Activity
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| Fetal anomalies v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE |
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| Fetal anomalies v0.1 | BGN |
Rebecca Foulger gene: BGN was added gene: BGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia |
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| Fetal anomalies v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED |
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| Fetal anomalies v0.1 | BCS1L |
Rebecca Foulger gene: BCS1L was added gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to GRACILE SYNDROME |
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| Fetal anomalies v0.1 | BCOR |
Rebecca Foulger gene: BCOR was added gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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) Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 |
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| Fetal anomalies v0.1 | BCL11A |
Rebecca Foulger gene: BCL11A was added gene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY |
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| Fetal anomalies v0.1 | BCKDHB |
Rebecca Foulger gene: BCKDHB was added gene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BCKDHA |
Rebecca Foulger gene: BCKDHA was added gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE |
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| Fetal anomalies v0.1 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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| Fetal anomalies v0.1 | BBS9 |
Rebecca Foulger gene: BBS9 was added gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS7 |
Rebecca Foulger gene: BBS7 was added gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS5 |
Rebecca Foulger gene: BBS5 was added gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS4 |
Rebecca Foulger gene: BBS4 was added gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS2 |
Rebecca Foulger gene: BBS2 was added gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS12 |
Rebecca Foulger gene: BBS12 was added gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS10 |
Rebecca Foulger gene: BBS10 was added gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BBS1 |
Rebecca Foulger gene: BBS1 was added gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME |
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| Fetal anomalies v0.1 | B9D1 |
Rebecca Foulger gene: B9D1 was added gene: B9D1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9 |
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| Fetal anomalies v0.1 | B4GALT7 |
Rebecca Foulger gene: B4GALT7 was added gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE |
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| Fetal anomalies v0.1 | B3GLCT |
Rebecca Foulger gene: B3GLCT was added gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 29096039 Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540 |
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| Fetal anomalies v0.1 | B3GAT3 |
Rebecca Foulger gene: B3GAT3 was added gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 |
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| Fetal anomalies v0.1 | B3GALT6 |
Rebecca Foulger gene: B3GALT6 was added gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | B3GALNT2 |
Rebecca Foulger gene: B3GALNT2 was added gene: B3GALNT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 |
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| Fetal anomalies v0.1 | AUTS2 |
Rebecca Foulger gene: AUTS2 was added gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY |
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| Fetal anomalies v0.1 | AUH |
Rebecca Foulger gene: AUH was added gene: AUH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 |
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| Fetal anomalies v0.1 | ATRX |
Rebecca Foulger gene: ATRX was added gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 |
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| Fetal anomalies v0.1 | ATR |
Rebecca Foulger gene: ATR was added gene: ATR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 |
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| Fetal anomalies v0.1 | ATP8B1 |
Rebecca Foulger gene: ATP8B1 was added gene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS |
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| Fetal anomalies v0.1 | ATP7A |
Rebecca Foulger gene: ATP7A was added gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME |
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| Fetal anomalies v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME |
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| Fetal anomalies v0.1 | ATP6V1B1 |
Rebecca Foulger gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS |
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| Fetal anomalies v0.1 | ATP6V0A2 |
Rebecca Foulger gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Wrinkly skin syndrome 219200; Cutis laxa, autosomal recessive, type IIA |
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| Fetal anomalies v0.1 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ATP13A2 |
Rebecca Foulger gene: ATP13A2 was added gene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA |
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| Fetal anomalies v0.1 | ATIC |
Rebecca Foulger gene: ATIC was added gene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATIC were set to AICA-RIBOSURIA |
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| Fetal anomalies v0.1 | ATAD3A |
Rebecca Foulger gene: ATAD3A was added gene: ATAD3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy |
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| Fetal anomalies v0.1 | ASXL3 |
Rebecca Foulger gene: ASXL3 was added gene: ASXL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME |
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| Fetal anomalies v0.1 | ASXL2 |
Rebecca Foulger gene: ASXL2 was added gene: ASXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features |
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| Fetal anomalies v0.1 | ASXL1 |
Rebecca Foulger gene: ASXL1 was added gene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME |
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| Fetal anomalies v0.1 | ASS1 |
Rebecca Foulger gene: ASS1 was added gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ASPM |
Rebecca Foulger gene: ASPM was added gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY |
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| Fetal anomalies v0.1 | ASPH |
Rebecca Foulger gene: ASPH was added gene: ASPH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS |
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| Fetal anomalies v0.1 | ASPA |
Rebecca Foulger gene: ASPA was added gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to CANAVAN DISEASE |
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| Fetal anomalies v0.1 | ASNS |
Rebecca Foulger gene: ASNS was added gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574 |
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| Fetal anomalies v0.1 | ASL |
Rebecca Foulger gene: ASL was added gene: ASL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY |
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| Fetal anomalies v0.1 | ASAH1 |
Rebecca Foulger gene: ASAH1 was added gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS |
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| Fetal anomalies v0.1 | ARX | Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED |
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| Fetal anomalies v0.1 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED |
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| Fetal anomalies v0.1 | ARSB |
Rebecca Foulger gene: ARSB was added gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 |
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| Fetal anomalies v0.1 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY |
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| Fetal anomalies v0.1 | ARMC9 |
Rebecca Foulger gene: ARMC9 was added gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 |
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| Fetal anomalies v0.1 | ARMC4 |
Rebecca Foulger gene: ARMC4 was added gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 |
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| Fetal anomalies v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 |
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| Fetal anomalies v0.1 | ARL13B |
Rebecca Foulger gene: ARL13B was added gene: ARL13B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8 612291 |
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| Fetal anomalies v0.1 | ARID2 |
Rebecca Foulger gene: ARID2 was added gene: ARID2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder |
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| Fetal anomalies v0.1 | ARID1B | Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 for gene: ARID1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARID1B |
Rebecca Foulger gene: ARID1B was added gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ARID1A |
Rebecca Foulger gene: ARID1A was added gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 |
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| Fetal anomalies v0.1 | ARG1 |
Rebecca Foulger gene: ARG1 was added gene: ARG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to ARGININEMIA |
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| Fetal anomalies v0.1 | ARFGEF2 |
Rebecca Foulger gene: ARFGEF2 was added gene: ARFGEF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY |
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| Fetal anomalies v0.1 | ARCN1 |
Rebecca Foulger gene: ARCN1 was added gene: ARCN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism |
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| Fetal anomalies v0.1 | AR |
Rebecca Foulger gene: AR was added gene: AR was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 |
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| Fetal anomalies v0.1 | APOPT1 |
Rebecca Foulger gene: APOPT1 was added gene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | AP4S1 |
Rebecca Foulger gene: AP4S1 was added gene: AP4S1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 |
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| Fetal anomalies v0.1 | AP4M1 |
Rebecca Foulger gene: AP4M1 was added gene: AP4M1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 |
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| Fetal anomalies v0.1 | AP4E1 |
Rebecca Foulger gene: AP4E1 was added gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 |
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| Fetal anomalies v0.1 | AP4B1 |
Rebecca Foulger gene: AP4B1 was added gene: AP4B1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 |
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| Fetal anomalies v0.1 | AP3B2 |
Rebecca Foulger gene: AP3B2 was added gene: AP3B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy |
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| Fetal anomalies v0.1 | AP3B1 |
Rebecca Foulger gene: AP3B1 was added gene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 |
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| Fetal anomalies v0.1 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 |
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| Fetal anomalies v0.1 | ANTXR2 |
Rebecca Foulger gene: ANTXR2 was added gene: ANTXR2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600 |
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| Fetal anomalies v0.1 | ANTXR1 |
Rebecca Foulger gene: ANTXR1 was added gene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME |
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| Fetal anomalies v0.1 | ANOS1 |
Rebecca Foulger gene: ANOS1 was added gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 |
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| Fetal anomalies v0.1 | ANO5 |
Rebecca Foulger gene: ANO5 was added gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ANKRD26 |
Rebecca Foulger gene: ANKRD26 was added gene: ANKRD26 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 |
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| Fetal anomalies v0.1 | ANKRD11 |
Rebecca Foulger gene: ANKRD11 was added gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD11 were set to KBG SYNDROME |
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| Fetal anomalies v0.1 | ANKH |
Rebecca Foulger gene: ANKH was added gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE |
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| Fetal anomalies v0.1 | AMT |
Rebecca Foulger gene: AMT was added gene: AMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY |
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| Fetal anomalies v0.1 | AMPD2 |
Rebecca Foulger gene: AMPD2 was added gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA |
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| Fetal anomalies v0.1 | AMER1 |
Rebecca Foulger gene: AMER1 was added gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ALX4 |
Rebecca Foulger gene: ALX4 was added gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ALX3 |
Rebecca Foulger gene: ALX3 was added gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 |
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| Fetal anomalies v0.1 | ALX1 |
Rebecca Foulger gene: ALX1 was added gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 |
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| Fetal anomalies v0.1 | ALS2 |
Rebecca Foulger gene: ALS2 was added gene: ALS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS |
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| Fetal anomalies v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA |
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| Fetal anomalies v0.1 | ALMS1 |
Rebecca Foulger gene: ALMS1 was added gene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME |
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| Fetal anomalies v0.1 | ALG9 |
Rebecca Foulger gene: ALG9 was added gene: ALG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to ALG9-CDG |
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| Fetal anomalies v0.1 | ALG8 |
Rebecca Foulger gene: ALG8 was added gene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to ALG8-CDG |
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| Fetal anomalies v0.1 | ALG6 |
Rebecca Foulger gene: ALG6 was added gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to ALG6-CDG |
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| Fetal anomalies v0.1 | ALG3 |
Rebecca Foulger gene: ALG3 was added gene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to ALG3-CDG |
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| Fetal anomalies v0.1 | ALG2 |
Rebecca Foulger gene: ALG2 was added gene: ALG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to ALG2-CDG |
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| Fetal anomalies v0.1 | ALG13 |
Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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) Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES. |
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| Fetal anomalies v0.1 | ALG12 |
Rebecca Foulger gene: ALG12 was added gene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G |
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| Fetal anomalies v0.1 | ALG11 |
Rebecca Foulger gene: ALG11 was added gene: ALG11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to ALG11-CDG |
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| Fetal anomalies v0.1 | ALG1 |
Rebecca Foulger gene: ALG1 was added gene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to ALG1-CDG |
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| Fetal anomalies v0.1 | ALDOB |
Rebecca Foulger gene: ALDOB was added gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE |
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| Fetal anomalies v0.1 | ALDOA |
Rebecca Foulger gene: ALDOA was added gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII |
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| Fetal anomalies v0.1 | ALDH7A1 |
Rebecca Foulger gene: ALDH7A1 was added gene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY |
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| Fetal anomalies v0.1 | ALDH5A1 |
Rebecca Foulger gene: ALDH5A1 was added gene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.1 | ALDH4A1 |
Rebecca Foulger gene: ALDH4A1 was added gene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 |
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| Fetal anomalies v0.1 | ALDH3A2 |
Rebecca Foulger gene: ALDH3A2 was added gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME |
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| Fetal anomalies v0.1 | ALDH1A3 |
Rebecca Foulger gene: ALDH1A3 was added gene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA |
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| Fetal anomalies v0.1 | ALDH18A1 | Rebecca Foulger Added phenotypes CUTIS LAXA, AUTOSOMAL DOMINANT 3 for gene: ALDH18A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ALDH18A1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES for gene: ALDH18A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ALDH18A1 |
Rebecca Foulger gene: ALDH18A1 was added gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ALAD |
Rebecca Foulger gene: ALAD was added gene: ALAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA |
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| Fetal anomalies v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 |
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| Fetal anomalies v0.1 | AKT1 |
Rebecca Foulger gene: AKT1 was added gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | AKR1D1 |
Rebecca Foulger gene: AKR1D1 was added gene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 |
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| Fetal anomalies v0.1 | AK2 |
Rebecca Foulger gene: AK2 was added gene: AK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS |
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| Fetal anomalies v0.1 | AIRE |
Rebecca Foulger gene: AIRE was added gene: AIRE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 |
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| Fetal anomalies v0.1 | AIPL1 |
Rebecca Foulger gene: AIPL1 was added gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 |
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| Fetal anomalies v0.1 | AIMP1 |
Rebecca Foulger gene: AIMP1 was added gene: AIMP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 |
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| Fetal anomalies v0.1 | AIFM1 |
Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME |
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| Fetal anomalies v0.1 | AHI1 |
Rebecca Foulger gene: AHI1 was added gene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME |
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| Fetal anomalies v0.1 | AHDC1 |
Rebecca Foulger gene: AHDC1 was added gene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME |
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| Fetal anomalies v0.1 | AGXT |
Rebecca Foulger gene: AGXT was added gene: AGXT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 |
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| Fetal anomalies v0.1 | AGRN |
Rebecca Foulger gene: AGRN was added gene: AGRN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial 615120 |
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| Fetal anomalies v0.1 | AGPS |
Rebecca Foulger gene: AGPS was added gene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 |
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| Fetal anomalies v0.1 | AGPAT2 |
Rebecca Foulger gene: AGPAT2 was added gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594 |
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| Fetal anomalies v0.1 | AGL |
Rebecca Foulger gene: AGL was added gene: AGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III |
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| Fetal anomalies v0.1 | AGK |
Rebecca Foulger gene: AGK was added gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to SENGERS SYNDROME |
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| Fetal anomalies v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA |
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| Fetal anomalies v0.1 | AFF4 |
Rebecca Foulger gene: AFF4 was added gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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| Fetal anomalies v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease |
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| Fetal anomalies v0.1 | AFF2 |
Rebecca Foulger gene: AFF2 was added gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME |
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| Fetal anomalies v0.1 | ADSL |
Rebecca Foulger gene: ADSL was added gene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY |
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| Fetal anomalies v0.1 | ADNP |
Rebecca Foulger gene: ADNP was added gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 |
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| Fetal anomalies v0.1 | ADGRG6 |
Rebecca Foulger gene: ADGRG6 was added gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 |
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| Fetal anomalies v0.1 | ADGRG1 |
Rebecca Foulger gene: ADGRG1 was added gene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA |
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| Fetal anomalies v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 |
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| Fetal anomalies v0.1 | ADAMTSL2 |
Rebecca Foulger gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050 |
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| Fetal anomalies v0.1 | ADAMTS17 |
Rebecca Foulger gene: ADAMTS17 was added gene: ADAMTS17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome 613195 |
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| Fetal anomalies v0.1 | ADAMTS10 |
Rebecca Foulger gene: ADAMTS10 was added gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600 |
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| Fetal anomalies v0.1 | ADA |
Rebecca Foulger gene: ADA was added gene: ADA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY |
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| Fetal anomalies v0.1 | ACY1 |
Rebecca Foulger gene: ACY1 was added gene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY |
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| Fetal anomalies v0.1 | ACVRL1 |
Rebecca Foulger gene: ACVRL1 was added gene: ACVRL1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376 |
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| Fetal anomalies v0.1 | ACVR1 |
Rebecca Foulger gene: ACVR1 was added gene: ACVR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA |
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| Fetal anomalies v0.1 | ACTG2 |
Rebecca Foulger gene: ACTG2 was added gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG2 were set to Visceral myopathy 155310 |
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| Fetal anomalies v0.1 | ACTG1 |
Rebecca Foulger gene: ACTG1 was added gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ACTC1 |
Rebecca Foulger gene: ACTC1 was added gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 24461919 Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794 |
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| Fetal anomalies v0.1 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME |
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| Fetal anomalies v0.1 | ACTA2 |
Rebecca Foulger gene: ACTA2 was added gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ACTA1 |
Rebecca Foulger gene: ACTA1 was added gene: ACTA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3 |
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| Fetal anomalies v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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 |
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| Fetal anomalies v0.1 | ACP5 |
Rebecca Foulger gene: ACP5 was added gene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION |
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| Fetal anomalies v0.1 | ACOX1 |
Rebecca Foulger gene: ACOX1 was added gene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL |
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| Fetal anomalies v0.1 | ACO2 |
Rebecca Foulger gene: ACO2 was added gene: ACO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION |
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| Fetal anomalies v0.1 | ACE |
Rebecca Foulger gene: ACE was added gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430 |
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| Fetal anomalies v0.1 | ACAT1 |
Rebecca Foulger gene: ACAT1 was added gene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA |
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| Fetal anomalies v0.1 | ACAN |
Rebecca Foulger gene: ACAN was added gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ACADVL |
Rebecca Foulger gene: ACADVL was added gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.1 | ACADS |
Rebecca Foulger gene: ACADS was added gene: ACADS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.1 | ACADM |
Rebecca Foulger gene: ACADM was added gene: ACADM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.1 | ACAD9 |
Rebecca Foulger gene: ACAD9 was added gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY |
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| Fetal anomalies v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations |
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| Fetal anomalies v0.1 | ABHD5 |
Rebecca Foulger gene: ABHD5 was added gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME |
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| Fetal anomalies v0.1 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE |
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| Fetal anomalies v0.1 | ABCD1 |
Rebecca Foulger gene: ABCD1 was added gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ABCC9 |
Rebecca Foulger gene: ABCC9 was added gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ABCC8 |
Rebecca Foulger gene: ABCC8 was added gene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450 |
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| Fetal anomalies v0.1 | ABCC6 |
Rebecca Foulger gene: ABCC6 was added gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 |
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| Fetal anomalies v0.1 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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 |
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| Fetal anomalies v0.1 | ABCB11 |
Rebecca Foulger gene: ABCB11 was added gene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS |
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| Fetal anomalies v0.1 | ABCA12 |
Rebecca Foulger gene: ABCA12 was added gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500 |
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| Fetal anomalies v0.1 | AASS |
Rebecca Foulger gene: AASS was added gene: AASS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AASS were set to HYPERLYSINEMIA |
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| Fetal anomalies v0.1 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. |
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| Fetal anomalies v0.1 | AAAS |
Rebecca Foulger gene: AAAS was added gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
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| Fetal anomalies v0.0 |
Ellen McDonagh Added Panel Fetal anomalies Set panel types to: GMS Rare Disease Virtual |
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