plate malformation v0.25 PKD1L1 Ivone Leong gene: PKD1L1 was added
gene: PKD1L1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal (617205)
Ductal plate malformation v0.25 PEX7 Ivone Leong gene: PEX7 was added
gene: PEX7 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B (614879)
Ductal plate malformation v0.25 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (614862); Peroxisome biogenesis disorder 4B (614863)
Ductal plate malformation v0.25 PEX5 Ivone Leong gene: PEX5 was added
gene: PEX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B (202370); Peroxisome biogenesis disorder 2A (Zellweger) (214110)
Ductal plate malformation v0.25 PEX3 Ivone Leong gene: PEX3 was added
gene: PEX3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to ?Peroxisome biogenesis disorder 10B (617370); Peroxisome biogenesis disorder 10A (Zellweger) (614882)
Ductal plate malformation v0.25 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) (614872); Peroxisome biogenesis disorder 7B (614873)
Ductal plate malformation v0.25 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) (614866); Peroxisome biogenesis disorder 5B (614867)
Ductal plate malformation v0.25 PEX19 Ivone Leong gene: PEX19 was added
gene: PEX19 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) (614886)
Ductal plate malformation v0.25 PEX16 Ivone Leong gene: PEX16 was added
gene: PEX16 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) (614876); Peroxisome biogenesis disorder 8B (614877)
Ductal plate malformation v0.25 PEX14 Ivone Leong gene: PEX14 was added
gene: PEX14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) (614887)
Ductal plate malformation v0.25 PEX13 Ivone Leong gene: PEX13 was added
gene: PEX13 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B (614885); Peroxisome biogenesis disorder 11A (Zellweger) (614883)
Ductal plate malformation v0.25 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B (266510); Peroxisome biogenesis disorder 3A (Zellweger) (614859)
Ductal plate malformation v0.25 PEX11B Ivone Leong gene: PEX11B was added
gene: PEX11B was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (614920)
Ductal plate malformation v0.25 PEX10 Ivone Leong gene: PEX10 was added
gene: PEX10 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (614870); Peroxisome biogenesis disorder 6B (614871)
Ductal plate malformation v0.25 PEX1 Ivone Leong gene: PEX1 was added
gene: PEX1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD) (601539); Peroxisome biogenesis disorder 1A (Zellweger) (214100)
Ductal plate malformation v0.25 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7 (616002); Papillorenal syndrome (120330)
Ductal plate malformation v0.25 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 (610205)
Ductal plate malformation v0.25 MRE11 Ivone Leong gene: MRE11 was added
gene: MRE11 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder 1 (604391)
Ductal plate malformation v0.25 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to Alagille syndrome 1 (118450)
Ductal plate malformation v0.25 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (613616)
Ductal plate malformation v0.25 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (260000)
Ductal plate malformation v0.25 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1 (602588); Branchiootorenal syndrome 1, with or without cataracts (113650)
Ductal plate malformation v0.25 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836)
Ductal plate malformation v0.25 CLDN19 Ivone Leong gene: CLDN19 was added
gene: CLDN19 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement (248190)
Ductal plate malformation v0.25 CLDN16 Ivone Leong gene: CLDN16 was added
gene: CLDN16 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN16 were set to Hypomagnesemia 3, renal (248250)
Ductal plate malformation v0.25 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to Ductal plate malformation (DPM). Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CLCNKB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090)
Ductal plate malformation v0.25 CCND1 Ivone Leong gene: CCND1 was added
gene: CCND1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: CCND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND1 were set to {von Hippel-Lindau syndrome, modifier of} (193300); {Colorectal cancer, susceptibility to} (114500)
Ductal plate malformation v0.25 BSND Ivone Leong gene: BSND was added
gene: BSND was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a (602522); Sensorineural deafness with mild renal dysfunction (602522)
Ductal plate malformation v0.25 BICC1 Ivone Leong gene: BICC1 was added
gene: BICC1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: BICC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to} (601331)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.41 Ellen McDonagh Panel name changed from Craniosynostosis syndromes phenotypes to Craniosynostosis
List of related panels changed from Craniosynostosis syndromes to Craniosynostosis syndromes;Craniosynostosis syndromes phenotypes
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Early onset or syndromic epilepsy v0.685 PCDH12 Sarah Leigh Phenotypes for gene: PCDH12 were changed from intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities to Microcephaly, seizures, spasticity, and brain calcification 251280
Early onset or syndromic epilepsy v0.684 PCDH12 Sarah Leigh Publications for gene: PCDH12 were set to 27164683
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Marked gene: MFSD8 as ready
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in cases of Ceroid lipofuscinosis, neuronal, 7 610951 with seizures.
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Paediatric disorders - additional genes v0.2 Ellen McDonagh Panel status changed from public to internal
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Classified gene: MFSD8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.683 MFSD8 Sarah Leigh Gene: mfsd8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.682 MFSD8 Sarah Leigh Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.681 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951
Ductal plate malformation v0.24 TXNDC15 Ivone Leong Source Expert Review Removed was added to TXNDC15.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM107 Ivone Leong Source Expert Review Removed was added to TMEM107.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 TCTEX1D2 Ivone Leong Source Expert Review Removed was added to TCTEX1D2.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 MAPKBP1 Ivone Leong Source Expert Review Removed was added to MAPKBP1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 KIAA0586 Ivone Leong Source Expert Review Removed was added to KIAA0586.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 IFT52 Ivone Leong Source Expert Review Removed was added to IFT52.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 DYNC2LI1 Ivone Leong Source Expert Review Removed was added to DYNC2LI1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 DDX59 Ivone Leong Source Expert Review Removed was added to DDX59.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 CSPP1 Ivone Leong Source Expert Review Removed was added to CSPP1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 ALMS1 Ivone Leong Source Expert Review Removed was added to ALMS1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 WDR34 Ivone Leong Source Expert Review Removed was added to WDR34.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM231 Ivone Leong Source Expert Review Removed was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 INVS Ivone Leong Source Expert Review Removed was added to INVS.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT172 Ivone Leong Source Expert Review Removed was added to IFT172.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT140 Ivone Leong Source Expert Review Removed was added to IFT140.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT122 Ivone Leong Source Expert Review Removed was added to IFT122.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 HYLS1 Ivone Leong Source Expert Review Removed was added to HYLS1.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 EVC2 Ivone Leong Source Expert Review Removed was added to EVC2.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 EVC Ivone Leong Source Expert Review Removed was added to EVC.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 CEP83 Ivone Leong Source Expert Review Removed was added to CEP83.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 CEP120 Ivone Leong Source Expert Review Removed was added to CEP120.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 C2CD3 Ivone Leong Source Expert Review Removed was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 ANKS6 Ivone Leong Source Expert Review Removed was added to ANKS6.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 TTC21B Ivone Leong Source Expert Review Removed was added to TTC21B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM237 Ivone Leong Source Expert Review Removed was added to TMEM237.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN3 Ivone Leong Source Expert Review Removed was added to TCTN3.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 OFD1 Ivone Leong Source Expert Review Removed was added to OFD1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 KIF7 Ivone Leong Source Expert Review Removed was added to KIF7.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 IQCB1 Ivone Leong Source Expert Review Removed was added to IQCB1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 INPP5E Ivone Leong Source Expert Review Removed was added to INPP5E.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 IFT80 Ivone Leong Source Expert Review Removed was added to IFT80.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP164 Ivone Leong Source Expert Review Removed was added to CEP164.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS5 Ivone Leong Source Expert Review Removed was added to BBS5.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 ARL13B Ivone Leong Source Expert Review Removed was added to ARL13B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 WDR35 Ivone Leong Source Expert Review Removed was added to WDR35.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 WDPCP Ivone Leong Source Expert Review Removed was added to WDPCP.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TTC8 Ivone Leong Source Expert Review Removed was added to TTC8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM216 Ivone Leong Source Expert Review Removed was added to TMEM216.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM138 Ivone Leong Source Expert Review Removed was added to TMEM138.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN2 Ivone Leong Source Expert Review Removed was added to TCTN2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN1 Ivone Leong Source Expert Review Removed was added to TCTN1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 SDCCAG8 Ivone Leong Source Expert Review Removed was added to SDCCAG8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 RPGRIP1L Ivone Leong Source Expert Review Removed was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP4 Ivone Leong Source Expert Review Removed was added to NPHP4.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP3 Ivone Leong Source Expert Review Removed was added to NPHP3.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP1 Ivone Leong Source Expert Review Removed was added to NPHP1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NEK8 Ivone Leong Source Expert Review Removed was added to NEK8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NEK1 Ivone Leong Source Expert Review Removed was added to NEK1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 MKS1 Ivone Leong Source Expert Review Removed was added to MKS1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 MKKS Ivone Leong Source Expert Review Removed was added to MKKS.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 HNF1B Ivone Leong Source Expert Review Removed was added to HNF1B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 DYNC2H1 Ivone Leong Source Expert Review Removed was added to DYNC2H1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP41 Ivone Leong Source Expert Review Removed was added to CEP41.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP104 Ivone Leong Source Expert Review Removed was added to CEP104.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 CEP290 Ivone Leong Source Expert Review Removed was added to CEP290.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CC2D2A Ivone Leong Source Expert Review Removed was added to CC2D2A.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 C5orf42 Ivone Leong Source Expert Review Removed was added to C5orf42.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS9 Ivone Leong Source Expert Review Removed was added to BBS9.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS7 Ivone Leong Source Expert Review Removed was added to BBS7.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS4 Ivone Leong Source Expert Review Removed was added to BBS4.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS2 Ivone Leong Source Expert Review Removed was added to BBS2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS12 Ivone Leong Source Expert Review Removed was added to BBS12.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS10 Ivone Leong Source Expert Review Removed was added to BBS10.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS1 Ivone Leong Source Expert Review Removed was added to BBS1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 B9D2 Ivone Leong Source Expert Review Removed was added to B9D2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 ARL6 Ivone Leong Source Expert Review Removed was added to ARL6.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 AHI1 Ivone Leong Source Expert Review Removed was added to AHI1.
Rating Changed from Green List (high evidence) to No List (delete)
Early onset or syndromic epilepsy v0.680 MFSD8 Sarah Leigh Publications for gene: MFSD8 were set to
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh commented on gene: ALG8: Associated with Congenital disorder of glycosylation, type Ih 608104 in OMIM and as confirmed Gen2Phen, however, neither resource recorded seizures among the phenotypic features. Variants have been reported in at least 13 cases carrying biallelic ALG8 variants PMIDs 26066342 & 19688606.
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Classified gene: ALG8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Added comment: Comment on list classification: Based on evidence in publications 26066342 & 19688606
Early onset or syndromic epilepsy v0.679 ALG8 Sarah Leigh Gene: alg8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.678 ALG8 Sarah Leigh Phenotypes for gene: ALG8 were changed from to Congenital disorder of glycosylation, type Ih 608104
Early onset or syndromic epilepsy v0.677 ALG8 Sarah Leigh Publications for gene: ALG8 were set to
Intellectual disability v2.530 DCPS Konstantinos Varvagiannis gene: DCPS was added
gene: DCPS was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCPS were set to 25712129; 25701870; 30289615
Phenotypes for gene: DCPS were set to Al-Raqad syndrome (OMIM 616459)
Penetrance for gene: DCPS were set to Complete
Review for gene: DCPS was set to GREEN
gene: DCPS was marked as current diagnostic
Added comment: Biallelic pathogenic DCPS variants cause Al-Raqad syndrome (OMIM 616459).

7 patients from 3 families have been reported to date, all summarized in PMID 30289615 (first reports on the disorder - PMIDs : 25712129, 25701870).

Most individuals belong to consanguineous families although a compound heterozygous patient belonging to a broader consanguineous family (in PMID 25701870) and a further individual was born to unrelated parents originating from the same region (in PMID 30289615) have been described.

Overall, 2 splice site and 2 missense variants have been reported. Functional studies were carried out and support pathogenicity of the variants in the first 2 studies.

Developmental delay and intellectual disability are universal features.

DCPS is included in gene panels for intellectual disability offered by different diagnostic labs.

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Ductal plate malformation v0.23 Ivone Leong Panel status changed from public to internal
Intellectual disability v2.530 CHD3 Konstantinos Varvagiannis gene: CHD3 was added
gene: CHD3 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD3 were set to 30397230
Phenotypes for gene: CHD3 were set to Global developmental delay; Intellectual disability; Macrocephaly
Penetrance for gene: CHD3 were set to unknown
Review for gene: CHD3 was set to GREEN
Added comment: PMID 30397230 is a collaborative study reporting on the phenotype of 35 individuals including 4 subjects from the DDD study, (most) with de novo mutations in CHD3.

Common features include developmental delay, variable degrees of intellectual disability, impaired speech and language (all 3 were universal features) as well as macrocephaly (in approximately 60%) or vision problems. Widely spaced eyes and high/broad/prominent forehead were among the most constant facial features (noted in around 80% each).

The majority of the variants reported are missense and cluster within the helicase domain although exceptions of missense variants in other domains or loss-of-function variants are provided. A few variants were recurrent and/or concerned the same residue.

Two pairs of affected siblings are reported, in one case this was explained by maternal mosaicism for the mutation.

Perturbed ATPase and/or chromatin remodeling activity relative to wild-type were demonstrated although both gain and loss of these activities were noted depending on the variant tested.

CHD3 is intolerant to both loss-of-function and missense variants (pLI of 1.0 and Z-score of +7.15).

As a result this gene can be considered for inclusion in the ID panel as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.676 RHOBTB2 Konstantinos Varvagiannis gene: RHOBTB2 was added
gene: RHOBTB2 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004; 29768694; 26740508
Phenotypes for gene: RHOBTB2 were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly
Penetrance for gene: RHOBTB2 were set to unknown
Mode of pathogenicity for gene: RHOBTB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RHOBTB2 was set to GREEN
Added comment: PMID: 29276004 reports on 10 unrelated patients with de novo pathogenic missense variants in RHOBTB2. The phenotype in all individuals was compatible with a developmental and epileptic encephalopathy including early-onset seizures, severe intellectual disability, postnatal onset microcephaly (6/10) and movement disorders (8/10).

The variants occured as de novo events and clustered within the BTB-domain encoding region (within and between the 2 BTB domains). Three missense variants were recurrent and/or concerned the same residue (p.Arg483His in 4 individuals, Arg511Gln was reported in 2, and Arg511Trp was was found in another 2 individuals).

Functional studies in HEK293 cells suggested increased abundance of the mutant protein secondary to decreased proteasome degradation. Using Drosophila as a model organism, altered expression of RhoBTB (the single ortholog of the 3 vertebrate paralogs, closest to RHOBTB2) was shown to result in neurological phenotypes. RhoBTB overexpression in particular was associated with increased bang sensitivity (which was not the case or milder in the case if knockdown of this gene) and impaired performance upon the negative geotaxis assay, similar to the human neurological phenotypes. Altered RhoBTB dosage was shown to be associated with impaired dendrite development.

As commented by the authors, these results as well as the clustering of missense variants and the pLI score of 0.51 reported for RHOBTB2 are consistent with altered protein function (due to the missense variants) rather than haploinsufficiency or loss-of-function.

PMID: 29768694 describes 3 additional individuals, all found to harbor de novo missense variants again within the BTB-domain encoding region. Two of the variants had been reported in the previous study (Arg511Gln and Arg483His) while the third was a private one (Arg507Cys). The phenotype was similar to the previous descriptions. Functional studies were suggestive of impaired degradation of the mutant protein by the CUL3 complex although this was not secondary to decreased binding with CUL3.

PMID: 26740508 (cited by the two aforementioned publications) reports briefly on an individual with de novo missense variant in the same region of RHOBTB2 (Asn510Asp) and Rett-like phenotype.

RHOBTB2 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result the gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Intellectual disability v2.530 RHOBTB2 Konstantinos Varvagiannis gene: RHOBTB2 was added
gene: RHOBTB2 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004; 29768694; 26740508
Phenotypes for gene: RHOBTB2 were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly
Penetrance for gene: RHOBTB2 were set to unknown
Mode of pathogenicity for gene: RHOBTB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RHOBTB2 was set to GREEN
gene: RHOBTB2 was marked as current diagnostic
Added comment: PMID: 29276004 reports on 10 unrelated patients with de novo pathogenic missense variants in RHOBTB2. The phenotype in all individuals was compatible with a developmental and epileptic encephalopathy including early-onset seizures, severe intellectual disability, postnatal onset microcephaly (6/10) and movement disorders (8/10).

The variants occured as de novo events and clustered within the BTB-domain encoding region (within and between the 2 BTB domains). Three missense variants were recurrent and/or concerned the same residue (p.Arg483His in 4 individuals, Arg511Gln was reported in 2, and Arg511Trp was was found in another 2 individuals).

Functional studies in HEK293 cells suggested increased abundance of the mutant protein secondary to decreased proteasome degradation. Using Drosophila as a model organism, altered expression of RhoBTB (the single ortholog of the 3 vertebrate paralogs, closest to RHOBTB2) was shown to result in neurological phenotypes. RhoBTB overexpression in particular was associated with increased bang sensitivity (which was not the case or milder in the case if knockdown of this gene) and impaired performance upon the negative geotaxis assay, similar to the human neurological phenotypes. Altered RhoBTB dosage was shown to be associated with impaired dendrite development.

As commented by the authors, these results as well as the clustering of missense variants and the pLI score of 0.51 reported for RHOBTB2 are consistent with altered protein function (due to the missense variants) rather than haploinsufficiency or loss-of-function.

PMID: 29768694 describes 3 additional individuals, all found to harbor de novo missense variants again within the BTB-domain encoding region. Two of the variants had been reported in the previous study (Arg511Gln and Arg483His) while the third was a private one (Arg507Cys). The phenotype was similar to the previous descriptions. Functional studies were suggestive of impaired degradation of the mutant protein by the CUL3 complex although this was not secondary to decreased binding with CUL3.

PMID: 26740508 (cited by the two aforementioned publications) reports briefly on an individual with de novo missense variant in the same region of RHOBTB2 (Asn510Asp) and Rett-like phenotype.

RHOBTB2 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result the gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Ductal plate malformation v0.22 RSPH9 Ivone Leong Mode of inheritance for gene RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.21 RSPH4A Ivone Leong Source Expert list was added to RSPH4A.
Mode of inheritance for gene RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.3 TCTN1 Rebecca Foulger Tag watchlist tag was added to gene: TCTN1.
Fetal anomalies v0.3 TCTN1 Rebecca Foulger commented on gene: TCTN1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 BGN Rebecca Foulger Tag watchlist tag was added to gene: BGN.
Fetal anomalies v0.3 BGN Rebecca Foulger commented on gene: BGN: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger Tag watchlist tag was added to gene: TBC1D20.
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger commented on gene: TBC1D20: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ITPR1 Rebecca Foulger Tag watchlist tag was added to gene: ITPR1.
Fetal anomalies v0.3 ITPR1 Rebecca Foulger commented on gene: ITPR1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 BMP2 Rebecca Foulger Tag watchlist tag was added to gene: BMP2.
Fetal anomalies v0.3 BMP2 Rebecca Foulger commented on gene: BMP2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 SUFU Rebecca Foulger Tag watchlist tag was added to gene: SUFU.
Fetal anomalies v0.3 SUFU Rebecca Foulger commented on gene: SUFU: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 KMT2C Rebecca Foulger Tag watchlist tag was added to gene: KMT2C.
Fetal anomalies v0.3 KMT2C Rebecca Foulger commented on gene: KMT2C: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ERCC4 Rebecca Foulger Tag watchlist tag was added to gene: ERCC4.
Fetal anomalies v0.3 ERCC4 Rebecca Foulger commented on gene: ERCC4: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 IL11RA Rebecca Foulger Tag watchlist tag was added to gene: IL11RA.
Fetal anomalies v0.3 IL11RA Rebecca Foulger commented on gene: IL11RA: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger Tag watchlist tag was added to gene: PIEZO1.
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger commented on gene: PIEZO1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 DNAH5 Rebecca Foulger Tag watchlist tag was added to gene: DNAH5.
Fetal anomalies v0.3 DNAH5 Rebecca Foulger commented on gene: DNAH5: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 EMG1 Rebecca Foulger Tag watchlist tag was added to gene: EMG1.
Fetal anomalies v0.3 EMG1 Rebecca Foulger commented on gene: EMG1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MITF Rebecca Foulger Tag watchlist tag was added to gene: MITF.
Fetal anomalies v0.3 MITF Rebecca Foulger commented on gene: MITF: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MAFB Rebecca Foulger Tag watchlist tag was added to gene: MAFB.
Fetal anomalies v0.3 MAFB Rebecca Foulger commented on gene: MAFB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ATAD3A Rebecca Foulger Tag watchlist tag was added to gene: ATAD3A.
Fetal anomalies v0.3 ATAD3A Rebecca Foulger commented on gene: ATAD3A: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 DEAF1 Rebecca Foulger Tag watchlist tag was added to gene: DEAF1.
Fetal anomalies v0.3 DEAF1 Rebecca Foulger commented on gene: DEAF1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TBCE Rebecca Foulger Tag watchlist tag was added to gene: TBCE.
Fetal anomalies v0.3 TBCE Rebecca Foulger commented on gene: TBCE: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ACTB Rebecca Foulger Tag watchlist tag was added to gene: ACTB.
Fetal anomalies v0.3 ACTB Rebecca Foulger commented on gene: ACTB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 IFIH1 Rebecca Foulger Tag watchlist tag was added to gene: IFIH1.
Fetal anomalies v0.3 IFIH1 Rebecca Foulger commented on gene: IFIH1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TWIST2 Rebecca Foulger Tag watchlist tag was added to gene: TWIST2.
Fetal anomalies v0.3 TWIST2 Rebecca Foulger commented on gene: TWIST2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger Tag watchlist tag was added to gene: MAGEL2.
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger commented on gene: MAGEL2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Marked gene: CACNA1A as ready
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in 4 unrelated cases.
Early onset or syndromic epilepsy v0.676 CACNA1A Sarah Leigh Gene: cacna1a has been classified as Green List (High Evidence).
Fetal anomalies v0.3 NEK1 Rebecca Foulger commented on gene: NEK1: Added 'polygenic' tag because NEK1 listed as digenic (and biallelic) for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II in original PAGE file.
Fetal anomalies v0.3 NEK1 Rebecca Foulger Tag polygenic tag was added to gene: NEK1.
Fetal anomalies v0.3 NEK1 Rebecca Foulger Deleted their comment
Fetal anomalies v0.3 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12
Fetal anomalies v0.3 TRAPPC12 Rebecca Foulger Tag polygenic tag was added to gene: TRAPPC12.
Fetal anomalies v0.3 SMO Rebecca Foulger Tag mosaicism tag was added to gene: SMO.
Fetal anomalies v0.3 SMO Rebecca Foulger commented on gene: SMO: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Curry-Jones Syndrome.
Fetal anomalies v0.3 PTEN Rebecca Foulger Tag mosaicism tag was added to gene: PTEN.
Fetal anomalies v0.3 PTEN Rebecca Foulger commented on gene: PTEN: Mosaicism tag added based on original PAGE file which records Mosaic MOI for PROTEUS SYNDROME.
Fetal anomalies v0.3 PIK3CA Rebecca Foulger Tag mosaicism tag was added to gene: PIK3CA.
Fetal anomalies v0.3 PIK3CA Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added based on original PAGE file which records Mosaic MOI for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3.
Fetal anomalies v0.3 GNAQ Rebecca Foulger Tag mosaicism tag was added to gene: GNAQ.
Fetal anomalies v0.3 GNAQ Rebecca Foulger commented on gene: GNAQ: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital Hemangioma.
Fetal anomalies v0.3 GNA14 Rebecca Foulger Tag mosaicism tag was added to gene: GNA14.
Fetal anomalies v0.3 GNA14 Rebecca Foulger commented on gene: GNA14: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital vascular tumours.
Fetal anomalies v0.3 GNA11 Rebecca Foulger Tag mosaicism tag was added to gene: GNA11.
Fetal anomalies v0.3 GNA11 Rebecca Foulger commented on gene: GNA11: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital Hemangioma.
Fetal anomalies v0.3 FGFR1 Rebecca Foulger Tag mosaicism tag was added to gene: FGFR1.
Fetal anomalies v0.3 FGFR1 Rebecca Foulger commented on gene: FGFR1: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Encephalocraniocutaneous lipomatosis.
Fetal anomalies v0.3 AKT3 Rebecca Foulger Tag mosaicism tag was added to gene: AKT3.
Fetal anomalies v0.3 AKT3 Rebecca Foulger commented on gene: AKT3: Mosaicism tag added based on original PAGE file which records Mosaic MOI for HEMIMEGALENCEPHALY AKT3.
Fetal anomalies v0.3 AKT1 Rebecca Foulger commented on gene: AKT1: Mosaicism tag added based on original PAGE file which records Mosaic MOI for PROTEUS SYNDROME.
Fetal anomalies v0.3 AKT1 Rebecca Foulger Tag mosaicism tag was added to gene: AKT1.
Fetal anomalies v0.3 GNAS Rebecca Foulger commented on gene: GNAS: Mosaicism tag added based on original PAGE file which records Mosaic MOI for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA.
Fetal anomalies v0.3 GNAS Rebecca Foulger Tag mosaicism tag was added to gene: GNAS.
Fetal anomalies v0.3 TMEM5 Rebecca Foulger Tag new-gene-name tag was added to gene: TMEM5.
Fetal anomalies v0.3 TMEM5 Rebecca Foulger commented on gene: TMEM5: Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1
Fetal anomalies v0.3 C2orf71 Rebecca Foulger Tag new-gene-name tag was added to gene: C2orf71.
Fetal anomalies v0.3 C2orf71 Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE
Fetal anomalies v0.3 C4orf26 Rebecca Foulger Tag new-gene-name tag was added to gene: C4orf26.
Fetal anomalies v0.3 C4orf26 Rebecca Foulger commented on gene: C4orf26: Added new-gene-name tag, new approved HGNC gene symbol is ODAPH
Fetal anomalies v0.3 C5orf42 Rebecca Foulger Tag new-gene-name tag was added to gene: C5orf42.
Fetal anomalies v0.3 C5orf42 Rebecca Foulger commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Fetal anomalies v0.3 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
Fetal anomalies v0.3 C21orf2 Rebecca Foulger commented on gene: C21orf2: Added new-gene-name tag, new approved HGNC gene symbol is CFAP410
Fetal anomalies v0.3 C21orf59 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf59.
Fetal anomalies v0.3 C21orf59 Rebecca Foulger commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol is CFAP298
Fetal anomalies v0.3 FAM58A Rebecca Foulger Tag new-gene-name tag was added to gene: FAM58A.
Fetal anomalies v0.3 FAM58A Rebecca Foulger commented on gene: FAM58A: Added new-gene-name tag, new approved HGNC gene symbol is CCNQ
Fetal anomalies v0.3 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHM Rebecca Foulger reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAOA Rebecca Foulger reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NLGN3 Rebecca Foulger reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPLA2 Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ROBO3 Rebecca Foulger reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYO15A Rebecca Foulger reviewed gene: MYO15A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDH23 Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DMD Rebecca Foulger reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TCTN1 Rebecca Foulger reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BGN Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ITPR1 Rebecca Foulger reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BMP2 Rebecca Foulger reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SUFU Rebecca Foulger reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KMT2C Rebecca Foulger reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ERCC4 Rebecca Foulger reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IL11RA Rebecca Foulger reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNAH5 Rebecca Foulger reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EMG1 Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MITF Rebecca Foulger reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAFB Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATAD3A Rebecca Foulger reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DEAF1 Rebecca Foulger reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBCE Rebecca Foulger reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTB Rebecca Foulger reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFIH1 Rebecca Foulger reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TWIST2 Rebecca Foulger reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CAD Rebecca Foulger reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDAR Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPL11 Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDKN1C Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 YY1 Rebecca Foulger reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UROC1 Rebecca Foulger reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SRP54 Rebecca Foulger reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPRY4 Rebecca Foulger reviewed gene: SPRY4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMC3 Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SC5D Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PROKR2 Rebecca Foulger reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NUP62 Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSMF Rebecca Foulger reviewed gene: NSMF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYT1 Rebecca Foulger reviewed gene: MYT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LFNG Rebecca Foulger reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KLHL7 Rebecca Foulger reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KDM1A Rebecca Foulger reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IL17RD Rebecca Foulger reviewed gene: IL17RD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HYLS1 Rebecca Foulger reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 H19 Rebecca Foulger reviewed gene: H19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLUL Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA3 Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FUZ Rebecca Foulger reviewed gene: FUZ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLRT3 Rebecca Foulger reviewed gene: FLRT3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF8 Rebecca Foulger reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF17 Rebecca Foulger reviewed gene: FGF17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EPHX1 Rebecca Foulger reviewed gene: EPHX1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DUSP6 Rebecca Foulger reviewed gene: DUSP6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDR2 Rebecca Foulger reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYP1B1 Rebecca Foulger reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYP19A1 Rebecca Foulger reviewed gene: CYP19A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBB3 Rebecca Foulger reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLDN19 Rebecca Foulger reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BFSP2 Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCC8 Rebecca Foulger reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAF Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LMNA Rebecca Foulger reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT7A Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH3 Rebecca Foulger reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MED12 Rebecca Foulger reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HSF4 Rebecca Foulger reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA8 Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GDF6 Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GCH1 Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DSP Rebecca Foulger reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYGD Rebecca Foulger reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COX10 Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PHOX2B Rebecca Foulger reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TGFBR1 Rebecca Foulger reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH6 Rebecca Foulger reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HOXD13 Rebecca Foulger reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GDF5 Rebecca Foulger reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC39A13 Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRB3 Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IRF6 Rebecca Foulger reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CIB2 Rebecca Foulger reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NOG Rebecca Foulger reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 STAT1 Rebecca Foulger reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLNB Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1D Rebecca Foulger reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH9 Rebecca Foulger reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPT1 Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEK8 Rebecca Foulger reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RET Rebecca Foulger reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCTD7 Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTH1R Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GATA6 Rebecca Foulger reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP7A Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DPAGT1 Rebecca Foulger reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACAN Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDN1 Rebecca Foulger reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANO5 Rebecca Foulger reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 VSX2 Rebecca Foulger reviewed gene: VSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 INPP5E Rebecca Foulger reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PAK3 Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CASK Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ARX Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HSD17B10 Rebecca Foulger reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GUCY2C Rebecca Foulger reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OCRL Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRIM32 Rebecca Foulger reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLR3B Rebecca Foulger reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PLP1 Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPGRIP1 Rebecca Foulger reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PAX6 Rebecca Foulger reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMAD4 Rebecca Foulger reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRA1 Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX2 Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBA1A Rebecca Foulger reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NALCN Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HNF4A Rebecca Foulger reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZIC3 Rebecca Foulger reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNJ11 Rebecca Foulger reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WWOX Rebecca Foulger reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMC1A Rebecca Foulger reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MSX2 Rebecca Foulger reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TP63 Rebecca Foulger reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDA Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBC1D24 Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH8 Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTF1A Rebecca Foulger reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DSPP Rebecca Foulger reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANKH Rebecca Foulger reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR19 Rebecca Foulger reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX1 Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ERF Rebecca Foulger reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM67 Rebecca Foulger reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KARS Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLN6 Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBB2 Rebecca Foulger reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYAA Rebecca Foulger reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN2A Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TTC8 Rebecca Foulger reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ARL6 Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN2B Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HR Rebecca Foulger reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NKX2-5 Rebecca Foulger reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DYNC1H1 Rebecca Foulger reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRPS1 Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX3 Rebecca Foulger reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3R1 Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF7 Rebecca Foulger reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC26A2 Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNQ5 Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNA2 Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTHLH Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZBTB20 Rebecca Foulger reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB2B Rebecca Foulger reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SRCAP Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPTAN1 Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP2R5D Rebecca Foulger reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP2R1A Rebecca Foulger reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KLF1 Rebecca Foulger reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF2A Rebecca Foulger reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GFAP Rebecca Foulger reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FZD5 Rebecca Foulger reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBN2 Rebecca Foulger reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DVL3 Rebecca Foulger reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DPF2 Rebecca Foulger reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBA4 Rebecca Foulger reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A3 Rebecca Foulger reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A2 Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A1 Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL10A1 Rebecca Foulger reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP6V1B2 Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL11A1 Rebecca Foulger reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AR Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALDH18A1 Rebecca Foulger reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX10 Rebecca Foulger reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A1 Rebecca Foulger reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A2 Rebecca Foulger reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RARB Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBN1 Rebecca Foulger reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EMC1 Rebecca Foulger reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BHLHA9 Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL2A1 Rebecca Foulger reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HPD Rebecca Foulger reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KAT6B Rebecca Foulger reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL1A1 Rebecca Foulger reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WT1 Rebecca Foulger reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COMP Rebecca Foulger reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL11A2 Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX9 Rebecca Foulger reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WRAP53 Rebecca Foulger reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT5A Rebecca Foulger reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR11 Rebecca Foulger reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UQCRQ Rebecca Foulger reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUFM Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBG1 Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB2A Rebecca Foulger reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TTI2 Rebecca Foulger reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN34 Rebecca Foulger reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN2 Rebecca Foulger reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN15 Rebecca Foulger reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRPV3 Rebecca Foulger reviewed gene: TRPV3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRMT10C Rebecca Foulger reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRIO Rebecca Foulger reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TPM2 Rebecca Foulger reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM216 Rebecca Foulger reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TK2 Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 THOC2 Rebecca Foulger reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TGFB1 Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TFAP2B Rebecca Foulger reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TFAP2A Rebecca Foulger reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TERT Rebecca Foulger reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TELO2 Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TEK Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBXAS1 Rebecca Foulger reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAF13 Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TACR3 Rebecca Foulger reviewed gene: TACR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAC3 Rebecca Foulger reviewed gene: TAC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAB2 Rebecca Foulger reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ST3GAL3 Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ST14 Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPECC1L Rebecca Foulger reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPARC Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX17 Rebecca Foulger reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX11 Rebecca Foulger reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SNRPE Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SNAP25 Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMCHD1 Rebecca Foulger reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMARCE1 Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC6A17 Rebecca Foulger reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC5A7 Rebecca Foulger reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC45A1 Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC39A8 Rebecca Foulger reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A4 Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A24 Rebecca Foulger reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A22 Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A19 Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC1A2 Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SKI Rebecca Foulger reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIX5 Rebecca Foulger reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SDHAF1 Rebecca Foulger reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN3A Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SASS6 Rebecca Foulger reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RTTN Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPS23 Rebecca Foulger reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RLIM Rebecca Foulger reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RBPJ Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAD51C Rebecca Foulger reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAC1 Rebecca Foulger reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAB11A Rebecca Foulger reviewed gene: RAB11A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PYCR2 Rebecca Foulger reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRKD1 Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP1CB Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPA2 Rebecca Foulger reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLG Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLD1 Rebecca Foulger reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PLCB4 Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGY Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGV Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGT Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGN Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PGAP2 Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDSS1 Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 P4HB Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OSGEP Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSUN2 Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NHP2 Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NFU1 Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEDD4L Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFS8 Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MRPS22 Rebecca Foulger reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MOGS Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MFSD2A Rebecca Foulger reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MED17 Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MATN3 Rebecca Foulger reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAPRE2 Rebecca Foulger reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAN1B1 Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LONP1 Rebecca Foulger reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIPT1 Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIAS Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LARS2 Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KRT74 Rebecca Foulger reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF5C Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIAA1109 Rebecca Foulger reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNJ6 Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNE1 Rebecca Foulger reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNC3 Rebecca Foulger reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNB1 Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KBTBD13 Rebecca Foulger reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IRX5 Rebecca Foulger reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IQSEC2 Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 INPP5K Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT80 Rebecca Foulger reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT43 Rebecca Foulger reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT122 Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HUWE1 Rebecca Foulger reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HOXB1 Rebecca Foulger reviewed gene: HOXB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HNRNPH2 Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HMGCS2 Rebecca Foulger reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HIST1H4C Rebecca Foulger reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HECW2 Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HCN1 Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 H3F3A Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GTF2E2 Rebecca Foulger reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN1 Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRHL2 Rebecca Foulger reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GPI Rebecca Foulger reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAI3 Rebecca Foulger reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GMPPB Rebecca Foulger reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLE1 Rebecca Foulger reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GCDH Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRB2 Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FOXE1 Rebecca Foulger reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FN1 Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLVCR1 Rebecca Foulger reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLT4 Rebecca Foulger reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBLN5 Rebecca Foulger reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EZH2 Rebecca Foulger reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EXOSC3 Rebecca Foulger reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EED Rebecca Foulger reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DOLK Rebecca Foulger reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNM1 Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNAAF5 Rebecca Foulger reviewed gene: DNAAF5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHX30 Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHFR Rebecca Foulger reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHDDS Rebecca Foulger reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX6 Rebecca Foulger reviewed gene: DDX6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX59 Rebecca Foulger reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DARS Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DAG1 Rebecca Foulger reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYC1 Rebecca Foulger reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CUX2 Rebecca Foulger reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRELD1 Rebecca Foulger reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRADD Rebecca Foulger reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL6A1 Rebecca Foulger reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLPP Rebecca Foulger reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLP1 Rebecca Foulger reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CIT Rebecca Foulger reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHD3 Rebecca Foulger reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CFL2 Rebecca Foulger reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDON Rebecca Foulger reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDK13 Rebecca Foulger reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDH1 Rebecca Foulger reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CCDC22 Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C1QBP Rebecca Foulger reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C12orf57 Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BICD2 Rebecca Foulger reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BANF1 Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ASNS Rebecca Foulger reviewed gene: ASNS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALPL Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALDOA Rebecca Foulger reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALAD Rebecca Foulger reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AFF3 Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ADSL Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTG1 Rebecca Foulger reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTA1 Rebecca Foulger reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSHR Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ASAH1 Rebecca Foulger reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTA2 Rebecca Foulger reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT4 Rebecca Foulger reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR34 Rebecca Foulger reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB3 Rebecca Foulger reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB Rebecca Foulger reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMARCA2 Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC4A1 Rebecca Foulger reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIX1 Rebecca Foulger reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NR5A1 Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP3K7 Rebecca Foulger reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IHH Rebecca Foulger reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AIFM1 Rebecca Foulger reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LDB3 Rebecca Foulger reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJC2 Rebecca Foulger reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTG2 Rebecca Foulger reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZSWIM6 Rebecca Foulger reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZIC1 Rebecca Foulger reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 YWHAG Rebecca Foulger reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UBTF Rebecca Foulger reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB4A Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOS1 Rebecca Foulger reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIK1 Rebecca Foulger reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RRAS Rebecca Foulger reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTDSS1 Rebecca Foulger reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE4D Rebecca Foulger reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PCGF2 Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NOTCH2 Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NACC1 Rebecca Foulger reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MECOM Rebecca Foulger reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF22 Rebecca Foulger reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCTD1 Rebecca Foulger reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNH1 Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNC1 Rebecca Foulger reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN2D Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNB1 Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GMNN Rebecca Foulger reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLUD1 Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF12 Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FAM111A Rebecca Foulger reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EEF1A2 Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDNRA Rebecca Foulger reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DVL1 Rebecca Foulger reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CSNK2A1 Rebecca Foulger reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A3BP Rebecca Foulger reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHRNA4 Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CCND2 Rebecca Foulger reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CBL Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1C Rebecca Foulger reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AFF4 Rebecca Foulger reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACVR1 Rebecca Foulger reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABL1 Rebecca Foulger reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCC9 Rebecca Foulger reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAB21L2 Rebecca Foulger reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNT1 Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LRP5 Rebecca Foulger reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR2 Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDGFRB Rebecca Foulger reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHRNB2 Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFITM5 Rebecca Foulger reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EIF4A3 Rebecca Foulger reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANKRD26 Rebecca Foulger reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE6H Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HCFC1 Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IGF2 Rebecca Foulger reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UBE3A Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLNA Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NAA10 Rebecca Foulger reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX3 Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MECP2 Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DCX Rebecca Foulger reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEXMIF Rebecca Foulger reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FMR1 Rebecca Foulger reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALG13 Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HDAC8 Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPS6KA3 Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 USP9X Rebecca Foulger reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX3X Rebecca Foulger reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZC4H2 Rebecca Foulger reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR1 Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMO Rebecca Foulger reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNA14 Rebecca Foulger reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEK1 Rebecca Foulger reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACADS Rebecca Foulger reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCB7 Rebecca Foulger reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM5 Rebecca Foulger reviewed gene: TMEM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C2orf71 Rebecca Foulger reviewed gene: C2orf71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C4orf26 Rebecca Foulger reviewed gene: C4orf26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C5orf42 Rebecca Foulger reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C21orf2 Rebecca Foulger reviewed gene: C21orf2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C21orf59 Rebecca Foulger reviewed gene: C21orf59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FAM58A Rebecca Foulger reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MMP13 Rebecca Foulger reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.2 Rebecca Foulger Panel status changed from public to internal
Ductal plate malformation v0.20 SEC61B Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) to Association with polycystic liver disease 1 with or without renal cysts
Ductal plate malformation v0.19 ALG8 Ivone Leong Mode of inheritance for gene ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874) to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)
Ductal plate malformation v0.18 CCDC40 Ivone Leong Mode of inheritance for gene CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.676 RANBP2 Sarah Leigh Phenotypes for gene: RANBP2 were changed from {Encephalopathy, acute, infection-induced, 3, susceptibility to} to {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Ductal plate malformation v0.17 CCDC39 Ivone Leong Mode of inheritance for gene CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1 CHM Rebecca Foulger gene: CHM was added
gene: CHM was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CHM was set to
Fetal anomalies v0.1 NLGN3 Rebecca Foulger gene: NLGN3 was added
gene: NLGN3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NLGN3 was set to
Fetal anomalies v0.1 PNPLA2 Rebecca Foulger gene: PNPLA2 was added
gene: PNPLA2 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: PNPLA2 was set to
Fetal anomalies v0.1 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: GJB3 was set to
Fetal anomalies v0.1 ROBO3 Rebecca Foulger gene: ROBO3 was added
gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: ROBO3 was set to
Fetal anomalies v0.1 NRXN1 Rebecca Foulger gene: NRXN1 was added
gene: NRXN1 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NRXN1 was set to
Fetal anomalies v0.1 MYO15A Rebecca Foulger gene: MYO15A was added
gene: MYO15A was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: MYO15A was set to
Fetal anomalies v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CDH23 was set to
Fetal anomalies v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: DMD was set to
Fetal anomalies v0.1 ZSWIM6 Rebecca Foulger gene: ZSWIM6 was added
gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS
Fetal anomalies v0.1 ZNF750 Rebecca Foulger gene: ZNF750 was added
gene: ZNF750 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Fetal anomalies v0.1 ZNF711 Rebecca Foulger gene: ZNF711 was added
gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED
Fetal anomalies v0.1 ZNF462 Rebecca Foulger gene: ZNF462 was added
gene: ZNF462 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Fetal anomalies v0.1 ZNF423 Rebecca Foulger Added phenotypes Nephronophthisis 14 614844 for gene: ZNF423
Fetal anomalies v0.1 ZNF423 Rebecca Foulger gene: ZNF423 was added
gene: ZNF423 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844
Fetal anomalies v0.1 ZMYND11 Rebecca Foulger gene: ZMYND11 was added
gene: ZMYND11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZMYND10 Rebecca Foulger gene: ZMYND10 was added
gene: ZMYND10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22
Fetal anomalies v0.1 ZMPSTE24 Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY for gene: ZMPSTE24
Fetal anomalies v0.1 ZMPSTE24 Rebecca Foulger gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Fetal anomalies v0.1 ZIC3 Rebecca Foulger Added phenotypes HETEROTAXY SYNDROME for gene: ZIC3
Fetal anomalies v0.1 ZIC3 Rebecca Foulger gene: ZIC3 was added
gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Fetal anomalies v0.1 ZIC2 Rebecca Foulger gene: ZIC2 was added
gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 ZIC1 Rebecca Foulger gene: ZIC1 was added
gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6
Fetal anomalies v0.1 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
Fetal anomalies v0.1 ZFP57 Rebecca Foulger gene: ZFP57 was added
gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
Fetal anomalies v0.1 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME
Fetal anomalies v0.1 ZDHHC9 Rebecca Foulger gene: ZDHHC9 was added
gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Fetal anomalies v0.1 ZC4H2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY for gene: ZC4H2
Fetal anomalies v0.1 ZC4H2 Rebecca Foulger gene: ZC4H2 was added
gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZC4H2 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: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZBTB20 Rebecca Foulger gene: ZBTB20 was added
gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME
Fetal anomalies v0.1 ZBTB18 Rebecca Foulger gene: ZBTB18 was added
gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome
Fetal anomalies v0.1 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 YWHAG Rebecca Foulger gene: YWHAG was added
gene: YWHAG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Fetal anomalies v0.1 YAP1 Rebecca Foulger gene: YAP1 was added
gene: YAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Fetal anomalies v0.1 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME
Fetal anomalies v0.1 XYLT1 Rebecca Foulger gene: XYLT1 was added
gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2
Fetal anomalies v0.1 XRCC4 Rebecca Foulger gene: XRCC4 was added
gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 XPC Rebecca Foulger gene: XPC was added
gene: XPC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C
Fetal anomalies v0.1 XPA Rebecca Foulger gene: XPA was added
gene: XPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A
Fetal anomalies v0.1 WWOX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 for gene: WWOX
Fetal anomalies v0.1 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 WT1 Rebecca Foulger Added phenotypes FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME for gene: WT1
Fetal anomalies v0.1 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME
Fetal anomalies v0.1 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.1 WNT7A Rebecca Foulger Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME for gene: WNT7A
Fetal anomalies v0.1 WNT7A Rebecca Foulger gene: WNT7A was added
gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME
Fetal anomalies v0.1 WNT5A Rebecca Foulger gene: WNT5A was added
gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Fetal anomalies v0.1 WNT4 Rebecca Foulger Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM for gene: WNT4
Fetal anomalies v0.1 WNT4 Rebecca Foulger gene: WNT4 was added
gene: WNT4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT4 were set to SERKAL SYNDROME
Fetal anomalies v0.1 WNT3 Rebecca Foulger gene: WNT3 was added
gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME
Fetal anomalies v0.1 WNT10B Rebecca Foulger gene: WNT10B was added
gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6
Fetal anomalies v0.1 WNT1 Rebecca Foulger gene: WNT1 was added
gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.1 WDR62 Rebecca Foulger gene: WDR62 was added
gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Fetal anomalies v0.1 WDR60 Rebecca Foulger Added phenotypes SHORT-RIB POLYDACTYLY for gene: WDR60
Fetal anomalies v0.1 WDR60 Rebecca Foulger gene: WDR60 was added
gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES
Fetal anomalies v0.1 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR45 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: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.1 WDR35 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME, TYPE V for gene: WDR35
Fetal anomalies v0.1 WDR35 Rebecca Foulger gene: WDR35 was added
gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2
Fetal anomalies v0.1 WDR34 Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34
Fetal anomalies v0.1 WDR34 Rebecca Foulger gene: WDR34 was added
gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III
Fetal anomalies v0.1 WDR26 Rebecca Foulger gene: WDR26 was added
gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Fetal anomalies v0.1 WDR19 Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 for gene: WDR19
Fetal anomalies v0.1 WDR19 Rebecca Foulger gene: WDR19 was added
gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4
Fetal anomalies v0.1 WDR11 Rebecca Foulger gene: WDR11 was added
gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME
Fetal anomalies v0.1 WDPCP Rebecca Foulger gene: WDPCP was added
gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15
Fetal anomalies v0.1 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210
Fetal anomalies v0.1 WAC Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC
Fetal anomalies v0.1 WAC Rebecca Foulger gene: WAC was added
gene: WAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 2 for gene: VSX2
Fetal anomalies v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 for gene: VSX2
Fetal anomalies v0.1 VSX2 Rebecca Foulger gene: VSX2 was added
gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
Fetal anomalies v0.1 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.1 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744; 12920088
Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
Fetal anomalies v0.1 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Fetal anomalies v0.1 VPS13B Rebecca Foulger gene: VPS13B was added
gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to COHEN SYNDROME
Fetal anomalies v0.1 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Fetal anomalies v0.1 VIPAS39 Rebecca Foulger gene: VIPAS39 was added
gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Fetal anomalies v0.1 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A
Fetal anomalies v0.1 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME
Fetal anomalies v0.1 USP9X Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 for gene: USP9X
Fetal anomalies v0.1 USP9X Rebecca Foulger gene: USP9X was added
gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP9X 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: USP9X were set to MENTAL RETARDATION, X-LINKED 99
Fetal anomalies v0.1 USP27X Rebecca Foulger gene: USP27X was added
gene: USP27X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 USP18 Rebecca Foulger gene: USP18 was added
gene: USP18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome
Fetal anomalies v0.1 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Fetal anomalies v0.1 UROS Rebecca Foulger gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA
Fetal anomalies v0.1 UROC1 Rebecca Foulger gene: UROC1 was added
gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY
Fetal anomalies v0.1 UQCRQ Rebecca Foulger gene: UQCRQ was added
gene: UQCRQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Fetal anomalies v0.1 UQCRB Rebecca Foulger gene: UQCRB was added
gene: UQCRB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED
Fetal anomalies v0.1 UPF3B Rebecca Foulger gene: UPF3B was added
gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Fetal anomalies v0.1 UNC80 Rebecca Foulger gene: UNC80 was added
gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Fetal anomalies v0.1 UMPS Rebecca Foulger gene: UMPS was added
gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1
Fetal anomalies v0.1 UGT1A1 Rebecca Foulger gene: UGT1A1 was added
gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I
Fetal anomalies v0.1 UBTF Rebecca Foulger gene: UBTF was added
gene: UBTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration
Fetal anomalies v0.1 UBR1 Rebecca Foulger gene: UBR1 was added
gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME
Fetal anomalies v0.1 UBE3B Rebecca Foulger gene: UBE3B was added
gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION
Fetal anomalies v0.1 UBE3A Rebecca Foulger gene: UBE3A was added
gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME
Fetal anomalies v0.1 UBE2T Rebecca Foulger gene: UBE2T was added
gene: UBE2T was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T
Fetal anomalies v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Fetal anomalies v0.1 UBA5 Rebecca Foulger gene: UBA5 was added
gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy
Fetal anomalies v0.1 UBA1 Rebecca Foulger gene: UBA1 was added
gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
Fetal anomalies v0.1 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3
Fetal anomalies v0.1 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1
Fetal anomalies v0.1 TXNL4A Rebecca Foulger gene: TXNL4A was added
gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME
Fetal anomalies v0.1 TWIST2 Rebecca Foulger Added phenotypes SETLEIS SYNDROME for gene: TWIST2
Fetal anomalies v0.1 TWIST2 Rebecca Foulger gene: TWIST2 was added
gene: TWIST2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME
Fetal anomalies v0.1 TWIST1 Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 1 for gene: TWIST1
Fetal anomalies v0.1 TWIST1 Rebecca Foulger gene: TWIST1 was added
gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME
Fetal anomalies v0.1 TUSC3 Rebecca Foulger gene: TUSC3 was added
gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7
Fetal anomalies v0.1 TUFM Rebecca Foulger gene: TUFM was added
gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Fetal anomalies v0.1 TUBGCP6 Rebecca Foulger gene: TUBGCP6 was added
gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Fetal anomalies v0.1 TUBGCP4 Rebecca Foulger gene: TUBGCP4 was added
gene: TUBGCP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Fetal anomalies v0.1 TUBG1 Rebecca Foulger gene: TUBG1 was added
gene: TUBG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly
Fetal anomalies v0.1 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Fetal anomalies v0.1 TUBB3 Rebecca Foulger Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 for gene: TUBB3
Fetal anomalies v0.1 TUBB3 Rebecca Foulger gene: TUBB3 was added
gene: TUBB3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Fetal anomalies v0.1 TUBB2B Rebecca Foulger gene: TUBB2B was added
gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.1 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Fetal anomalies v0.1 TUBB Rebecca Foulger Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB
Fetal anomalies v0.1 TUBB Rebecca Foulger gene: TUBB was added
gene: TUBB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Fetal anomalies v0.1 TUBA8 Rebecca Foulger gene: TUBA8 was added
gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.1 TUBA1A Rebecca Foulger Added phenotypes LISSENCEPHALY TYPE 3 for gene: TUBA1A
Fetal anomalies v0.1 TUBA1A Rebecca Foulger gene: TUBA1A was added
gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TTI2 Rebecca Foulger gene: TTI2 was added
gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 TTC8 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 for gene: TTC8
Fetal anomalies v0.1 TTC8 Rebecca Foulger gene: TTC8 was added
gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51
Fetal anomalies v0.1 TTC7A Rebecca Foulger gene: TTC7A was added
gene: TTC7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE
Fetal anomalies v0.1 TTC37 Rebecca Foulger gene: TTC37 was added
gene: TTC37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME
Fetal anomalies v0.1 TTC25 Rebecca Foulger gene: TTC25 was added
gene: TTC25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Fetal anomalies v0.1 TTC21B Rebecca Foulger gene: TTC21B was added
gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Fetal anomalies v0.1 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY
Fetal anomalies v0.1 TSPAN7 Rebecca Foulger gene: TSPAN7 was added
gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58
Fetal anomalies v0.1 TSHR Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL for gene: TSHR
Fetal anomalies v0.1 TSHR Rebecca Foulger gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
Fetal anomalies v0.1 TSHB Rebecca Foulger gene: TSHB was added
gene: TSHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Fetal anomalies v0.1 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN15 Rebecca Foulger gene: TSEN15 was added
gene: TSEN15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Fetal anomalies v0.1 TSC2 Rebecca Foulger Added phenotypes TUBEROUS SCLEROSIS TYPE 2 for gene: TSC2
Fetal anomalies v0.1 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS
Fetal anomalies v0.1 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1
Fetal anomalies v0.1 TRPV4 Rebecca Foulger Added phenotypes METATROPIC DYSPLASIA for gene: TRPV4
Fetal anomalies v0.1 TRPV4 Rebecca Foulger gene: TRPV4 was added
gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Fetal anomalies v0.1 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME
Fetal anomalies v0.1 TRPS1 Rebecca Foulger gene: TRPS1 was added
gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Fetal anomalies v0.1 TRPM1 Rebecca Foulger gene: TRPM1 was added
gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Fetal anomalies v0.1 TRMT10C Rebecca Foulger gene: TRMT10C was added
gene: TRMT10C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Fetal anomalies v0.1 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Fetal anomalies v0.1 TRIP13 Rebecca Foulger gene: TRIP13 was added
gene: TRIP13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
Fetal anomalies v0.1 TRIP12 Rebecca Foulger gene: TRIP12 was added
gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder
Fetal anomalies v0.1 TRIP11 Rebecca Foulger gene: TRIP11 was added
gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A
Fetal anomalies v0.1 TRIO Rebecca Foulger gene: TRIO was added
gene: TRIO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TRIM37 Rebecca Foulger gene: TRIM37 was added
gene: TRIM37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Fetal anomalies v0.1 TRIM32 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H for gene: TRIM32
Fetal anomalies v0.1 TRIM32 Rebecca Foulger gene: TRIM32 was added
gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11
Fetal anomalies v0.1 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Fetal anomalies v0.1 TRAPPC9 Rebecca Foulger gene: TRAPPC9 was added
gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Fetal anomalies v0.1 TRAPPC2 Rebecca Foulger gene: TRAPPC2 was added
gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Fetal anomalies v0.1 TRAPPC12 Rebecca Foulger gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction
Fetal anomalies v0.1 TRAPPC11 Rebecca Foulger gene: TRAPPC11 was added
gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Fetal anomalies v0.1 TRAIP Rebecca Foulger gene: TRAIP was added
gene: TRAIP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Fetal anomalies v0.1 TPM3 Rebecca Foulger Added phenotypes Congenital fiber-type disproportion myopathy 255310 for gene: TPM3
Fetal anomalies v0.1 TPM3 Rebecca Foulger gene: TPM3 was added
gene: TPM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Congenital fiber-type disproportion myopathy 255310
Fetal anomalies v0.1 TPM2 Rebecca Foulger gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
Fetal anomalies v0.1 TOE1 Rebecca Foulger gene: TOE1 was added
gene: TOE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Vesicoureteral reflux 8 615963 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency 606408 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Vesicoureteral reflux 8 615963 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger gene: TNXB was added
gene: TNXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency 606408
Fetal anomalies v0.1 TNNT1 Rebecca Foulger gene: TNNT1 was added
gene: TNNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type 605355
Fetal anomalies v0.1 TNNI2 Rebecca Foulger gene: TNNI2 was added
gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Fetal anomalies v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2
Fetal anomalies v0.1 TNFRSF11B Rebecca Foulger gene: TNFRSF11B was added
gene: TNFRSF11B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease 239000
Fetal anomalies v0.1 TMTC3 Rebecca Foulger gene: TMTC3 was added
gene: TMTC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly
Fetal anomalies v0.1 TMPRSS6 Rebecca Foulger gene: TMPRSS6 was added
gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Fetal anomalies v0.1 TMEM70 Rebecca Foulger gene: TMEM70 was added
gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 11 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 6 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 3 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger gene: TMEM67 was added
gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH SYNDROM
Fetal anomalies v0.1 TMEM260 Rebecca Foulger gene: TMEM260 was added
gene: TMEM260 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome
Fetal anomalies v0.1 TMEM237 Rebecca Foulger gene: TMEM237 was added
gene: TMEM237 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14
Fetal anomalies v0.1 TMEM231 Rebecca Foulger Added phenotypes Meckel syndrome 11 615397 for gene: TMEM231
Fetal anomalies v0.1 TMEM231 Rebecca Foulger gene: TMEM231 was added
gene: TMEM231 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970
Fetal anomalies v0.1 TMEM216 Rebecca Foulger gene: TMEM216 was added
gene: TMEM216 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2
Fetal anomalies v0.1 TMEM165 Rebecca Foulger gene: TMEM165 was added
gene: TMEM165 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Fetal anomalies v0.1 TMEM138 Rebecca Foulger gene: TMEM138 was added
gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465
Fetal anomalies v0.1 TMEM126B Rebecca Foulger gene: TMEM126B was added
gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency
Fetal anomalies v0.1 TMCO1 Rebecca Foulger gene: TMCO1 was added
gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 TKT Rebecca Foulger gene: TKT was added
gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
Fetal anomalies v0.1 TK2 Rebecca Foulger gene: TK2 was added
gene: TK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Fetal anomalies v0.1 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Fetal anomalies v0.1 TIMM8A Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME for gene: TIMM8A
Fetal anomalies v0.1 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME
Fetal anomalies v0.1 THRA Rebecca Foulger gene: THRA was added
gene: THRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Fetal anomalies v0.1 THOC6 Rebecca Foulger gene: THOC6 was added
gene: THOC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome
Fetal anomalies v0.1 THOC2 Rebecca Foulger gene: THOC2 was added
gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12
Fetal anomalies v0.1 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION
Fetal anomalies v0.1 TH Rebecca Foulger gene: TH was added
gene: TH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA
Fetal anomalies v0.1 TGM1 Rebecca Foulger gene: TGM1 was added
gene: TGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 242300
Fetal anomalies v0.1 TGIF1 Rebecca Foulger Source PAGE Additional Gene List was added to TGIF1.
Added phenotypes Holoprosencephaly 4 142946 for gene: TGIF1
Fetal anomalies v0.1 TGIF1 Rebecca Foulger gene: TGIF1 was added
gene: TGIF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 TGFBR2 Rebecca Foulger Added phenotypes TGFBR2-RELATED LOEYS-DIETZ SYNDROME for gene: TGFBR2
Fetal anomalies v0.1 TGFBR2 Rebecca Foulger gene: TGFBR2 was added
gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 for gene: TGFBR1
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A for gene: TGFBR1
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger gene: TGFBR1 was added
gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A
Fetal anomalies v0.1 TGFB3 Rebecca Foulger gene: TGFB3 was added
gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFB2 Rebecca Foulger gene: TGFB2 was added
gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4
Fetal anomalies v0.1 TGFB1 Rebecca Foulger gene: TGFB1 was added
gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE
Fetal anomalies v0.1 TGDS Rebecca Foulger gene: TGDS was added
gene: TGDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME
Fetal anomalies v0.1 TFAP2B Rebecca Foulger gene: TFAP2B was added
gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME
Fetal anomalies v0.1 TFAP2A Rebecca Foulger gene: TFAP2A was added
gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME
Fetal anomalies v0.1 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4
Fetal anomalies v0.1 TELO2 Rebecca Foulger gene: TELO2 was added
gene: TELO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder
Fetal anomalies v0.1 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Fetal anomalies v0.1 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS
Fetal anomalies v0.1 TCTN3 Rebecca Foulger gene: TCTN3 was added
gene: TCTN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME
Fetal anomalies v0.1 TCTN2 Rebecca Foulger gene: TCTN2 was added
gene: TCTN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCTN1 Rebecca Foulger Source PAGE Additional Gene List was added to TCTN1.
Added phenotypes Joubert syndrome 13 614173 for gene: TCTN1
Fetal anomalies v0.1 TCTN1 Rebecca Foulger gene: TCTN1 was added
gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCOF1 Rebecca Foulger gene: TCOF1 was added
gene: TCOF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1
Fetal anomalies v0.1 TCN2 Rebecca Foulger gene: TCN2 was added
gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency
Fetal anomalies v0.1 TCIRG1 Rebecca Foulger gene: TCIRG1 was added
gene: TCIRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant 259700
Fetal anomalies v0.1 TCF4 Rebecca Foulger gene: TCF4 was added
gene: TCF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME
Fetal anomalies v0.1 TCF20 Rebecca Foulger gene: TCF20 was added
gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF20 were set to TCF20 syndrome
Fetal anomalies v0.1 TCF12 Rebecca Foulger gene: TCF12 was added
gene: TCF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS
Fetal anomalies v0.1 TBXAS1 Rebecca Foulger gene: TBXAS1 was added
gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME
Fetal anomalies v0.1 TBX6 Rebecca Foulger gene: TBX6 was added
gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600
Fetal anomalies v0.1 TBX5 Rebecca Foulger gene: TBX5 was added
gene: TBX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME
Fetal anomalies v0.1 TBX4 Rebecca Foulger gene: TBX4 was added
gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME
Fetal anomalies v0.1 TBX3 Rebecca Foulger gene: TBX3 was added
gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME
Fetal anomalies v0.1 TBX22 Rebecca Foulger gene: TBX22 was added
gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED
Fetal anomalies v0.1 TBX20 Rebecca Foulger gene: TBX20 was added
gene: TBX20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4
Fetal anomalies v0.1 TBX18 Rebecca Foulger gene: TBX18 was added
gene: TBX18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Fetal anomalies v0.1 TBX15 Rebecca Foulger gene: TBX15 was added
gene: TBX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome
Fetal anomalies v0.1 TBX1 Rebecca Foulger gene: TBX1 was added
gene: TBX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME
Fetal anomalies v0.1 TBR1 Rebecca Foulger gene: TBR1 was added
gene: TBR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBR1 were set to AUTISM
Fetal anomalies v0.1 TBL1XR1 Rebecca Foulger gene: TBL1XR1 was added
gene: TBL1XR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBL1XR1 were set to AUTISM
Fetal anomalies v0.1 TBCK Rebecca Foulger gene: TBCK was added
gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy
Fetal anomalies v0.1 TBCE Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE
Fetal anomalies v0.1 TBCE Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME for gene: TBCE
Fetal anomalies v0.1 TBCE Rebecca Foulger gene: TBCE was added
gene: TBCE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1
Fetal anomalies v0.1 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger Added phenotypes DOORS SYNDROME for gene: TBC1D24
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL for gene: TBC1D24
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger gene: TBC1D24 was added
gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS
Fetal anomalies v0.1 TBC1D23 Rebecca Foulger gene: TBC1D23 was added
gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
Fetal anomalies v0.1 TBC1D20 Rebecca Foulger Source PAGE Additional Gene List was added to TBC1D20.
Added phenotypes Warburg micro syndrome 4 615663 for gene: TBC1D20
Fetal anomalies v0.1 TBC1D20 Rebecca Foulger gene: TBC1D20 was added
gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4
Fetal anomalies v0.1 TAZ Rebecca Foulger gene: TAZ was added
gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to BARTH SYNDROME
Fetal anomalies v0.1 TAT Rebecca Foulger gene: TAT was added
gene: TAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2
Fetal anomalies v0.1 TAPT1 Rebecca Foulger gene: TAPT1 was added
gene: TAPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.1 TANGO2 Rebecca Foulger gene: TANGO2 was added
gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Fetal anomalies v0.1 TAF13 Rebecca Foulger gene: TAF13 was added
gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
Fetal anomalies v0.1 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Fetal anomalies v0.1 TACR3 Rebecca Foulger gene: TACR3 was added
gene: TACR3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TACO1 Rebecca Foulger gene: TACO1 was added
gene: TACO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 TAC3 Rebecca Foulger gene: TAC3 was added
gene: TAC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TAB2 Rebecca Foulger gene: TAB2 was added
gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.1 SZT2 Rebecca Foulger gene: SZT2 was added
gene: SZT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Fetal anomalies v0.1 SYP Rebecca Foulger gene: SYP was added
gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED
Fetal anomalies v0.1 SYNGAP1 Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 for gene: SYNGAP1
Fetal anomalies v0.1 SYNGAP1 Rebecca Foulger gene: SYNGAP1 was added
gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SYNE1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 for gene: SYNE1
Fetal anomalies v0.1 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SYN1 Rebecca Foulger gene: SYN1 was added
gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Fetal anomalies v0.1 SURF1 Rebecca Foulger Added phenotypes COMPLEX IV DEFICIENCY for gene: SURF1
Fetal anomalies v0.1 SURF1 Rebecca Foulger gene: SURF1 was added
gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to LEIGH SYNDROME
Fetal anomalies v0.1 SUMF1 Rebecca Foulger gene: SUMF1 was added
gene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Fetal anomalies v0.1 SUFU Rebecca Foulger Added phenotypes Medulloblastoma, desmoplastic 155255 for gene: SUFU
Fetal anomalies v0.1 SUFU Rebecca Foulger Source PAGE Additional Gene List was added to SUFU.
Added phenotypes Basal cell nevus syndrome 109400 for gene: SUFU
Fetal anomalies v0.1 SUFU Rebecca Foulger gene: SUFU was added
gene: SUFU was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v0.1 SUCLG1 Rebecca Foulger gene: SUCLG1 was added
gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS
Fetal anomalies v0.1 STXBP1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 for gene: STXBP1
Fetal anomalies v0.1 STXBP1 Rebecca Foulger gene: STXBP1 was added
gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
Fetal anomalies v0.1 STX1B Rebecca Foulger gene: STX1B was added
gene: STX1B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Fetal anomalies v0.1 STS Rebecca Foulger gene: STS was added
gene: STS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED
Fetal anomalies v0.1 STRA6 Rebecca Foulger gene: STRA6 was added
gene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9
Fetal anomalies v0.1 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7
Fetal anomalies v0.1 STAT5B Rebecca Foulger gene: STAT5B was added
gene: STAT5B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Fetal anomalies v0.1 STAT1 Rebecca Foulger Added phenotypes FAMILIAL CANDIDIASIS TYPE 7 for gene: STAT1
Fetal anomalies v0.1 STAT1 Rebecca Foulger Added phenotypes MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE for gene: STAT1
Fetal anomalies v0.1 STAT1 Rebecca Foulger gene: STAT1 was added
gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE
Fetal anomalies v0.1 STAR Rebecca Foulger gene: STAR was added
gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Fetal anomalies v0.1 STAMBP Rebecca Foulger gene: STAMBP was added
gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Fetal anomalies v0.1 STAG1 Rebecca Foulger gene: STAG1 was added
gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability
Fetal anomalies v0.1 ST3GAL5 Rebecca Foulger gene: ST3GAL5 was added
gene: ST3GAL5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME
Fetal anomalies v0.1 ST3GAL3 Rebecca Foulger gene: ST3GAL3 was added
gene: ST3GAL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS
Fetal anomalies v0.1 SRY Rebecca Foulger gene: SRY was added
gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1
Fetal anomalies v0.1 SRP54 Rebecca Foulger gene: SRP54 was added
gene: SRP54 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Fetal anomalies v0.1 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SRD5A2 Rebecca Foulger gene: SRD5A2 was added
gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
Fetal anomalies v0.1 SRCAP Rebecca Foulger gene: SRCAP was added
gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Marked gene: MAPK10 as ready
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Added comment: Comment when marking as ready: The the variant RCV000007138 has been reclassified in OMIM to a variant of unknown significance due to lack of evidence for the gene disease association.
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Gene: mapk10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1 SPTLC2 Rebecca Foulger gene: SPTLC2 was added
gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.1 SPTAN1 Rebecca Foulger gene: SPTAN1 was added
gene: SPTAN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
Fetal anomalies v0.1 SPRY4 Rebecca Foulger gene: SPRY4 was added
gene: SPRY4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SPRY4 was set to Unknown
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Fetal anomalies v0.1 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME
Fetal anomalies v0.1 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Fetal anomalies v0.1 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11
Fetal anomalies v0.1 SPEG Rebecca Foulger gene: SPEG was added
gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Fetal anomalies v0.1 SPECC1L Rebecca Foulger gene: SPECC1L was added
gene: SPECC1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1
Fetal anomalies v0.1 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 SPARC Rebecca Foulger gene: SPARC was added
gene: SPARC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII
Fetal anomalies v0.1 SPAG1 Rebecca Foulger gene: SPAG1 was added
gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Fetal anomalies v0.1 SP110 Rebecca Foulger gene: SP110 was added
gene: SP110 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550
Fetal anomalies v0.1 SOX9 Rebecca Foulger Added phenotypes CAMPOMELIC DYSPLASIA for gene: SOX9
Fetal anomalies v0.1 SOX9 Rebecca Foulger gene: SOX9 was added
gene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE
Fetal anomalies v0.1 SOX5 Rebecca Foulger gene: SOX5 was added
gene: SOX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SOX3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY for gene: SOX3
Fetal anomalies v0.1 SOX3 Rebecca Foulger gene: SOX3 was added
gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX3 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: SOX3 were set to SEX REVERSAL TYPE 3
Fetal anomalies v0.1 SOX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA SYNDROMIC TYPE 3 for gene: SOX2
Fetal anomalies v0.1 SOX2 Rebecca Foulger gene: SOX2 was added
gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to AEG SYNDROME
Fetal anomalies v0.1 SOX17 Rebecca Foulger gene: SOX17 was added
gene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3
Fetal anomalies v0.1 SOX11 Rebecca Foulger gene: SOX11 was added
gene: SOX11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes KALLMANN SYNDROME WITH DEAFNESS for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Fetal anomalies v0.1 SOST Rebecca Foulger gene: SOST was added
gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860
Fetal anomalies v0.1 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4
Fetal anomalies v0.1 SON Rebecca Foulger gene: SON was added
gene: SON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive
Fetal anomalies v0.1 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 SNRPE Rebecca Foulger gene: SNRPE was added
gene: SNRPE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Fetal anomalies v0.1 SNRPB Rebecca Foulger gene: SNRPB was added
gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
Fetal anomalies v0.1 SNORD118 Rebecca Foulger gene: SNORD118 was added
gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts
Fetal anomalies v0.1 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME
Fetal anomalies v0.1 SNAP25 Rebecca Foulger gene: SNAP25 was added
gene: SNAP25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 SMS Rebecca Foulger gene: SMS was added
gene: SMS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME
Fetal anomalies v0.1 SMPD1 Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B for gene: SMPD1
Fetal anomalies v0.1 SMPD1 Rebecca Foulger gene: SMPD1 was added
gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A
Fetal anomalies v0.1 SMOC2 Rebecca Foulger gene: SMOC2 was added
gene: SMOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH
Fetal anomalies v0.1 SMOC1 Rebecca Foulger gene: SMOC1 was added
gene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME
Fetal anomalies v0.1 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMO were set to Curry-Jones Syndrome
Fetal anomalies v0.1 SMN1 Rebecca Foulger gene: SMN1 was added
gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300
Fetal anomalies v0.1 SMG9 Rebecca Foulger gene: SMG9 was added
gene: SMG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome
Fetal anomalies v0.1 SMCHD1 Rebecca Foulger gene: SMCHD1 was added
gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.1 SMC3 Rebecca Foulger gene: SMC3 was added
gene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3
Fetal anomalies v0.1 SMC1A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: SMC1A
Fetal anomalies v0.1 SMC1A Rebecca Foulger gene: SMC1A was added
gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC1A 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: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2
Fetal anomalies v0.1 SMARCE1 Rebecca Foulger gene: SMARCE1 was added
gene: SMARCE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCB1 Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME for gene: SMARCB1
Fetal anomalies v0.1 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1
Fetal anomalies v0.1 SMARCAL1 Rebecca Foulger gene: SMARCAL1 was added
gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Fetal anomalies v0.1 SMARCA4 Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 for gene: SMARCA4
Fetal anomalies v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCA2 Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME for gene: SMARCA2
Fetal anomalies v0.1 SMARCA2 Rebecca Foulger gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS SYNDROME for gene: SMAD4
Fetal anomalies v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME for gene: SMAD4
Fetal anomalies v0.1 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME
Fetal anomalies v0.1 SMAD3 Rebecca Foulger gene: SMAD3 was added
gene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P
Fetal anomalies v0.1 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
Fetal anomalies v0.1 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
Fetal anomalies v0.1 SLC6A8 Rebecca Foulger gene: SLC6A8 was added
gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME
Fetal anomalies v0.1 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA
Fetal anomalies v0.1 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE
Fetal anomalies v0.1 SLC6A17 Rebecca Foulger gene: SLC6A17 was added
gene: SLC6A17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Fetal anomalies v0.1 SLC6A1 Rebecca Foulger gene: SLC6A1 was added
gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Fetal anomalies v0.1 SLC5A7 Rebecca Foulger gene: SLC5A7 was added
gene: SLC5A7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea
Fetal anomalies v0.1 SLC5A5 Rebecca Foulger gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I
Fetal anomalies v0.1 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME
Fetal anomalies v0.1 SLC4A4 Rebecca Foulger gene: SLC4A4 was added
gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Fetal anomalies v0.1 SLC4A11 Rebecca Foulger gene: SLC4A11 was added
gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Fetal anomalies v0.1 SLC4A1 Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR for gene: SLC4A1
Fetal anomalies v0.1 SLC4A1 Rebecca Foulger gene: SLC4A1 was added
gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD
Fetal anomalies v0.1 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION
Fetal anomalies v0.1 SLC45A1 Rebecca Foulger gene: SLC45A1 was added
gene: SLC45A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy
Fetal anomalies v0.1 SLC39A8 Rebecca Foulger gene: SLC39A8 was added
gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.1 SLC39A13 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA for gene: SLC39A13
Fetal anomalies v0.1 SLC39A13 Rebecca Foulger gene: SLC39A13 was added
gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
Fetal anomalies v0.1 SLC37A4 Rebecca Foulger gene: SLC37A4 was added
gene: SLC37A4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220
Fetal anomalies v0.1 SLC35D1 Rebecca Foulger gene: SLC35D1 was added
gene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA
Fetal anomalies v0.1 SLC35C1 Rebecca Foulger gene: SLC35C1 was added
gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Fetal anomalies v0.1 SLC35A2 Rebecca Foulger gene: SLC35A2 was added
gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION
Fetal anomalies v0.1 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Fetal anomalies v0.1 SLC2A2 Rebecca Foulger gene: SLC2A2 was added
gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME
Fetal anomalies v0.1 SLC2A10 Rebecca Foulger gene: SLC2A10 was added
gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME
Fetal anomalies v0.1 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 for gene: SLC2A1
Fetal anomalies v0.1 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1
Fetal anomalies v0.1 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME
Fetal anomalies v0.1 SLC26A3 Rebecca Foulger gene: SLC26A3 was added
gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger gene: SLC26A2 was added
gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B
Fetal anomalies v0.1 SLC25A4 Rebecca Foulger gene: SLC25A4 was added
gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.1 SLC25A38 Rebecca Foulger gene: SLC25A38 was added
gene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SLC25A26 Rebecca Foulger gene: SLC25A26 was added
gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Fetal anomalies v0.1 SLC25A24 Rebecca Foulger gene: SLC25A24 was added
gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.1 SLC25A22 Rebecca Foulger gene: SLC25A22 was added
gene: SLC25A22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Fetal anomalies v0.1 SLC25A20 Rebecca Foulger gene: SLC25A20 was added
gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Fetal anomalies v0.1 SLC25A19 Rebecca Foulger gene: SLC25A19 was added
gene: SLC25A19 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY
Fetal anomalies v0.1 SLC25A15 Rebecca Foulger gene: SLC25A15 was added
gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Fetal anomalies v0.1 SLC24A4 Rebecca Foulger gene: SLC24A4 was added
gene: SLC24A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.
Fetal anomalies v0.1 SLC22A5 Rebecca Foulger gene: SLC22A5 was added
gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY
Fetal anomalies v0.1 SLC1A2 Rebecca Foulger gene: SLC1A2 was added
gene: SLC1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
Fetal anomalies v0.1 SLC17A5 Rebecca Foulger Added phenotypes INFANTILE SIALIC ACID STORAGE DISORDER for gene: SLC17A5
Fetal anomalies v0.1 SLC17A5 Rebecca Foulger gene: SLC17A5 was added
gene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to SALLA DISEASE
Fetal anomalies v0.1 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Fetal anomalies v0.1 SLC13A5 Rebecca Foulger gene: SLC13A5 was added
gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Fetal anomalies v0.1 SLC12A6 Rebecca Foulger gene: SLC12A6 was added
gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Fetal anomalies v0.1 SLC12A1 Rebecca Foulger gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678
Fetal anomalies v0.1 SKIV2L Rebecca Foulger gene: SKIV2L was added
gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2
Fetal anomalies v0.1 SKI Rebecca Foulger gene: SKI was added
gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.1 SIX5 Rebecca Foulger gene: SIX5 was added
gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2
Fetal anomalies v0.1 SIX3 Rebecca Foulger gene: SIX3 was added
gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 SIX1 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 23 for gene: SIX1
Fetal anomalies v0.1 SIX1 Rebecca Foulger gene: SIX1 was added
gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3
Fetal anomalies v0.1 SIN3A Rebecca Foulger gene: SIN3A was added
gene: SIN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME
Fetal anomalies v0.1 SIK1 Rebecca Foulger gene: SIK1 was added
gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM
Fetal anomalies v0.1 SHROOM3 Rebecca Foulger gene: SHROOM3 was added
gene: SHROOM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT
Fetal anomalies v0.1 SHOX Rebecca Foulger Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS for gene: SHOX
Fetal anomalies v0.1 SHOX Rebecca Foulger gene: SHOX was added
gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA
Fetal anomalies v0.1 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes HOLOPROSENCEPHALY TYPE 3 for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger gene: SHH was added
gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
Fetal anomalies v0.1 SHANK3 Rebecca Foulger gene: SHANK3 was added
gene: SHANK3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME
Fetal anomalies v0.1 SHANK2 Rebecca Foulger gene: SHANK2 was added
gene: SHANK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17
Fetal anomalies v0.1 SHANK1 Rebecca Foulger gene: SHANK1 was added
gene: SHANK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK1 were set to AUTISM
Fetal anomalies v0.1 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME
Fetal anomalies v0.1 SGSH Rebecca Foulger gene: SGSH was added
gene: SGSH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A
Fetal anomalies v0.1 SGCA Rebecca Foulger gene: SGCA was added
gene: SGCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099
Fetal anomalies v0.1 SF3B4 Rebecca Foulger gene: SF3B4 was added
gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Fetal anomalies v0.1 SETD5 Rebecca Foulger gene: SETD5 was added
gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Fetal anomalies v0.1 SETD2 Rebecca Foulger gene: SETD2 was added
gene: SETD2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome
Fetal anomalies v0.1 SETD1A Rebecca Foulger gene: SETD1A was added
gene: SETD1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SETBP1 Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1
Fetal anomalies v0.1 SETBP1 Rebecca Foulger gene: SETBP1 was added
gene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Fetal anomalies v0.1 SET Rebecca Foulger gene: SET was added
gene: SET was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SET were set to SET syndrome
Fetal anomalies v0.1 SELENON Rebecca Foulger gene: SELENON was added
gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771
Fetal anomalies v0.1 SECISBP2 Rebecca Foulger gene: SECISBP2 was added
gene: SECISBP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL
Fetal anomalies v0.1 SEC24D Rebecca Foulger gene: SEC24D was added
gene: SEC24D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 SEC23B Rebecca Foulger gene: SEC23B was added
gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Fetal anomalies v0.1 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY
Fetal anomalies v0.1 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to LEIGH SYNDROME
Fetal anomalies v0.1 SDCCAG8 Rebecca Foulger gene: SDCCAG8 was added
gene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7
Fetal anomalies v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Fetal anomalies v0.1 SCO2 Rebecca Foulger gene: SCO2 was added
gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.1 SCO1 Rebecca Foulger gene: SCO1 was added
gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 SCN8A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 for gene: SCN8A
Fetal anomalies v0.1 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Fetal anomalies v0.1 SCN4A Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG for gene: SCN4A
Fetal anomalies v0.1 SCN4A Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 for gene: SCN4A
Fetal anomalies v0.1 SCN4A Rebecca Foulger gene: SCN4A was added
gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS
Fetal anomalies v0.1 SCN3A Rebecca Foulger gene: SCN3A was added
gene: SCN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN3A were set to Focal epilepsy
Fetal anomalies v0.1 SCN2A Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A
Fetal anomalies v0.1 SCN2A Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES for gene: SCN2A
Fetal anomalies v0.1 SCN2A Rebecca Foulger gene: SCN2A was added
gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.1 SCN1B Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 for gene: SCN1B
Fetal anomalies v0.1 SCN1B Rebecca Foulger gene: SCN1B was added
gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1
Fetal anomalies v0.1 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS
Fetal anomalies v0.1 SCN11A Rebecca Foulger gene: SCN11A was added
gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN
Fetal anomalies v0.1 SCARF2 Rebecca Foulger gene: SCARF2 was added
gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME
Fetal anomalies v0.1 SC5D Rebecca Foulger gene: SC5D was added
gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS
Fetal anomalies v0.1 SBDS Rebecca Foulger gene: SBDS was added
gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME
Fetal anomalies v0.1 SATB2 Rebecca Foulger Added phenotypes NONSPECIFIC SEVERE ID for gene: SATB2
Fetal anomalies v0.1 SATB2 Rebecca Foulger Added phenotypes SYNDROMAL PIERRE ROBIN SEQUENCE for gene: SATB2
Fetal anomalies v0.1 SATB2 Rebecca Foulger gene: SATB2 was added
gene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED
Fetal anomalies v0.1 SASS6 Rebecca Foulger gene: SASS6 was added
gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 24951542
Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402
Fetal anomalies v0.1 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME
Fetal anomalies v0.1 SALL4 Rebecca Foulger Added phenotypes DUANE-RADIAL RAY SYNDROME for gene: SALL4
Fetal anomalies v0.1 SALL4 Rebecca Foulger gene: SALL4 was added
gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME
Fetal anomalies v0.1 SALL1 Rebecca Foulger gene: SALL1 was added
gene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME
Fetal anomalies v0.1 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Fetal anomalies v0.1 RYR1 Rebecca Foulger gene: RYR1 was added
gene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Fetal anomalies v0.1 TMEM5 Rebecca Foulger gene: TMEM5 was added
gene: TMEM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY
Fetal anomalies v0.1 RUNX2 Rebecca Foulger gene: RUNX2 was added
gene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA
Fetal anomalies v0.1 RTTN Rebecca Foulger gene: RTTN was added
gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA
Fetal anomalies v0.1 RTN4IP1 Rebecca Foulger gene: RTN4IP1 was added
gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Fetal anomalies v0.1 RTEL1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 for gene: RTEL1
Fetal anomalies v0.1 RTEL1 Rebecca Foulger gene: RTEL1 was added
gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Fetal anomalies v0.1 RSPRY1 Rebecca Foulger gene: RSPRY1 was added
gene: RSPRY1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Fetal anomalies v0.1 RSPO4 Rebecca Foulger gene: RSPO4 was added
gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA
Fetal anomalies v0.1 RSPH9 Rebecca Foulger gene: RSPH9 was added
gene: RSPH9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650
Fetal anomalies v0.1 RSPH4A Rebecca Foulger gene: RSPH4A was added
gene: RSPH4A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649
Fetal anomalies v0.1 RSPH3 Rebecca Foulger gene: RSPH3 was added
gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Fetal anomalies v0.1 RSPH1 Rebecca Foulger gene: RSPH1 was added
gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Fetal anomalies v0.1 RRM2B Rebecca Foulger gene: RRM2B was added
gene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome
Fetal anomalies v0.1 RRAS Rebecca Foulger gene: RRAS was added
gene: RRAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME
Fetal anomalies v0.1 RPS6KA3 Rebecca Foulger Added phenotypes COFFIN-LOWRY SYNDROME for gene: RPS6KA3
Fetal anomalies v0.1 RPS6KA3 Rebecca Foulger gene: RPS6KA3 was added
gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to COFFIN-LOWRY SYNDROME
Fetal anomalies v0.1 RPS26 Rebecca Foulger gene: RPS26 was added
gene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309
Fetal anomalies v0.1 RPS24 Rebecca Foulger gene: RPS24 was added
gene: RPS24 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3 610629
Fetal anomalies v0.1 RPS23 Rebecca Foulger gene: RPS23 was added
gene: RPS23 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Fetal anomalies v0.1 RPS19 Rebecca Foulger gene: RPS19 was added
gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Fetal anomalies v0.1 RPS17 Rebecca Foulger gene: RPS17 was added
gene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527
Fetal anomalies v0.1 RPS10 Rebecca Foulger gene: RPS10 was added
gene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308
Fetal anomalies v0.1 RPL5 Rebecca Foulger gene: RPL5 was added
gene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561
Fetal anomalies v0.1 RPL35A Rebecca Foulger gene: RPL35A was added
gene: RPL35A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5 612528
Fetal anomalies v0.1 RPL11 Rebecca Foulger Source PAGE Additional Gene List was added to RPL11.
Added phenotypes Diamond-Blackfan anemia 7 612562 for gene: RPL11
Fetal anomalies v0.1 RPL11 Rebecca Foulger gene: RPL11 was added
gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 7 for gene: RPGRIP1L
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 5 for gene: RPGRIP1L
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger gene: RPGRIP1L was added
gene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME
Fetal anomalies v0.1 RPGRIP1 Rebecca Foulger Added phenotypes CONE-ROD DYSTROPHY 13 for gene: RPGRIP1
Fetal anomalies v0.1 RPGRIP1 Rebecca Foulger gene: RPGRIP1 was added
gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6
Fetal anomalies v0.1 RPE65 Rebecca Foulger gene: RPE65 was added
gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 RORA Rebecca Foulger gene: RORA was added
gene: RORA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ROR2 Rebecca Foulger Added phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT for gene: ROR2
Fetal anomalies v0.1 ROR2 Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE B1 for gene: ROR2
Fetal anomalies v0.1 ROR2 Rebecca Foulger gene: ROR2 was added
gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR
Fetal anomalies v0.1 ROGDI Rebecca Foulger gene: ROGDI was added
gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME
Fetal anomalies v0.1 ROBO1 Rebecca Foulger gene: ROBO1 was added
gene: ROBO1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO1 were set to 28592524; 28485101
Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects
Fetal anomalies v0.1 RNU4ATAC Rebecca Foulger gene: RNU4ATAC was added
gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.1 RNASET2 Rebecca Foulger gene: RNASET2 was added
gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Fetal anomalies v0.1 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3
Fetal anomalies v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2
Fetal anomalies v0.1 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4
Fetal anomalies v0.1 RMRP Rebecca Foulger gene: RMRP was added
gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA
Fetal anomalies v0.1 RMND1 Rebecca Foulger gene: RMND1 was added
gene: RMND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT
Fetal anomalies v0.1 RLIM Rebecca Foulger gene: RLIM was added
gene: RLIM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8
Fetal anomalies v0.1 RIPK4 Rebecca Foulger gene: RIPK4 was added
gene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Fetal anomalies v0.1 RIN2 Rebecca Foulger gene: RIN2 was added
gene: RIN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Fetal anomalies v0.1 RFX6 Rebecca Foulger gene: RFX6 was added
gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME
Fetal anomalies v0.1 RFT1 Rebecca Foulger gene: RFT1 was added
gene: RFT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N
Fetal anomalies v0.1 RETREG1 Rebecca Foulger gene: RETREG1 was added
gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Fetal anomalies v0.1 RET Rebecca Foulger Added phenotypes MULTIPLE ENDOCRINE NEOPLASIA IIB for gene: RET
Fetal anomalies v0.1 RET Rebecca Foulger gene: RET was added
gene: RET was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to RENAL AGENESIS
Fetal anomalies v0.1 RERE Rebecca Foulger gene: RERE was added
gene: RERE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions
Fetal anomalies v0.1 REN Rebecca Foulger gene: REN was added
gene: REN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.1 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to LISSENCEPHALY 2
Fetal anomalies v0.1 RECQL4 Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME for gene: RECQL4
Fetal anomalies v0.1 RECQL4 Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME for gene: RECQL4
Fetal anomalies v0.1 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME
Fetal anomalies v0.1 RBPJ Rebecca Foulger gene: RBPJ was added
gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.1 RBM8A Rebecca Foulger gene: RBM8A was added
gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Fetal anomalies v0.1 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP SYNDROME
Fetal anomalies v0.1 RAX Rebecca Foulger gene: RAX was added
gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3
Fetal anomalies v0.1 RASA1 Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION for gene: RASA1
Fetal anomalies v0.1 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME
Fetal anomalies v0.1 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6
Fetal anomalies v0.1 RARB Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB
Fetal anomalies v0.1 RARB Rebecca Foulger gene: RARB was added
gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Fetal anomalies v0.1 RAPSN Rebecca Foulger Added phenotypes FETAL AKINESIA DEFORMATION SEQUENCE for gene: RAPSN
Fetal anomalies v0.1 RAPSN Rebecca Foulger gene: RAPSN was added
gene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Fetal anomalies v0.1 RAI1 Rebecca Foulger gene: RAI1 was added
gene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME
Fetal anomalies v0.1 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5
Fetal anomalies v0.1 RAD51C Rebecca Foulger gene: RAD51C was added
gene: RAD51C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Fetal anomalies v0.1 RAD51 Rebecca Foulger gene: RAD51 was added
gene: RAD51 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2
Fetal anomalies v0.1 RAD21 Rebecca Foulger gene: RAD21 was added
gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD21 were set to COHESINOPATHY
Fetal anomalies v0.1 RAC1 Rebecca Foulger gene: RAC1 was added
gene: RAC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes
Fetal anomalies v0.1 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME
Fetal anomalies v0.1 RAB3GAP1 Rebecca Foulger gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1
Fetal anomalies v0.1 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS
Fetal anomalies v0.1 RAB23 Rebecca Foulger gene: RAB23 was added
gene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Fetal anomalies v0.1 RAB18 Rebecca Foulger gene: RAB18 was added
gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3
Fetal anomalies v0.1 RAB11B Rebecca Foulger gene: RAB11B was added
gene: RAB11B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RAB11A Rebecca Foulger gene: RAB11A was added
gene: RAB11A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 QRICH1 Rebecca Foulger gene: QRICH1 was added
gene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: QRICH1 were set to QRICH1 syndrome
Fetal anomalies v0.1 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Fetal anomalies v0.1 QARS Rebecca Foulger gene: QARS was added
gene: QARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Fetal anomalies v0.1 PYROXD1 Rebecca Foulger gene: PYROXD1 was added
gene: PYROXD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Fetal anomalies v0.1 PYGL Rebecca Foulger gene: PYGL was added
gene: PYGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI
Fetal anomalies v0.1 PYCR2 Rebecca Foulger gene: PYCR2 was added
gene: PYCR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Fetal anomalies v0.1 PYCR1 Rebecca Foulger gene: PYCR1 was added
gene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Fetal anomalies v0.1 PXDN Rebecca Foulger gene: PXDN was added
gene: PXDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Fetal anomalies v0.1 PURA Rebecca Foulger gene: PURA was added
gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PUF60 Rebecca Foulger gene: PUF60 was added
gene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PUF60 were set to PUF60 syndrome
Fetal anomalies v0.1 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Fetal anomalies v0.1 PTPN14 Rebecca Foulger gene: PTPN14 was added
gene: PTPN14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA
Fetal anomalies v0.1 PTPN11 Rebecca Foulger Added phenotypes NOONAN SYNDROME 1 for gene: PTPN11
Fetal anomalies v0.1 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1
Fetal anomalies v0.1 PTHLH Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 for gene: PTHLH
Fetal anomalies v0.1 PTHLH Rebecca Foulger gene: PTHLH was added
gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger gene: PTH1R was added
gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION
Fetal anomalies v0.1 PTH Rebecca Foulger gene: PTH was added
gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM
Fetal anomalies v0.1 PTF1A Rebecca Foulger Added phenotypes PANCREATIC AGENESIS for gene: PTF1A
Fetal anomalies v0.1 PTF1A Rebecca Foulger gene: PTF1A was added
gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes MACROCEPHALY/AUTISM SYNDROME for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes PROTEUS SYNDROME for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes LHERMITTE-DUCLOS DISEASE for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes COWDEN DISEASE for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME
Fetal anomalies v0.1 PTDSS1 Rebecca Foulger gene: PTDSS1 was added
gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.1 PTCHD1 Rebecca Foulger gene: PTCHD1 was added
gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PTCHD1 were set to AUTISM/ID
Fetal anomalies v0.1 PTCH1 Rebecca Foulger Added phenotypes BASAL CELL NEVUS SYNDROME for gene: PTCH1
Fetal anomalies v0.1 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7
Fetal anomalies v0.1 PSPH Rebecca Foulger Added phenotypes NEU-LAXOVA for gene: PSPH
Fetal anomalies v0.1 PSPH Rebecca Foulger gene: PSPH was added
gene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Fetal anomalies v0.1 PSMB8 Rebecca Foulger gene: PSMB8 was added
gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME
Fetal anomalies v0.1 PSAT1 Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME for gene: PSAT1
Fetal anomalies v0.1 PSAT1 Rebecca Foulger gene: PSAT1 was added
gene: PSAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 PSAP Rebecca Foulger gene: PSAP was added
gene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE
Fetal anomalies v0.1 PRX Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: PRX
Fetal anomalies v0.1 PRX Rebecca Foulger gene: PRX was added
gene: PRX was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895
Fetal anomalies v0.1 PRUNE1 Rebecca Foulger gene: PRUNE1 was added
gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to PEHO Like condition
Fetal anomalies v0.1 PRSS56 Rebecca Foulger gene: PRSS56 was added
gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6
Fetal anomalies v0.1 PRSS12 Rebecca Foulger gene: PRSS12 was added
gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
Fetal anomalies v0.1 PRRT2 Rebecca Foulger Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME for gene: PRRT2
Fetal anomalies v0.1 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes ARTS SYNDROME for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes DEAFNESS X-LINKED TYPE 1 for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger gene: PRPS1 was added
gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
Fetal anomalies v0.1 PROP1 Rebecca Foulger gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PROKR2 Rebecca Foulger gene: PROKR2 was added
gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Fetal anomalies v0.1 PROK2 Rebecca Foulger Added phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 for gene: PROK2
Fetal anomalies v0.1 PROK2 Rebecca Foulger gene: PROK2 was added
gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Fetal anomalies v0.1 PRMT7 Rebecca Foulger gene: PRMT7 was added
gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
Fetal anomalies v0.1 PRKD1 Rebecca Foulger gene: PRKD1 was added
gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Fetal anomalies v0.1 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS
Fetal anomalies v0.1 PRG4 Rebecca Foulger gene: PRG4 was added
gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Fetal anomalies v0.1 PREPL Rebecca Foulger gene: PREPL was added
gene: PREPL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME
Fetal anomalies v0.1 PRDM12 Rebecca Foulger gene: PRDM12 was added
gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Fetal anomalies v0.1 PQBP1 Rebecca Foulger gene: PQBP1 was added
gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1
Fetal anomalies v0.1 PPT1 Rebecca Foulger gene: PPT1 was added
gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
Fetal anomalies v0.1 PPP3CA Rebecca Foulger gene: PPP3CA was added
gene: PPP3CA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures
Fetal anomalies v0.1 PPP2R5D Rebecca Foulger gene: PPP2R5D was added
gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP2R1A Rebecca Foulger gene: PPP2R1A was added
gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP1CB Rebecca Foulger gene: PPP1CB was added
gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.1 PPM1D Rebecca Foulger gene: PPM1D was added
gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPM1D were set to PPM1D syndrome
Fetal anomalies v0.1 PPIB Rebecca Foulger gene: PPIB was added
gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440
Fetal anomalies v0.1 PPA2 Rebecca Foulger gene: PPA2 was added
gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Fetal anomalies v0.1 POU1F1 Rebecca Foulger gene: POU1F1 was added
gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
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
Fetal anomalies v0.1 POR Rebecca Foulger Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 for gene: POR
Fetal anomalies v0.1 POR Rebecca Foulger gene: POR was added
gene: POR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Fetal anomalies v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 for gene: POMT2
Fetal anomalies v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 for gene: POMT2
Fetal anomalies v0.1 POMT2 Rebecca Foulger gene: POMT2 was added
gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2
Fetal anomalies v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 for gene: POMT1
Fetal anomalies v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 for gene: POMT1
Fetal anomalies v0.1 POMT1 Rebecca Foulger gene: POMT1 was added
gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
Fetal anomalies v0.1 POMK Rebecca Foulger gene: POMK was added
gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Fetal anomalies v0.1 POMGNT2 Rebecca Foulger gene: POMGNT2 was added
gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 for gene: POMGNT1
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 for gene: POMGNT1
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger gene: POMGNT1 was added
gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3
Fetal anomalies v0.1 POLR3B Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B
Fetal anomalies v0.1 POLR3B Rebecca Foulger gene: POLR3B was added
gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR1D Rebecca Foulger gene: POLR1D was added
gene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2
Fetal anomalies v0.1 POLR1C Rebecca Foulger gene: POLR1C was added
gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3
Fetal anomalies v0.1 POLR1A Rebecca Foulger gene: POLR1A was added
gene: POLR1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Fetal anomalies v0.1 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A
Fetal anomalies v0.1 POLD1 Rebecca Foulger gene: POLD1 was added
gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.1 POGZ Rebecca Foulger gene: POGZ was added
gene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 POC1B Rebecca Foulger gene: POC1B was added
gene: POC1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Fetal anomalies v0.1 POC1A Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM for gene: POC1A
Fetal anomalies v0.1 POC1A Rebecca Foulger gene: POC1A was added
gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Fetal anomalies v0.1 PNPT1 Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1
Fetal anomalies v0.1 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER
Fetal anomalies v0.1 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS
Fetal anomalies v0.1 PNKP Rebecca Foulger Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 for gene: PNKP
Fetal anomalies v0.1 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Fetal anomalies v0.1 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Roussy-Levy syndrome 180800 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Neuropathy, recurrent, with pressure palsies 162500 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Neuropathy, inflammatory demyelinating 139393 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 1E 118300 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger gene: PMP22 was added
gene: PMP22 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease, type 1A 118220
Fetal anomalies v0.1 PMM2 Rebecca Foulger gene: PMM2 was added
gene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 PLPBP Rebecca Foulger gene: PLPBP was added
gene: PLPBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy
Fetal anomalies v0.1 PLP1 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 for gene: PLP1
Fetal anomalies v0.1 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1
Fetal anomalies v0.1 PLOD2 Rebecca Foulger gene: PLOD2 was added
gene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2
Fetal anomalies v0.1 PLOD1 Rebecca Foulger gene: PLOD1 was added
gene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Fetal anomalies v0.1 PLK4 Rebecca Foulger gene: PLK4 was added
gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Fetal anomalies v0.1 PLCE1 Rebecca Foulger gene: PLCE1 was added
gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3
Fetal anomalies v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 PLCB1 Rebecca Foulger gene: PLCB1 was added
gene: PLCB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Fetal anomalies v0.1 PLAA Rebecca Foulger gene: PLAA was added
gene: PLAA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy
Fetal anomalies v0.1 PLA2G6 Rebecca Foulger Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 for gene: PLA2G6
Fetal anomalies v0.1 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Fetal anomalies v0.1 PKLR Rebecca Foulger gene: PKLR was added
gene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200
Fetal anomalies v0.1 PKHD1 Rebecca Foulger gene: PKHD1 was added
gene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 PKD2 Rebecca Foulger gene: PKD2 was added
gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095
Fetal anomalies v0.1 PKD1L1 Rebecca Foulger gene: PKD1L1 was added
gene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Laterality defects
Fetal anomalies v0.1 PKD1 Rebecca Foulger gene: PKD1 was added
gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD1 were set to Polycystic kidney disease 173900
Fetal anomalies v0.1 PITX3 Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT for gene: PITX3
Fetal anomalies v0.1 PITX3 Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: PITX3
Fetal anomalies v0.1 PITX3 Rebecca Foulger gene: PITX3 was added
gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4