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Severe Paediatric Disorders v1.65 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Severe Paediatric Disorders v1.57 MSMO1 Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Severe Paediatric Disorders v0.12 SMO Louise Daugherty reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 SMOC1 Louise Daugherty reviewed gene: SMOC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MSMO1 Louise Daugherty reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 SMO Louise Daugherty Publications for gene SMO were updated from to 30847515
Severe Paediatric Disorders v0.11 SMOC1 Louise Daugherty Publications for gene SMOC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSMO1 Louise Daugherty Publications for gene MSMO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSMO1 Louise Daugherty Mode of inheritance for gene MSMO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.10 RNF31 Louise Daugherty Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.10 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.10 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.10 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.10 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.10 TMCO1 Louise Daugherty Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.10 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.10 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.10 SETD1B Louise Daugherty Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.10 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.10 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.10 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.10 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
Severe Paediatric Disorders v0.10 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.10 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.10 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.10 KCNK9 Louise Daugherty Added phenotypes Birk-Barel mental retardation dysmorphism syndrome, 612292 for gene: KCNK9
Severe Paediatric Disorders v0.10 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.10 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.10 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
Severe Paediatric Disorders v0.10 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.10 HERC1 Louise Daugherty Added phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 for gene: HERC1
Severe Paediatric Disorders v0.10 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.10 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.10 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.10 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.10 CDK13 Louise Daugherty Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13
Severe Paediatric Disorders v0.10 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.10 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.10 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.10 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.10 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
Severe Paediatric Disorders v0.10 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.10 ADNP Louise Daugherty Added phenotypes Helsmoortel-van der Aa syndrome, 615873 for gene: ADNP
Severe Paediatric Disorders v0.10 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 RNF31 Louise Daugherty Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.9 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.9 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.9 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.9 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.9 TMCO1 Louise Daugherty Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.9 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.9 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.9 SETD1B Louise Daugherty Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.9 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.9 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.9 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.9 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
Severe Paediatric Disorders v0.9 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.9 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.9 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.9 KCNK9 Louise Daugherty Added phenotypes Birk-Barel mental retardation dysmorphism syndrome, 612292 for gene: KCNK9
Severe Paediatric Disorders v0.9 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
Severe Paediatric Disorders v0.9 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.9 HERC1 Louise Daugherty Added phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 for gene: HERC1
Severe Paediatric Disorders v0.9 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.9 CDK13 Louise Daugherty Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13
Severe Paediatric Disorders v0.9 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.9 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.9 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 ADNP Louise Daugherty Added phenotypes Helsmoortel-van der Aa syndrome, 615873 for gene: ADNP
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.9 RNF31 Louise Daugherty Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.9 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.9 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.9 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.9 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.9 TMCO1 Louise Daugherty Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.9 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.9 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.9 SETD1B Louise Daugherty Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.9 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.9 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.9 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.9 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
Severe Paediatric Disorders v0.9 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.9 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.9 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.9 KCNK9 Louise Daugherty Added phenotypes Birk-Barel mental retardation dysmorphism syndrome, 612292 for gene: KCNK9
Severe Paediatric Disorders v0.9 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.9 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.9 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
Severe Paediatric Disorders v0.9 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.9 HERC1 Louise Daugherty Added phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 for gene: HERC1
Severe Paediatric Disorders v0.9 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.9 CDK13 Louise Daugherty Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13
Severe Paediatric Disorders v0.9 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.9 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.9 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.9 BCL11B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092; Immunodeficiency 49, 617237 for gene: BCL11B
Severe Paediatric Disorders v0.9 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 ADNP Louise Daugherty Added phenotypes Helsmoortel-van der Aa syndrome, 615873 for gene: ADNP
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.8 SMO Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.8 RNF31 Louise Daugherty Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.8 ZNF148 Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.8 ZMIZ1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.8 TRRAP Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.8 TMEM94 Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.8 TMCO1 Louise Daugherty Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.8 TBCE Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 for gene: TBCE
Severe Paediatric Disorders v0.8 SMOC1 Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.8 SETD1B Louise Daugherty Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.8 RAC3 Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
Severe Paediatric Disorders v0.8 POC1A Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
Severe Paediatric Disorders v0.8 PHIP Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
Severe Paediatric Disorders v0.8 OTUD6B Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
Severe Paediatric Disorders v0.8 MYO18B Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
Severe Paediatric Disorders v0.8 MTOR Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
Severe Paediatric Disorders v0.8 MSMO1 Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
Severe Paediatric Disorders v0.8 KCNK9 Louise Daugherty Added phenotypes Birk-Barel mental retardation dysmorphism syndrome, 612292 for gene: KCNK9
Severe Paediatric Disorders v0.8 KCNK4 Louise Daugherty Added phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 for gene: KCNK4
Severe Paediatric Disorders v0.8 ITCH Louise Daugherty Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 for gene: ITCH
Severe Paediatric Disorders v0.8 INTS1 Louise Daugherty Added phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 for gene: INTS1
Severe Paediatric Disorders v0.8 INPPL1 Louise Daugherty Added phenotypes Opsismodysplasia, 258480 for gene: INPPL1
Severe Paediatric Disorders v0.8 HERC1 Louise Daugherty Added phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 for gene: HERC1
Severe Paediatric Disorders v0.8 FBXO11 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 for gene: FBXO11
Severe Paediatric Disorders v0.8 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.8 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.8 CTDP1 Louise Daugherty Added phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 for gene: CTDP1
Severe Paediatric Disorders v0.8 CDK13 Louise Daugherty Added phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 for gene: CDK13
Severe Paediatric Disorders v0.8 BRPF1 Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 for gene: BRPF1
Severe Paediatric Disorders v0.8 BPTF Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 for gene: BPTF
Severe Paediatric Disorders v0.8 BMP2 Louise Daugherty Added phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Brachydactyly, type A2, 112600 for gene: BMP2
Severe Paediatric Disorders v0.8 BCL11B Louise Daugherty Added phenotypes Immunodeficiency 49, 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 for gene: BCL11B
Severe Paediatric Disorders v0.8 B3GAT3 Louise Daugherty Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 for gene: B3GAT3
Severe Paediatric Disorders v0.8 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Desmoid disease, hereditary, 135290; Adenomatous polyposis coli, 175100; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.8 ADNP Louise Daugherty Added phenotypes Helsmoortel-van der Aa syndrome, 615873 for gene: ADNP
Severe Paediatric Disorders v0.8 ACTA2 Louise Daugherty Added phenotypes Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042; Multisystemic smooth muscle dysfunction syndrome, 613834 for gene: ACTA2
Severe Paediatric Disorders v0.8 SMO Louise Daugherty Mode of inheritance for gene SMO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
Severe Paediatric Disorders v0.8 RNF31 Louise Daugherty Mode of inheritance for gene RNF31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
Severe Paediatric Disorders v0.8 ZNF148 Louise Daugherty Mode of inheritance for gene ZNF148 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
Severe Paediatric Disorders v0.8 ZMIZ1 Louise Daugherty Mode of inheritance for gene ZMIZ1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
Severe Paediatric Disorders v0.8 TRRAP Louise Daugherty Mode of inheritance for gene TRRAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
Severe Paediatric Disorders v0.8 TMEM94 Louise Daugherty Mode of inheritance for gene TMEM94 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
Severe Paediatric Disorders v0.8 TMCO1 Louise Daugherty Mode of inheritance for gene TMCO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
Severe Paediatric Disorders v0.8 TBCE Louise Daugherty Mode of inheritance for gene TBCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
Severe Paediatric Disorders v0.8 SMOC1 Louise Daugherty Mode of inheritance for gene SMOC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
Severe Paediatric Disorders v0.8 SETD1B Louise Daugherty Mode of inheritance for gene SETD1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
Severe Paediatric Disorders v0.7 SMO Louise Daugherty Source Next Generation Children Project was added to SMO.
Severe Paediatric Disorders v0.7 SMOC1 Louise Daugherty Source Next Generation Children Project was added to SMOC1.
Severe Paediatric Disorders v0.7 MSMO1 Louise Daugherty Source Next Generation Children Project was added to MSMO1.
Severe Paediatric Disorders v0.5 SMO Louise Daugherty Source Expert Review Red was added to SMO.
Severe Paediatric Disorders v0.5 SMOC1 Louise Daugherty Source Expert Review Green was added to SMOC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MSMO1 Louise Daugherty Source Expert Review Green was added to MSMO1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 SMO Louise Daugherty gene: SMO was added
gene: SMO was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SMO was set to
Severe Paediatric Disorders v0.4 SMOC1 Louise Daugherty gene: SMOC1 was added
gene: SMOC1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: SMOC1 was set to
Severe Paediatric Disorders v0.4 MSMO1 Louise Daugherty gene: MSMO1 was added
gene: MSMO1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MSMO1 was set to