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Fetal anomalies v0.9 PCNT Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCGF2 Rebecca Foulger commented on gene: PCGF2: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DUSBILITY
Fetal anomalies v0.9 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PCBD1 Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C2orf71 Rebecca Foulger commented on gene: C2orf71: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA 54
Fetal anomalies v0.9 PC Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX9 Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX8 Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX6 Rebecca Foulger commented on gene: PAX6: DDG2P rating in original PAGE list: Confirmed for KERATITIS HEREDITARY, Confirmed for COLOBOMA OF OPTIC NERVE, Confirmed for PETERS ANOMALY, Confirmed for FOVEAL HYPOPLASIA, Confirmed for BILATERAL OPTIC NERVE HYPOPLASIA, Confirmed for ANIRIDIA and Confirmed for ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY.
Fetal anomalies v0.9 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAX2 Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PARN Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAPSS2 Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAK3 Rebecca Foulger commented on gene: PAK3: DDG2P rating in original PAGE list: Confirmed for AGENESIS OF THE CORPUS CALLOSUM and Confirmed for MENTAL RETARDATION X-LINKED TYPE 30.
Fetal anomalies v0.9 PAH Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 PACS1 Rebecca Foulger commented on gene: PACS1: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 P4HB Rebecca Foulger commented on gene: P4HB: DDG2P rating in original PAGE list: Probable for COLE-CARPENTER SYNDROME
Fetal anomalies v0.9 P3H1 Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OXCT1 Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTX2 Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTULIN Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTUD6B Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTOGL Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OTC Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OSTM1 Rebecca Foulger reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OSGEP Rebecca Foulger commented on gene: OSGEP: DDG2P rating in original PAGE list: Probable for Nephrotic syndrome with primary microcephaly
Fetal anomalies v0.9 ORC6 Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ORC4 Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ORC1 Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OPHN1 Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OFD1 Rebecca Foulger commented on gene: OFD1: DDG2P rating in original PAGE list: Confirmed for ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, Confirmed for SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 and Confirmed for JOUBERT SYNDROME TYPE 10.
Fetal anomalies v0.9 C4orf26 Rebecca Foulger commented on gene: C4orf26: DDG2P rating in original PAGE list: Confirmed for AMYELOGENESIS
Fetal anomalies v0.9 OCRL Rebecca Foulger commented on gene: OCRL: DDG2P rating in original PAGE list: Confirmed for LOWE OCULOCEREBRORENAL SYNDROME and Confirmed for DENT DISEASE TYPE 2.
Fetal anomalies v0.9 OCLN Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 OBSL1 Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NYX Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUS1 Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUP62 Rebecca Foulger commented on gene: NUP62: DDG2P rating in original PAGE list: Probable for INFANTILE STRIATONIGRAL DEGENERATION
Fetal anomalies v0.9 NUP107 Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NTRK2 Rebecca Foulger commented on gene: NTRK2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NT5C3A Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NT5C2 Rebecca Foulger reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NSUN2 Rebecca Foulger commented on gene: NSUN2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Fetal anomalies v0.9 NSMF Rebecca Foulger commented on gene: NSMF: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 NSDHL Rebecca Foulger commented on gene: NSDHL: DDG2P rating in original PAGE list: Confirmed for CK SYNDROME and Confirmed for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS.
Fetal anomalies v0.9 NSD1 Rebecca Foulger commented on gene: NSD1: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME, Confirmed for BECKWITH-WIEDEMANN SYNDROME, and Confirmed for SOTOS SYNDROME.
Fetal anomalies v0.9 NRXN2 Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NRAS Rebecca Foulger commented on gene: NRAS: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 6
Fetal anomalies v0.9 NR2F2 Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NR2F1 Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NR0B1 Rebecca Foulger reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPR2 Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHS2 Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHS1 Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP4 Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP3 Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPHP1 Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPC2 Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NPC1 Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOVA2 Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOTCH2 Rebecca Foulger commented on gene: NOTCH2: DDG2P rating in original PAGE list: Confirmed for HAJDU-CHENEY SYNDROME
Fetal anomalies v0.9 NOTCH1 Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NONO Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NOG Rebecca Foulger commented on gene: NOG: DDG2P rating in original PAGE list: Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2.
Fetal anomalies v0.9 NODAL Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NMNAT1 Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX6-2 Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX3-2 Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NKX2-5 Rebecca Foulger commented on gene: NKX2-5: DDG2P rating in original PAGE list: Confirmed for ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, Confirmed for TETRALOGY OF FALLOT, and Confirmed for CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5.
Fetal anomalies v0.9 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NIPBL Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NHS Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NHP2 Rebecca Foulger commented on gene: NHP2: DDG2P rating in original PAGE list: Probable for DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.9 NHEJ1 Rebecca Foulger reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NFU1 Rebecca Foulger commented on gene: NFU1: DDG2P rating in original PAGE list: Confirmed for MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Fetal anomalies v0.9 NFIX Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NF1 Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEXMIF Rebecca Foulger commented on gene: NEXMIF: DDG2P rating in original PAGE list: Probable for KIAA2022, and Probable for Intellectual disability and epilepsy.
Fetal anomalies v0.9 NEU1 Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEK9 Rebecca Foulger reviewed gene: NEK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEK8 Rebecca Foulger commented on gene: NEK8: DDG2P rating in original PAGE list: Probable for NEPHRONOPHTHISIS 9 and Probable for RENAL-HEPATIC-PANCREATIC DYSPLASIA 2.
Fetal anomalies v0.9 NEK1 Rebecca Foulger commented on gene: NEK1: DDG2P rating in original PAGE list: Confirmed for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Fetal anomalies v0.9 NEDD4L Rebecca Foulger commented on gene: NEDD4L: DDG2P rating in original PAGE list: Probable for Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Fetal anomalies v0.9 NECTIN4 Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NEB Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFV1 Rebecca Foulger commented on gene: NDUFV1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.9 NDUFS8 Rebecca Foulger commented on gene: NDUFS8: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.9 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFS1 Rebecca Foulger commented on gene: NDUFS1: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY.
Fetal anomalies v0.9 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFAF2 Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDUFA10 Rebecca Foulger commented on gene: NDUFA10: DDG2P rating in original PAGE list: Probable for LEIGH SYNDROME DUP
Fetal anomalies v0.9 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDP Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NDE1 Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NBN Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NBAS Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAXE Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NANS Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NALCN Rebecca Foulger commented on gene: NALCN: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, Confirmed for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, and Confirmed for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY.
Fetal anomalies v0.9 NAGS Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAGA Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NACC1 Rebecca Foulger commented on gene: NACC1: DDG2P rating in original PAGE list: Confirmed for Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.9 NAA15 Rebecca Foulger reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 NAA10 Rebecca Foulger commented on gene: NAA10: DDG2P rating in original PAGE list: Confirmed for NONPECIFIC SEVERE ID, OGDEN SYNDROME, Confirmed for X-linked anophthalmia syndrome, and Confirmed for X-linked anophthalmia syndrome/Lenz.
Fetal anomalies v0.9 MYT1L Rebecca Foulger reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYT1 Rebecca Foulger commented on gene: MYT1: DDG2P rating in original PAGE list: Probable.
Fetal anomalies v0.9 MYO5B Rebecca Foulger reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYLK Rebecca Foulger reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYH9 Rebecca Foulger commented on gene: MYH9: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 17, Confirmed for SEBASTIAN SYNDROME, Confirmed for MAY-HEGGLIN ANOMALY, Confirmed for EPSTEIN SYNDROME, Confirmed for FECHTNER SYNDROME, and Confirmed for MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS.
Fetal anomalies v0.9 MYH3 Rebecca Foulger commented on gene: MYH3: DDG2P rating in original PAGE list: Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B and Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A.
Fetal anomalies v0.9 MYCN Rebecca Foulger reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MYBPC1 Rebecca Foulger reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MUT Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MUSK Rebecca Foulger reviewed gene: MUSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MT-TP Rebecca Foulger reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTRR Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTR Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTOR Rebecca Foulger commented on gene: MTOR: DDG2P rating in original PAGE list: Confirmed for Smith-Kingsmore syndrome
Fetal anomalies v0.9 MTO1 Rebecca Foulger reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTM1 Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MTHFR Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSX2 Rebecca Foulger commented on gene: MSX2: DDG2P rating in original PAGE list: Confirmed for ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM and Confirmed for CRANIOSYNOSTOSIS, TYPE 2.
Fetal anomalies v0.9 MSX1 Rebecca Foulger reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSL3 Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSH6 Rebecca Foulger reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MSH2 Rebecca Foulger reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MRPS34 Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MRPS22 Rebecca Foulger commented on gene: MRPS22: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Fetal anomalies v0.9 MRE11 Rebecca Foulger reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPZ Rebecca Foulger reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPLKIP Rebecca Foulger reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPI Rebecca Foulger reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MPDU1 Rebecca Foulger reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MOGS Rebecca Foulger commented on gene: MOGS: DDG2P rating in original PAGE list: Probable for CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.9 MOCS2 Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MOCS1 Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MNX1 Rebecca Foulger reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMP21 Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMP13 Rebecca Foulger commented on gene: MMP13: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE and Confirmed for METAPHYSEAL ANADYSPLASIA TYPE 1.
Fetal anomalies v0.9 MMADHC Rebecca Foulger reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMACHC Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMAB Rebecca Foulger reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MMAA Rebecca Foulger reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLYCD Rebecca Foulger reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLH1 Rebecca Foulger reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MLC1 Rebecca Foulger reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MKS1 Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MKKS Rebecca Foulger reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MIR17HG Rebecca Foulger reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MID1 Rebecca Foulger reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MICU1 Rebecca Foulger reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MGP Rebecca Foulger reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MGAT2 Rebecca Foulger reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MFSD8 Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MFSD2A Rebecca Foulger commented on gene: MFSD2A: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.9 MFRP Rebecca Foulger reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MESP2 Rebecca Foulger reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEOX1 Rebecca Foulger reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEGF8 Rebecca Foulger reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEGF10 Rebecca Foulger reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MEF2C Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MED17 Rebecca Foulger commented on gene: MED17: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Fetal anomalies v0.9 MED13L Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MED12 Rebecca Foulger commented on gene: MED12: DDG2P rating in original PAGE list: Confirmed for OPITZ-KAVEGGIA SYNDROME and Confirmed for LUJAN-FRYNS SYNDROME,
Fetal anomalies v0.9 MECR Rebecca Foulger reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MECP2 Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS.
Fetal anomalies v0.9 MECOM Rebecca Foulger commented on gene: MECOM: DDG2P rating in original PAGE list: Probable for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Fetal anomalies v0.9 MDH2 Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCPH1 Rebecca Foulger reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCOLN1 Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCEE Rebecca Foulger reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCCC2 Rebecca Foulger reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MCCC1 Rebecca Foulger reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MC2R Rebecca Foulger reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MBTPS2 Rebecca Foulger reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MBOAT7 Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MATN3 Rebecca Foulger commented on gene: MATN3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Fetal anomalies v0.9 MAT1A Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MASP1 Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAPRE2 Rebecca Foulger commented on gene: MAPRE2: DDG2P rating in original PAGE list: Confirmed for Circumferential Skin Creases Kunze Type
Fetal anomalies v0.9 MAP3K7 Rebecca Foulger commented on gene: MAP3K7: DDG2P rating in original PAGE list: Probable for Cardiospondylocarpofacial syndrome and Probable for FRONTOMETAPHYSEAL DYSPLASIA.
Fetal anomalies v0.9 MAP3K1 Rebecca Foulger reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAP2K2 Rebecca Foulger commented on gene: MAP2K2: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.9 MAP2K1 Rebecca Foulger commented on gene: MAP2K1: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.9 MAOA Rebecca Foulger commented on gene: MAOA: DDG2P rating in original PAGE list: Probable for BRUNNER SYNDROME
Fetal anomalies v0.9 MANBA Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAN2B1 Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.9 MAMLD1 Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 MAF Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4.
Fetal anomalies v0.9 MAB21L2 Rebecca Foulger commented on gene: MAB21L2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA, SYNDROMIC 14
Fetal anomalies v0.9 LZTFL1 Rebecca Foulger reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LYST Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP4 Rebecca Foulger reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP3 Rebecca Foulger reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LTBP2 Rebecca Foulger reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRRC6 Rebecca Foulger reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRPPRC Rebecca Foulger reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRP5 Rebecca Foulger commented on gene: LRP5: DDG2P rating in original PAGE list: Confirmed for HIGH BONE MASS TRAIT, Confirmed for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, Confirmed for ENDOSTEAL HYPEROSTOSIS WORTH TYPE, Confirmed for VITREORETINOPATHY EXUDATIVE TYPE 4 and Confirmed for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.
Fetal anomalies v0.9 LRP4 Rebecca Foulger reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRP2 Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRIT3 Rebecca Foulger reviewed gene: LRIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRIG2 Rebecca Foulger reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRBA Rebecca Foulger reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LRAT Rebecca Foulger reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LONP1 Rebecca Foulger commented on gene: LONP1: DDG2P rating in original PAGE list: Probable for CODAS SYNDROME
Fetal anomalies v0.9 LMX1B Rebecca Foulger reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMOD3 Rebecca Foulger reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMBRD1 Rebecca Foulger reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LMBR1 Rebecca Foulger reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIPT2 Rebecca Foulger commented on gene: LIPT2: DDG2P rating in original PAGE list: Probable for Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.9 LIPT1 Rebecca Foulger commented on gene: LIPT1: DDG2P rating in original PAGE list: Probable for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.9 LIPN Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LINS1 Rebecca Foulger reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIG4 Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIFR Rebecca Foulger reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LIAS Rebecca Foulger commented on gene: LIAS: DDG2P rating in original PAGE list: Probable for Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.9 LHX4 Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LHX3 Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LGI4 Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LFNG Rebecca Foulger commented on gene: LFNG: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Fetal anomalies v0.9 LEMD3 Rebecca Foulger reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LBR Rebecca Foulger reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LARS2 Rebecca Foulger commented on gene: LARS2: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME
Fetal anomalies v0.9 LARP7 Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMP2 Rebecca Foulger reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMC3 Rebecca Foulger reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMC2 Rebecca Foulger reviewed gene: LAMC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMB3 Rebecca Foulger reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMB1 Rebecca Foulger reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA3 Rebecca Foulger reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA2 Rebecca Foulger reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 LAMA1 Rebecca Foulger reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 L2HGDH Rebecca Foulger reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 L1CAM Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KYNU Rebecca Foulger reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KRT74 Rebecca Foulger commented on gene: KRT74: DDG2P rating in original PAGE list: Probable for HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Fetal anomalies v0.9 KRAS Rebecca Foulger commented on gene: KRAS: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME and Confirmed for NOONAN SYNDROME TYPE 3.
Fetal anomalies v0.9 KPTN Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT5B Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2D Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2B Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KMT2A Rebecca Foulger reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLHL7 Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Fetal anomalies v0.9 KLHL41 Rebecca Foulger reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLHL40 Rebecca Foulger reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KLF1 Rebecca Foulger commented on gene: KLF1: DDG2P rating in original PAGE list: Confirmed for ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
Fetal anomalies v0.9 KISS1R Rebecca Foulger reviewed gene: KISS1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIF7 Rebecca Foulger commented on gene: KIF7: DDG2P rating in original PAGE list: Confirmed for ACROCALLOSAL SYNDROME and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION.
Fetal anomalies v0.9 KIF5C Rebecca Foulger commented on gene: KIF5C: DDG2P rating in original PAGE list: Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Fetal anomalies v0.9 KIF2A Rebecca Foulger commented on gene: KIF2A: DDG2P rating in original PAGE list: Probable for MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Fetal anomalies v0.9 KIF22 Rebecca Foulger commented on gene: KIF22: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.9 KIF1BP Rebecca Foulger reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIF1A Rebecca Foulger commented on gene: KIF1A: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, and Confirmed for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC.
Fetal anomalies v0.9 KIF11 Rebecca Foulger reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIDINS220 Rebecca Foulger reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KIAA1109 Rebecca Foulger commented on gene: KIAA1109: DDG2P rating in original PAGE list: Probable for Brain atrophy, Dandy Walker and Contractures
Fetal anomalies v0.9 KIAA0586 Rebecca Foulger reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM6A Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM5C Rebecca Foulger reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KDM1A Rebecca Foulger commented on gene: KDM1A: DDG2P rating in original PAGE list: Probable for Developmental delay and distinctive facial features
Fetal anomalies v0.9 KCTD7 Rebecca Foulger commented on gene: KCTD7: DDG2P rating in original PAGE list: Confirmed for NEURONAL CEROID LIPOFUSCINOSIS and Confirmed for PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3.
Fetal anomalies v0.9 KCTD1 Rebecca Foulger commented on gene: KCTD1: DDG2P rating in original PAGE list: Confirmed for SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.9 KCNT1 Rebecca Foulger commented on gene: KCNT1: DDG2P rating in original PAGE list: Confirmed for MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY and Confirmed for SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY.
Fetal anomalies v0.9 KCNQ5 Rebecca Foulger commented on gene: KCNQ5: DDG2P rating in original PAGE list: Probable for Intellectual Disability with or without Epileptic Encephalopathy
Fetal anomalies v0.9 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: DDG2P rating in original PAGE list: Confirmed for KCNQ3 syndrome
Fetal anomalies v0.9 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNQ1 Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ6 Rebecca Foulger commented on gene: KCNJ6: DDG2P rating in original PAGE list: Probable for KEPPEN-LUBINSKY SYNDROME
Fetal anomalies v0.9 KCNJ2 Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ11 Rebecca Foulger commented on gene: KCNJ11: DDG2P rating in original PAGE list: Confirmed for FAMILIAL HYPERINSULINISM, DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, and Confirmed for DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL.
Fetal anomalies v0.9 KCNJ10 Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNJ1 Rebecca Foulger reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KCNH1 Rebecca Foulger commented on gene: KCNH1: DDG2P rating in original PAGE list: Probable for TEMPLE BARRAISTER SYNDROME
Fetal anomalies v0.9 KCNC3 Rebecca Foulger commented on gene: KCNC3: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA TYPE 13
Fetal anomalies v0.9 KCNC1 Rebecca Foulger commented on gene: KCNC1: DDG2P rating in original PAGE list: Confirmed for EPILEPSY, PROGRESSIVE MYOCLONIC 7
Fetal anomalies v0.9 KCNB1 Rebecca Foulger commented on gene: KCNB1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Fetal anomalies v0.9 KCNA2 Rebecca Foulger commented on gene: KCNA2: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 KBTBD13 Rebecca Foulger commented on gene: KBTBD13: DDG2P rating in original PAGE list: Confirmed for NEMALINE MYOPATHY 6
Fetal anomalies v0.9 KAT6B Rebecca Foulger commented on gene: KAT6B: DDG2P rating in original PAGE list: Confirmed for BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE and Confirmed for GENITOPATELLAR SYNDROME.
Fetal anomalies v0.9 KAT6A Rebecca Foulger reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 KANSL1 Rebecca Foulger reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAM3 Rebecca Foulger reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAK3 Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAGN1 Rebecca Foulger reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 JAG1 Rebecca Foulger reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IVD Rebecca Foulger reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGB4 Rebecca Foulger reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA8 Rebecca Foulger reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA7 Rebecca Foulger reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA6 Rebecca Foulger reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITGA3 Rebecca Foulger reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ITCH Rebecca Foulger reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ISPD Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IRX5 Rebecca Foulger commented on gene: IRX5: DDG2P rating in original PAGE list: Probable for HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Fetal anomalies v0.9 IRF6 Rebecca Foulger commented on gene: IRF6: DDG2P rating in original PAGE list: Confirmed for VAN DER WOUDE SYNDROME and Confirmed for POPLITEAL PTERYGIUM SYNDROME.
Fetal anomalies v0.9 IQSEC2 Rebecca Foulger commented on gene: IQSEC2: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED TYPE 1
Fetal anomalies v0.9 IQCB1 Rebecca Foulger reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INVS Rebecca Foulger reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INSR Rebecca Foulger reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INPPL1 Rebecca Foulger reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 INPP5K Rebecca Foulger commented on gene: INPP5K: DDG2P rating in original PAGE list: Probable for Muscular dystrophy, congenital, with cataracts and intellectual disability
Fetal anomalies v0.9 INPP5E Rebecca Foulger commented on gene: INPP5E: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS and Confirmed for JOUBERT SYNDROME TYPE 1.
Fetal anomalies v0.9 IMPAD1 Rebecca Foulger reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IL1RAPL1 Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IL17RD Rebecca Foulger commented on gene: IL17RD: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 IKBKG Rebecca Foulger commented on gene: IKBKG: DDG2P rating in original PAGE list: Confirmed for IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA, Confirmed for INCONTINENTIA PIGMENTI, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA, Confirmed for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED and Confirmed for SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1.
Fetal anomalies v0.9 IHH Rebecca Foulger commented on gene: IHH: DDG2P rating in original PAGE list: Confirmed for BRACHYDACTYLY, TYPE A1 and Confirmed for ACROCAPITOFEMORAL DYSPLASIA.
Fetal anomalies v0.9 IGSF1 Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGHMBP2 Rebecca Foulger reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGFBP7 Rebecca Foulger reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGF2 Rebecca Foulger commented on gene: IGF2: DDG2P rating in original PAGE list: Confirmed for CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME and Confirmed for BECKWITH-WIEDEMANN SYNDROME.
Fetal anomalies v0.9 IGF1R Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IGF1 Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT80 Rebecca Foulger commented on gene: IFT80: DDG2P rating in original PAGE list: Confirmed for ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.9 IFT43 Rebecca Foulger commented on gene: IFT43: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.9 IFT172 Rebecca Foulger reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT140 Rebecca Foulger reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IFT122 Rebecca Foulger commented on gene: IFT122: DDG2P rating in original PAGE list: Confirmed for CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.9 IFITM5 Rebecca Foulger commented on gene: IFITM5: DDG2P rating in original PAGE list: Confirmed for OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.9 IER3IP1 Rebecca Foulger reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IDUA Rebecca Foulger reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IDS Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 IARS Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HYLS1 Rebecca Foulger commented on gene: HYLS1: DDG2P rating in original PAGE list: Confirmed for HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.9 HYDIN Rebecca Foulger reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HYAL1 Rebecca Foulger reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HUWE1 Rebecca Foulger commented on gene: HUWE1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.9 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSF4 Rebecca Foulger commented on gene: HSF4: DDG2P rating in original PAGE list: Confirmed for CATARACT MARNER TYPE and Confirmed for CATARACT ZONULAR HSF4-RELATED.
Fetal anomalies v0.9 HSD3B7 Rebecca Foulger reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B4 Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B3 Rebecca Foulger reviewed gene: HSD17B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HSD17B10 Rebecca Foulger commented on gene: HSD17B10: DDG2P rating in original PAGE list: Confirmed for 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY and Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10.
Fetal anomalies v0.9 HRAS Rebecca Foulger commented on gene: HRAS: DDG2P rating in original PAGE list: Confirmed for COSTELLO SYNDROME and Confirmed for CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES.
Fetal anomalies v0.9 HR Rebecca Foulger commented on gene: HR: DDG2P rating in original PAGE list: Confirmed for ALOPECIA UNIVERSALIS and Confirmed for ATRICHIA WITH PAPULAR LESIONS.
Fetal anomalies v0.9 HPSE2 Rebecca Foulger reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPS1 Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPRT1 Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPGD Rebecca Foulger reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HPD Rebecca Foulger commented on gene: HPD: DDG2P rating in original PAGE list: Probable for HAWKINSINURIA and Probable for TYROSINEMIA TYPE 3.
Fetal anomalies v0.9 HOXD13 Rebecca Foulger commented on gene: HOXD13: DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, Confirmed for SYNPOLYDACTYLY 1, Confirmed for SYNDACTYLY TYPE 5, Confirmed for BRACHYDACTYLY TYPE E, Confirmed for BRACHYDACTYLY-SYNDACTYLY SYNDROME, and Confirmed for BRACHYDACTYLY TYPE D.
Fetal anomalies v0.9 HOXC13 Rebecca Foulger reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HOXB1 Rebecca Foulger commented on gene: HOXB1: DDG2P rating in original PAGE list: Probable for FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Fetal anomalies v0.9 HOXA13 Rebecca Foulger reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HOXA1 Rebecca Foulger reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HNRNPU Rebecca Foulger reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HNRNPH2 Rebecca Foulger commented on gene: HNRNPH2: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder in Females
Fetal anomalies v0.9 HNF4A Rebecca Foulger commented on gene: HNF4A: DDG2P rating in original PAGE list: Confirmed for HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 and Confirmed for ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY.
Fetal anomalies v0.9 HNF1B Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HMX1 Rebecca Foulger reviewed gene: HMX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HMGCS2 Rebecca Foulger commented on gene: HMGCS2: DDG2P rating in original PAGE list: Confirmed for 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Fetal anomalies v0.9 HMGCL Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HLCS Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIVEP2 Rebecca Foulger reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIST1H4C Rebecca Foulger commented on gene: HIST1H4C: DDG2P rating in original PAGE list: Probable for HIST1H4C
Fetal anomalies v0.9 HIST1H1E Rebecca Foulger reviewed gene: HIST1H1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HINT1 Rebecca Foulger reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HIBCH Rebecca Foulger reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HGSNAT Rebecca Foulger reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HEXB Rebecca Foulger reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HEXA Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HESX1 Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HES7 Rebecca Foulger reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HECW2 Rebecca Foulger commented on gene: HECW2: DDG2P rating in original PAGE list: Confirmed for HECW2
Fetal anomalies v0.9 HDAC8 Rebecca Foulger commented on gene: HDAC8: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME and Confirmed for WILSON-TURNER SYNDROME.
Fetal anomalies v0.9 HDAC4 Rebecca Foulger reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HCN1 Rebecca Foulger commented on gene: HCN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Fetal anomalies v0.9 HCFC1 Rebecca Foulger commented on gene: HCFC1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, X-LINKED 3 and Confirmed for COBALAMIN DISORDER.
Fetal anomalies v0.9 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HAX1 Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HADHA Rebecca Foulger reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HADH Rebecca Foulger reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HACE1 Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 HAAO Rebecca Foulger reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 H3F3A Rebecca Foulger commented on gene: H3F3A: DDG2P rating in original PAGE list: Probable for Craniofacial with neurodevelopment disorders
Fetal anomalies v0.9 H19 Rebecca Foulger commented on gene: H19: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 GZF1 Rebecca Foulger reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GUSB Rebecca Foulger reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GUCY2C Rebecca Foulger commented on gene: GUCY2C: DDG2P rating in original PAGE list: Confirmed for MECONIUM ILEUS and Confirmed for FAMILIAL DIARRHEA DIARRHEA 6.
Fetal anomalies v0.9 GTPBP3 Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GTF2H5 Rebecca Foulger reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GTF2E2 Rebecca Foulger commented on gene: GTF2E2: DDG2P rating in original PAGE list: Probable for DNA Repair-Proficient Trichothiodystrophy
Fetal anomalies v0.9 GSPT2 Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRM6 Rebecca Foulger reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRM1 Rebecca Foulger reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIP1 Rebecca Foulger reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIN2D Rebecca Foulger commented on gene: GRIN2D: DDG2P rating in original PAGE list: Probable for Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Fetal anomalies v0.9 GRIN2B Rebecca Foulger commented on gene: GRIN2B: DDG2P rating in original PAGE list: Confirmed for AUTISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and Confirmed for EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.9 GRIN2A Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIN1 Rebecca Foulger commented on gene: GRIN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 GRIK2 Rebecca Foulger reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRIA3 Rebecca Foulger reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRHL3 Rebecca Foulger reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GRHL2 Rebecca Foulger commented on gene: GRHL2: DDG2P rating in original PAGE list: Probable for ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Fetal anomalies v0.9 GPX4 Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPSM2 Rebecca Foulger reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPKOW Rebecca Foulger reviewed gene: GPKOW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPI Rebecca Foulger commented on gene: GPI: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 GPC6 Rebecca Foulger reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPC3 Rebecca Foulger reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GPAA1 Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GORAB Rebecca Foulger reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNS Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPTG Rebecca Foulger reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPTAB Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNPAT Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNB5 Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNB1 Rebecca Foulger commented on gene: GNB1: DDG2P rating in original PAGE list: Confirmed for Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Fetal anomalies v0.9 GNAS Rebecca Foulger commented on gene: GNAS: DDG2P rating in original PAGE list: Confirmed for PSEUDOHYPOPARATHYROIDISM TYPE 1B, Confirmed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, Confirmed for ALBRIGHT HEREDITARY OSTEODYSTROPHY and Confirmed for GNAS HYPERFUNCTION.
Fetal anomalies v0.9 GNAQ Rebecca Foulger commented on gene: GNAQ: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma
Fetal anomalies v0.9 GNAO1 Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNAI3 Rebecca Foulger commented on gene: GNAI3: DDG2P rating in original PAGE list: Confirmed for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.9 GNAI1 Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GNA14 Rebecca Foulger commented on gene: GNA14: DDG2P rating in original PAGE list: Probable for Congenital vascular tumours
Fetal anomalies v0.9 GNA11 Rebecca Foulger commented on gene: GNA11: DDG2P rating in original PAGE list: Probable for Congenital Hemangioma
Fetal anomalies v0.9 GMPPB Rebecca Foulger commented on gene: GMPPB: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.9 GMPPA Rebecca Foulger reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GMNN Rebecca Foulger commented on gene: GMNN: DDG2P rating in original PAGE list: Probable for Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Fetal anomalies v0.9 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLUL Rebecca Foulger commented on gene: GLUL: DDG2P rating in original PAGE list: Confirmed for CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.9 GLUD1 Rebecca Foulger commented on gene: GLUD1: DDG2P rating in original PAGE list: Confirmed for HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Fetal anomalies v0.9 GLMN Rebecca Foulger reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLIS3 Rebecca Foulger reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLIS2 Rebecca Foulger reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLI3 Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLI2 Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLE1 Rebecca Foulger commented on gene: GLE1: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.9 GLDN Rebecca Foulger reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLDC Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GLB1 Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GK Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GJC2 Rebecca Foulger commented on gene: GJC2: DDG2P rating in original PAGE list: Confirmed for LYMPHEDEMA, HEREDITARY, IC, Confirmed for SPASTIC PARAPLEGIA, 44 and Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 2.
Fetal anomalies v0.9 GJB2 Rebecca Foulger commented on gene: GJB2: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A, Confirmed for PALMOPLANTAR KERATODERMA WITH DEAFNESS, Confirmed for ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME, Confirmed for VOHWINKEL SYNDROME and Confirmed for BART-PUMPHREY SYNDROME.
Fetal anomalies v0.9 GJA8 Rebecca Foulger commented on gene: GJA8: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT TYPE 1 and Confirmed for CATARACT-MICROCORNEA SYNDROME.
Fetal anomalies v0.9 GJA3 Rebecca Foulger commented on gene: GJA3: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.9 GJA1 Rebecca Foulger commented on gene: GJA1: DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA.
Fetal anomalies v0.9 GHR Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GFM1 Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GFAP Rebecca Foulger commented on gene: GFAP: DDG2P rating in original PAGE list: Confirmed for ALEXANDER DISEASE
Fetal anomalies v0.9 GDI1 Rebecca Foulger reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GDF6 Rebecca Foulger commented on gene: GDF6: DDG2P rating in original PAGE list: Confirmed for KLIPPEL-FEIL SYNDROME TYPE 1 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 4.
Fetal anomalies v0.9 GDF5 Rebecca Foulger commented on gene: GDF5: DDG2P rating in original PAGE list: Confirmed for ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, Confirmed for BRACHYDACTYLY TYPE C, Confirmed for DU PAN SYNDROME, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 2, Confirmed for BRACHYDACTYLY TYPE A1, Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE and Confirmed for BRACHYDACTYLY TYPE A2.
Fetal anomalies v0.9 GCH1 Rebecca Foulger commented on gene: GCH1: DDG2P rating in original PAGE list: Confirmed for GTP CYCLOHYDROLASE 1 DEFICIENCY and Confirmed for DYSTONIA TYPE 5.
Fetal anomalies v0.9 GCDH Rebecca Foulger commented on gene: GCDH: DDG2P rating in original PAGE list: Confirmed for GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.9 GBE1 Rebecca Foulger reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GBA2 Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATM Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATAD2B Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATA6 Rebecca Foulger commented on gene: GATA6: DDG2P rating in original PAGE list: Confirmed for ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIAL SEPTAL DEFECT 9, and Confirmed for PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS.
Fetal anomalies v0.9 GATA4 Rebecca Foulger reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GATA2 Rebecca Foulger reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GAS8 Rebecca Foulger reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GAMT Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALT Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALNS Rebecca Foulger reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALK1 Rebecca Foulger reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALE Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GALC Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GABRG2 Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 GABRB3 Rebecca Foulger commented on gene: GABRB3: DDG2P rating in original PAGE list: Confirmed for CHILDHOOD ABSENCE EPILEPSY TYPE 5 and Confirmed for EPILEPTIC ENCEPHALOPATHIES.
Fetal anomalies v0.9 GABRB2 Rebecca Foulger commented on gene: GABRB2: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 GABRA1 Rebecca Foulger commented on gene: GABRA1: DDG2P rating in original PAGE list: Probable for JUVENILE MYOCLONIC EPILEPSY and Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 GAA Rebecca Foulger reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 G6PC3 Rebecca Foulger reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FZD6 Rebecca Foulger reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FZD5 Rebecca Foulger commented on gene: FZD5: DDG2P rating in original PAGE list: Probable for Autosomal Dominant Coloboma
Fetal anomalies v0.9 FYCO1 Rebecca Foulger reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FUZ Rebecca Foulger commented on gene: FUZ: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FUCA1 Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTSJ1 Rebecca Foulger reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTL Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FTCD Rebecca Foulger reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRRS1L Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRMPD4 Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRMD7 Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FREM2 Rebecca Foulger reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FREM1 Rebecca Foulger reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FRAS1 Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXRED1 Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP3 Rebecca Foulger reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP2 Rebecca Foulger reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXP1 Rebecca Foulger reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXN1 Rebecca Foulger reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXL2 Rebecca Foulger reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXG1 Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXF1 Rebecca Foulger reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXE3 Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXE1 Rebecca Foulger commented on gene: FOXE1: DDG2P rating in original PAGE list: Confirmed for BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.9 FOXC2 Rebecca Foulger reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOXC1 Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FOLR1 Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FN1 Rebecca Foulger commented on gene: FN1: DDG2P rating in original PAGE list: Probable for Spondylometaphyseal Dysplasia with Corner Fractures
Fetal anomalies v0.9 FMN2 Rebecca Foulger reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FLVCR2 Rebecca Foulger reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FLVCR1 Rebecca Foulger commented on gene: FLVCR1: DDG2P rating in original PAGE list: Confirmed for ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Fetal anomalies v0.9 FLT4 Rebecca Foulger commented on gene: FLT4: DDG2P rating in original PAGE list: Confirmed for MILROY DISEASE
Fetal anomalies v0.9 FLRT3 Rebecca Foulger commented on gene: FLRT3: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FLNB Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1.
Fetal anomalies v0.9 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1.
Fetal anomalies v0.9 FLAD1 Rebecca Foulger reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKTN Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKRP Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FKBP14 Rebecca Foulger reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FIG4 Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FHL1 Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FH Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGFR3 Rebecca Foulger commented on gene: FGFR3: DDG2P rating in original PAGE list: Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for MUENKE SYNDROME, Confirmed for CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, Confirmed for ACHONDROPLASIA, Confirmed for THANATOPHORIC DYSPLASIA TYPE 2, Confirmed for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, Confirmed for HYPOCHONDROPLASIA, and Confirmed for THANATOPHORIC DYSPLASIA TYPE 1.
Fetal anomalies v0.9 FGFR2 Rebecca Foulger commented on gene: FGFR2: DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V.
Fetal anomalies v0.9 FGFR1 Rebecca Foulger commented on gene: FGFR1: DDG2P rating in original PAGE list: Confirmed for OSTEOGLOPHONIC DYSPLASIA, Confirmed for KALLMANN SYNDROME TYPE 2, Confirmed for PFEIFFER SYNDROME, Confirmed for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, Confirmed for Encephalocraniocutaneous lipomatosis, and Confirmed for Hartsfield syndrome.
Fetal anomalies v0.9 FGF9 Rebecca Foulger reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGF8 Rebecca Foulger commented on gene: FGF8: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 FGF3 Rebecca Foulger reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGF17 Rebecca Foulger commented on gene: FGF17: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 FGF12 Rebecca Foulger commented on gene: FGF12: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 FGF10 Rebecca Foulger reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGD4 Rebecca Foulger reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FGD1 Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FEZF1 Rebecca Foulger reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBXL4 Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBP1 Rebecca Foulger reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FBN2 Rebecca Foulger commented on gene: FBN2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURAL ARACHNODACTYLY
Fetal anomalies v0.9 FBN1 Rebecca Foulger commented on gene: FBN1: DDG2P rating in original PAGE list: Confirmed for biallelic and monoallelic MARFAN SYNDROME, Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and Confirmed for MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
Fetal anomalies v0.9 FBLN5 Rebecca Foulger commented on gene: FBLN5: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 FAT4 Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAR1 Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCM Rebecca Foulger reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCL Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCI Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCG Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCF Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCE Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCD2 Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCC Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCB Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FANCA Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM20C Rebecca Foulger reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM20A Rebecca Foulger reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM126A Rebecca Foulger reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM111A Rebecca Foulger commented on gene: FAM111A: DDG2P rating in original PAGE list: Confirmed for KENNY-CAFFEY SYNDROME
Fetal anomalies v0.9 FAH Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EZH2 Rebecca Foulger commented on gene: EZH2: DDG2P rating in original PAGE list: Confirmed for WEAVER SYNDROME 2
Fetal anomalies v0.9 EYA1 Rebecca Foulger reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXT2 Rebecca Foulger reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXPH5 Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: DDG2P rating in original PAGE list: Confirmed for PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.9 EVC2 Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EVC Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETHE1 Rebecca Foulger reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFDH Rebecca Foulger reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFB Rebecca Foulger reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ETFA Rebecca Foulger reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ESCO2 Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERF Rebecca Foulger commented on gene: ERF: DDG2P rating in original PAGE list: Confirmed for COMPLEX CRANIOSYNOSTOSIS and Confirmed for Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia.
Fetal anomalies v0.9 ERCC8 Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC6L2 Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC6 Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC5 Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC3 Rebecca Foulger reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC2 Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ERCC1 Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EPHX1 Rebecca Foulger commented on gene: EPHX1: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 EPHB4 Rebecca Foulger reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EPG5 Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EP300 Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EOGT Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EMD Rebecca Foulger reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EMC1 Rebecca Foulger commented on gene: EMC1: DDG2P rating in original PAGE list: Probable for monoallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy and Probable for biallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Fetal anomalies v0.9 ELOVL4 Rebecca Foulger reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELN Rebecca Foulger reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELMO2 Rebecca Foulger reviewed gene: ELMO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ELAC2 Rebecca Foulger reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF4A3 Rebecca Foulger commented on gene: EIF4A3: DDG2P rating in original PAGE list: Confirmed for RICHIERI-COSTA-PEREIRA SYNDROME
Fetal anomalies v0.9 EIF2S3 Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF2B3 Rebecca Foulger reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EIF2AK3 Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EHMT1 Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EGR2 Rebecca Foulger reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EFTUD2 Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EFNB1 Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EEF1A2 Rebecca Foulger commented on gene: EEF1A2: DDG2P rating in original PAGE list: Probable for INFANTILE EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 EED Rebecca Foulger commented on gene: EED: DDG2P rating in original PAGE list: Probable for Weaver-like overgrowth syndrome
Fetal anomalies v0.9 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EDNRA Rebecca Foulger commented on gene: EDNRA: DDG2P rating in original PAGE list: Confirmed for MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Fetal anomalies v0.9 EDN1 Rebecca Foulger commented on gene: EDN1: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.9 EDAR Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Fetal anomalies v0.9 EDA Rebecca Foulger commented on gene: EDA: DDG2P rating in original PAGE list: Confirmed for ECTODERMAL DYSPLASIA TYPE 1 and Confirmed for TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1.
Fetal anomalies v0.9 ECEL1 Rebecca Foulger reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EBP Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 EBF3 Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYRK1A Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYNC2H1 Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DYNC1H1 Rebecca Foulger commented on gene: DYNC1H1: DDG2P rating in original PAGE list: Confirmed for SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD and Confirmed for SEVERE ID WITH NEURONAL MIGRATION DISORDER.
Fetal anomalies v0.9 DYM Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DVL3 Rebecca Foulger commented on gene: DVL3: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.9 DVL1 Rebecca Foulger commented on gene: DVL1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.9 DUSP6 Rebecca Foulger commented on gene: DUSP6: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 DSTYK Rebecca Foulger reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DSPP Rebecca Foulger commented on gene: DSPP: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, and Confirmed for DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II.
Fetal anomalies v0.9 DSP Rebecca Foulger commented on gene: DSP: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 DSG1 Rebecca Foulger reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DRC1 Rebecca Foulger reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPM3 Rebecca Foulger reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPM1 Rebecca Foulger reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DPF2 Rebecca Foulger commented on gene: DPF2: DDG2P rating in original PAGE list: Probable for Coffin Siris like disorder
Fetal anomalies v0.9 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: DDG2P rating in original PAGE list: Confirmed for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 and Confirmed for DPAGT1-CDG.
Fetal anomalies v0.9 DOLK Rebecca Foulger commented on gene: DOLK: DDG2P rating in original PAGE list: Confirmed for CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.9 DOCK8 Rebecca Foulger reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DOCK7 Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DOCK6 Rebecca Foulger reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNMT3B Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNMT3A Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNM1 Rebecca Foulger commented on gene: DNM1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 DNAJC19 Rebecca Foulger reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAJC12 Rebecca Foulger reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAI1 Rebecca Foulger reviewed gene: DNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAH11 Rebecca Foulger reviewed gene: DNAH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF5 Rebecca Foulger commented on gene: DNAAF5: DDG2P rating in original PAGE list: Probable for CILIARY DYSKINESIA, PRIMARY, 18
Fetal anomalies v0.9 DNAAF4 Rebecca Foulger reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF3 Rebecca Foulger reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DNAAF1 Rebecca Foulger reviewed gene: DNAAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DMPK Rebecca Foulger commented on gene: DMPK: DDG2P rating in original PAGE list: Confirmed for DYSTROPHIA MYOTONICA TYPE 1
Fetal anomalies v0.9 DMP1 Rebecca Foulger reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLL4 Rebecca Foulger reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLL3 Rebecca Foulger reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLG4 Rebecca Foulger reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLG3 Rebecca Foulger reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLD Rebecca Foulger reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DLAT Rebecca Foulger reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DKC1 Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DIS3L2 Rebecca Foulger reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHX30 Rebecca Foulger commented on gene: DHX30: DDG2P rating in original PAGE list: Probable for Neurodevelopmental Disorder
Fetal anomalies v0.9 DHTKD1 Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHODH Rebecca Foulger reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHH Rebecca Foulger reviewed gene: DHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHFR Rebecca Foulger commented on gene: DHFR: DDG2P rating in original PAGE list: Confirmed for MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.9 DHDDS Rebecca Foulger commented on gene: DHDDS: DDG2P rating in original PAGE list: Probable for Epilepsy and intellectual disability
Fetal anomalies v0.9 DHCR7 Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DHCR24 Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DEPDC5 Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DENND5A Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDX6 Rebecca Foulger commented on gene: DDX6: DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 DDX59 Rebecca Foulger commented on gene: DDX59: DDG2P rating in original PAGE list: Probable for OROFACIODIGITAL SYNDROME
Fetal anomalies v0.9 DDX3X Rebecca Foulger commented on gene: DDX3X: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DIABILITY
Fetal anomalies v0.9 DDX11 Rebecca Foulger reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDR2 Rebecca Foulger commented on gene: DDR2: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Fetal anomalies v0.9 DDOST Rebecca Foulger reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDHD2 Rebecca Foulger reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDHD1 Rebecca Foulger reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDC Rebecca Foulger reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DDB2 Rebecca Foulger reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCX Rebecca Foulger commented on gene: DCX: DDG2P rating in original PAGE list: Confirmed for SUBCORTICAL BAND HETEROTOPIA X-LINKED and Confirmed for LISSENCEPHALY X-LINKED TYPE 1.
Fetal anomalies v0.9 DCHS1 Rebecca Foulger reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCDC2 Rebecca Foulger reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DCC Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DBT Rebecca Foulger reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 DARS Rebecca Foulger commented on gene: DARS: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.9 DAG1 Rebecca Foulger commented on gene: DAG1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.9 CYP2U1 Rebecca Foulger reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP21A2 Rebecca Foulger reviewed gene: CYP21A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP1B1 Rebecca Foulger commented on gene: CYP1B1: DDG2P rating in original PAGE list: Confirmed for PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.9 CYP19A1 Rebecca Foulger commented on gene: CYP19A1: DDG2P rating in original PAGE list: Possible.
Fetal anomalies v0.9 CYP17A1 Rebecca Foulger reviewed gene: CYP17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP11B1 Rebecca Foulger reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYP11A1 Rebecca Foulger reviewed gene: CYP11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CYC1 Rebecca Foulger commented on gene: CYC1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Fetal anomalies v0.9 CYB5R3 Rebecca Foulger reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CWC27 Rebecca Foulger reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CUX2 Rebecca Foulger commented on gene: CUX2: DDG2P rating in original PAGE list: Probable for Developmental epileptic encephalopathy
Fetal anomalies v0.9 CUL7 Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CUL4B Rebecca Foulger reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSK Rebecca Foulger reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSD Rebecca Foulger reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTSA Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNS Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNND1 Rebecca Foulger reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTNNB1 Rebecca Foulger reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTDP1 Rebecca Foulger reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTCF Rebecca Foulger reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CTC1 Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSPP1 Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CSNK2A1 Rebecca Foulger commented on gene: CSNK2A1: DDG2P rating in original PAGE list: Confirmed for CSNK2A1 syndrome
Fetal anomalies v0.9 CRYGD Rebecca Foulger commented on gene: CRYGD: DDG2P rating in original PAGE list: Confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 and Confirmed for CATARACT AUTOSOMAL DOMINANT.
Fetal anomalies v0.9 CRYGC Rebecca Foulger reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYBB3 Rebecca Foulger commented on gene: CRYBB3: DDG2P rating in original PAGE list: Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.9 CRYBB2 Rebecca Foulger commented on gene: CRYBB2: DDG2P rating in original PAGE list: Confirmed for CATARACT, COPPOCK-LIKE and Confirmed for CATARACT, CONGENITAL, CERULEAN TYPE, 2.
Fetal anomalies v0.9 CRYBB1 Rebecca Foulger reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYBA4 Rebecca Foulger commented on gene: CRYBA4: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR TYPE 2
Fetal anomalies v0.9 CRYBA1 Rebecca Foulger reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRYAA Rebecca Foulger commented on gene: CRYAA: DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR.
Fetal anomalies v0.9 CRX Rebecca Foulger reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRTAP Rebecca Foulger reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRLF1 Rebecca Foulger reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRELD1 Rebecca Foulger commented on gene: CRELD1: DDG2P rating in original PAGE list: Probable for HETEROTAXY SYNDROME
Fetal anomalies v0.9 CREBBP Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRB2 Rebecca Foulger reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRB1 Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CRADD Rebecca Foulger commented on gene: CRADD: DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly
Fetal anomalies v0.9 CPT2 Rebecca Foulger reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CPS1 Rebecca Foulger reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C5orf42 Rebecca Foulger commented on gene: C5orf42: DDG2P rating in original PAGE list: Confirmed for JOUBERT SYNDROME
Fetal anomalies v0.9 CPAMD8 Rebecca Foulger reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX7B Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX6B1 Rebecca Foulger reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX15 Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COX10 Rebecca Foulger commented on gene: COX10: DDG2P rating in original PAGE list: Confirmed for LEIGH SYNDROME and Confirmed for MITOCHONDRIAL COMPLEX IV DEFICIENCY.
Fetal anomalies v0.9 COQ9 Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ8A Rebecca Foulger reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ4 Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COQ2 Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COMP Rebecca Foulger commented on gene: COMP: DDG2P rating in original PAGE list: Confirmed for ARE THE CAUSE OF PSEUDOACHONDROPLASIA and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1.
Fetal anomalies v0.9 COLEC11 Rebecca Foulger reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COLEC10 Rebecca Foulger reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL9A3 Rebecca Foulger commented on gene: COL9A3: DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3
Fetal anomalies v0.9 COL9A2 Rebecca Foulger commented on gene: COL9A2: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME, TYPE V and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2.
Fetal anomalies v0.9 COL9A1 Rebecca Foulger commented on gene: COL9A1: DDG2P rating in original PAGE list: Confirmed for STICKLER SYNDROME TYPE 4 and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6.
Fetal anomalies v0.9 COL6A3 Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL6A2 Rebecca Foulger reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL6A1 Rebecca Foulger commented on gene: COL6A1: DDG2P rating in original PAGE list: Confirmed for COL6A1 associated myopathy
Fetal anomalies v0.9 COL5A2 Rebecca Foulger reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL5A1 Rebecca Foulger reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL4A4 Rebecca Foulger reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL4A3BP Rebecca Foulger commented on gene: COL4A3BP: DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Fetal anomalies v0.9 COL4A3 Rebecca Foulger reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL2A1 Rebecca Foulger commented on gene: COL2A1: DDG2P rating in original PAGE list: Confirmed for KNIEST DYSPLASIA, Confirmed for ACHONDROGENESIS TYPE 2, Confirmed for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, Confirmed for STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, Confirmed for SPONDYLOPERIPHERAL DYSPLASIA, Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, Confirmed for RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT and Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.
Fetal anomalies v0.9 COL25A1 Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL1A2 Rebecca Foulger reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL1A1 Rebecca Foulger commented on gene: COL1A1: DDG2P rating in original PAGE list: Confirmed for EHLERS-DANLOS SYNDROME TYPE VIIA, Confirmed for OSTEOGENESIS IMPERFECTA TYPE I, Confirmed for OSTEOGENESIS IMPERFECTA TYPE III, Confirmed for EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED, Confirmed for CAFFEY DISEASE, Confirmed for OSTEOGENESIS IMPERFECTA TYPE IIA and Confirmed for COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA.
Fetal anomalies v0.9 COL18A1 Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL13A1 Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COL11A2 Rebecca Foulger commented on gene: COL11A2: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 13, Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, Confirmed for STICKLER SYNDROME TYPE 3 and Confirmed for WEISSENBACHER-ZWEYMUELLER SYNDROME.
Fetal anomalies v0.9 COL11A1 Rebecca Foulger commented on gene: COL11A1: DDG2P rating in original PAGE list: Confirmed for FIBROCHONDROGENESIS and Confirmed for STICKLER SYNDROME, TYPE II.
Fetal anomalies v0.9 COL10A1 Rebecca Foulger commented on gene: COL10A1: DDG2P rating in original PAGE list: Confirmed for SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.9 COG8 Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG7 Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG5 Rebecca Foulger reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG4 Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COG1 Rebecca Foulger reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 COASY Rebecca Foulger reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNTNAP2 Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNTNAP1 Rebecca Foulger reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNOT3 Rebecca Foulger reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CNKSR2 Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLTC Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLPP Rebecca Foulger commented on gene: CLPP: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME
Fetal anomalies v0.9 CLPB Rebecca Foulger reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLP1 Rebecca Foulger commented on gene: CLP1: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Fetal anomalies v0.9 CLN8 Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLN5 Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLN3 Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLMP Rebecca Foulger reviewed gene: CLMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLDN19 Rebecca Foulger commented on gene: CLDN19: DDG2P rating in original PAGE list: Confirmed for HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
Fetal anomalies v0.9 CLCNKB Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CLCN7 Rebecca Foulger reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CKAP2L Rebecca Foulger reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CIT Rebecca Foulger commented on gene: CIT: DDG2P rating in original PAGE list: Probable for PRIMARY MICROCEPHALY
Fetal anomalies v0.9 CIB2 Rebecca Foulger commented on gene: CIB2: DDG2P rating in original PAGE list: Confirmed for USHER SYNDROME TYPE 1J and Confirmed for NONSYNDROMIC DEAFNESS DFNB48.
Fetal anomalies v0.9 CHUK Rebecca Foulger reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHSY1 Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHST3 Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHST14 Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRNG Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRND Rebecca Foulger reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRNB2 Rebecca Foulger commented on gene: CHRNB2: DDG2P rating in original PAGE list: Probable for CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT and Probable NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
Fetal anomalies v0.9 CHRNA4 Rebecca Foulger commented on gene: CHRNA4: DDG2P rating in original PAGE list: Confirmed for NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Fetal anomalies v0.9 CHRNA1 Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHRDL1 Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHMP1A Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHKB Rebecca Foulger reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD8 Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD7 Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD4 Rebecca Foulger reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHD3 Rebecca Foulger commented on gene: CHD3: DDG2P rating in original PAGE list: Probable for Apraxia of speech
Fetal anomalies v0.9 CHD2 Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHAT Rebecca Foulger reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CHAMP1 Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CFTR Rebecca Foulger reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CFL2 Rebecca Foulger commented on gene: CFL2: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 7
Fetal anomalies v0.9 CFC1 Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C21orf2 Rebecca Foulger commented on gene: C21orf2: DDG2P rating in original PAGE list: Confirmed for Axial Spondylometaphyseal Dysplasia
Fetal anomalies v0.9 C21orf59 Rebecca Foulger commented on gene: C21orf59: DDG2P rating in original PAGE list: Probable for PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.9 CEP83 Rebecca Foulger reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP63 Rebecca Foulger reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP57 Rebecca Foulger reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP41 Rebecca Foulger reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP290 Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP164 Rebecca Foulger reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP152 Rebecca Foulger reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP135 Rebecca Foulger reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CEP104 Rebecca Foulger reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CENPJ Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDT1 Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDON Rebecca Foulger commented on gene: CDON: DDG2P rating in original PAGE list: Confirmed for HOLOPROSENCEPHALY 11
Fetal anomalies v0.9 CDKN1C Rebecca Foulger commented on gene: CDKN1C: DDG2P rating in original PAGE list: Confirmed for BECKWITH-WIEDEMANN SYNDROME and Confirmed for IMAGe Syndrome.
Fetal anomalies v0.9 CDKL5 Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDK5RAP2 Rebecca Foulger reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDK13 Rebecca Foulger commented on gene: CDK13: DDG2P rating in original PAGE list: Confirmed for Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.9 CDH3 Rebecca Foulger reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDC6 Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDC45 Rebecca Foulger reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CDAN1 Rebecca Foulger reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CD96 Rebecca Foulger reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CD151 Rebecca Foulger reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 FAM58A Rebecca Foulger commented on gene: FAM58A: DDG2P rating in original PAGE list: Confirmed for STAR SYNDROME
Fetal anomalies v0.9 CCNO Rebecca Foulger reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCND2 Rebecca Foulger commented on gene: CCND2: DDG2P rating in original PAGE list: Confirmed for MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Fetal anomalies v0.9 CCDC88C Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC8 Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC78 Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC65 Rebecca Foulger reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC40 Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC39 Rebecca Foulger reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC22 Rebecca Foulger commented on gene: CCDC22: DDG2P rating in original PAGE list: Probable for SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Fetal anomalies v0.9 CCDC151 Rebecca Foulger reviewed gene: CCDC151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC115 Rebecca Foulger reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC114 Rebecca Foulger reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCDC103 Rebecca Foulger reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CCBE1 Rebecca Foulger reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CC2D2A Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CC2D1A Rebecca Foulger reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CBS Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CBL Rebecca Foulger commented on gene: CBL: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Fetal anomalies v0.9 CAVIN1 Rebecca Foulger reviewed gene: CAVIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CASK Rebecca Foulger commented on gene: CASK: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 and Confirmed for MRX WITH/WITHOUT NYSTAGMUS.
Fetal anomalies v0.9 CARS2 Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMTA1 Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMK2B Rebecca Foulger reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAMK2A Rebecca Foulger reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CAD Rebecca Foulger commented on gene: CAD: DDG2P rating in original PAGE list: Confirmed for Uridine-responsive epileptic encephalopathy
Fetal anomalies v0.9 CACNA1D Rebecca Foulger commented on gene: CACNA1D: DDG2P rating in original PAGE list: Probable for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS and Probable for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES.
Fetal anomalies v0.9 CACNA1C Rebecca Foulger commented on gene: CACNA1C: DDG2P rating in original PAGE list: Confirmed for TIMOTHY SYNDROME
Fetal anomalies v0.9 CACNA1A Rebecca Foulger commented on gene: CACNA1A: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.9 CA8 Rebecca Foulger reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CA5A Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 CA2 Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C8orf37 Rebecca Foulger reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C2CD3 Rebecca Foulger reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C1QBP Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Fetal anomalies v0.9 C12orf65 Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 C12orf57 Rebecca Foulger commented on gene: C12orf57: DDG2P rating in original PAGE list: Probable for TEMTAMY SYNDROME; COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
Fetal anomalies v0.9 BUB1B Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BTD Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BSND Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRWD3 Rebecca Foulger reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRPF1 Rebecca Foulger reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRIP1 Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRAT1 Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BRAF Rebecca Foulger commented on gene: BRAF: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 7, Confirmed for LEOPARD SYNDROME TYPE 3, and Confirmed for CARDIOFACIOCUTANEOUS SYNDROME.
Fetal anomalies v0.9 BPTF Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BOLA3 Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMPR1B Rebecca Foulger reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMPER Rebecca Foulger reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMP4 Rebecca Foulger reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BMP1 Rebecca Foulger reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BLOC1S6 Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BLM Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BIN1 Rebecca Foulger reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BICD2 Rebecca Foulger commented on gene: BICD2: DDG2P rating in original PAGE list: Confirmed for PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Fetal anomalies v0.9 BHLHA9 Rebecca Foulger commented on gene: BHLHA9: DDG2P rating in original PAGE list: Confirmed for MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE and Confirmed for SPLIT HAND AND FOOT MALFORMATION.
Fetal anomalies v0.9 BFSP2 Rebecca Foulger commented on gene: BFSP2: DDG2P rating in original PAGE list: Confirmed for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.9 BCS1L Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCOR Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCL11A Rebecca Foulger reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCKDHB Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCKDHA Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BCAP31 Rebecca Foulger reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS9 Rebecca Foulger reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS7 Rebecca Foulger reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS5 Rebecca Foulger reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS4 Rebecca Foulger reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS2 Rebecca Foulger reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS12 Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS10 Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BBS1 Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 BANF1 Rebecca Foulger commented on gene: BANF1: DDG2P rating in original PAGE list: Probable for NESTOR-GUILLERMO PROGERIA SYNDROME
Fetal anomalies v0.9 B9D1 Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B4GALT7 Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GLCT Rebecca Foulger reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GAT3 Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GALT6 Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 B3GALNT2 Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AUTS2 Rebecca Foulger reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AUH Rebecca Foulger reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATRX Rebecca Foulger reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATR Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP8B1 Rebecca Foulger reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP7A Rebecca Foulger commented on gene: ATP7A: DDG2P rating in original PAGE list: Confirmed for OCCIPITAL HORN SYNDROME, Confirmed for SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 and Confirmed for MENKES DISEASE.
Fetal anomalies v0.9 ATP6V1B2 Rebecca Foulger commented on gene: ATP6V1B2: DDG2P rating in original PAGE list: Probable for ZIMMERMANN-LABAND SYNDROME
Fetal anomalies v0.9 ATP6V1B1 Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATP6V0A2 Rebecca Foulger reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATM Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ATIC Rebecca Foulger reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL3 Rebecca Foulger reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL2 Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASXL1 Rebecca Foulger reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASS1 Rebecca Foulger reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPM Rebecca Foulger reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPH Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASPA Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASNS Rebecca Foulger commented on gene: ASNS: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ASL Rebecca Foulger reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ASAH1 Rebecca Foulger commented on gene: ASAH1: DDG2P rating in original PAGE list: Confirmed for FARBER LIPOGRANULOMATOSIS and Confirmed for SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY.
Fetal anomalies v0.9 ARX Rebecca Foulger commented on gene: ARX: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2.
Fetal anomalies v0.9 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARSB Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARSA Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARMC9 Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARMC4 Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARL6 Rebecca Foulger commented on gene: ARL6: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 3 and Confirmed for RETINITIS PIGMENTOSA TYPE 55.
Fetal anomalies v0.9 ARL13B Rebecca Foulger reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID2 Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID1B Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARID1A Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARHGAP31 Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARG1 Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARFGEF2 Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ARCN1 Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 APTX Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 APOPT1 Rebecca Foulger reviewed gene: APOPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4S1 Rebecca Foulger reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4M1 Rebecca Foulger reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4E1 Rebecca Foulger reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP4B1 Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP3B2 Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP3B1 Rebecca Foulger reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AP1S2 Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANTXR2 Rebecca Foulger reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANTXR1 Rebecca Foulger reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANOS1 Rebecca Foulger reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANKRD26 Rebecca Foulger commented on gene: ANKRD26: DDG2P rating in original PAGE list: Probable for THROMBOCYTOPENIA 2
Fetal anomalies v0.9 ANKRD11 Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ANKH Rebecca Foulger commented on gene: ANKH: DDG2P rating in original PAGE list: Confirmed for CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE and Confirmed for CHONDROCALCINOSIS 2.
Fetal anomalies v0.9 AMT Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AMPD2 Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX4 Rebecca Foulger reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX3 Rebecca Foulger reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALX1 Rebecca Foulger reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALS2 Rebecca Foulger reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALPL Rebecca Foulger commented on gene: ALPL: DDG2P rating in original PAGE list: Confirmed for HYPOPHOSPHATASIA
Fetal anomalies v0.9 ALMS1 Rebecca Foulger reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG9 Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG8 Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG6 Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG3 Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG2 Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG13 Rebecca Foulger commented on gene: ALG13: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHIES, EPILEPTIC ENCEPHALOPATHY and Probable for CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS.
Fetal anomalies v0.9 ALG12 Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG11 Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALG1 Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDOA Rebecca Foulger commented on gene: ALDOA: DDG2P rating in original PAGE list: Confirmed for GLYCOGEN STORAGE DISEASE XII
Fetal anomalies v0.9 ALDH7A1 Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH5A1 Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH4A1 Rebecca Foulger reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH3A2 Rebecca Foulger reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH1A3 Rebecca Foulger reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ALDH18A1 Rebecca Foulger commented on gene: ALDH18A1: DDG2P rating in original PAGE list: Confirmed for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Confirmed for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, and Confirmed for CUTIS LAXA, AUTOSOMAL DOMINANT 3.
Fetal anomalies v0.9 AKT3 Rebecca Foulger commented on gene: AKT3: DDG2P rating in original PAGE list: Probable for HEMIMEGALENCEPHALY AKT3
Fetal anomalies v0.9 AKT1 Rebecca Foulger commented on gene: AKT1: DDG2P rating in original PAGE list: Confirmed for PROTEUS SYNDROME
Fetal anomalies v0.9 AKR1D1 Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AK2 Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIPL1 Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIMP1 Rebecca Foulger reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AIFM1 Rebecca Foulger commented on gene: AIFM1: DDG2P rating in original PAGE list: Probable for COWCHOCK SYNDROME and Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6.
Fetal anomalies v0.9 AHI1 Rebecca Foulger reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AHDC1 Rebecca Foulger reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGRN Rebecca Foulger reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGPS Rebecca Foulger commented on gene: AGPS: DDG2P rating in original PAGE list: Confirmed for RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Fetal anomalies v0.9 AGPAT2 Rebecca Foulger reviewed gene: AGPAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGL Rebecca Foulger reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGK Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AGA Rebecca Foulger reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AFF4 Rebecca Foulger commented on gene: AFF4: DDG2P rating in original PAGE list: Confirmed for CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.9 AFF3 Rebecca Foulger commented on gene: AFF3: DDG2P rating in original PAGE list: Probable for Skeletal dysplasia with severe neurological disease
Fetal anomalies v0.9 AFF2 Rebecca Foulger reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADSL Rebecca Foulger commented on gene: ADSL: DDG2P rating in original PAGE list: Confirmed for ADENYLOSUCCINASE DEFICIENCY
Fetal anomalies v0.9 ADNP Rebecca Foulger reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADGRG6 Rebecca Foulger reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADGRG1 Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTSL2 Rebecca Foulger reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTS17 Rebecca Foulger reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADAMTS10 Rebecca Foulger reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ADA Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACY1 Rebecca Foulger reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACVRL1 Rebecca Foulger reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACVR1 Rebecca Foulger commented on gene: ACVR1: DDG2P rating in original PAGE list: Probable for FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fetal anomalies v0.9 ACTG2 Rebecca Foulger commented on gene: ACTG2: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ACTG1 Rebecca Foulger commented on gene: ACTG1: DDG2P rating in original PAGE list: Confirmed for BARAITSER-WINTER SYNDROME
Fetal anomalies v0.9 ACTC1 Rebecca Foulger reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACTA1 Rebecca Foulger commented on gene: ACTA1: DDG2P rating in original PAGE list: Probable for NEMALINE MYOPATHY 3
Fetal anomalies v0.9 ACSL4 Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACP5 Rebecca Foulger reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACOX1 Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACO2 Rebecca Foulger reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACE Rebecca Foulger reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAT1 Rebecca Foulger reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAN Rebecca Foulger commented on gene: ACAN: DDG2P rating in original PAGE list: Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY and Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE.
Fetal anomalies v0.9 ACADVL Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACADM Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ACAD9 Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABL1 Rebecca Foulger commented on gene: ABL1: DDG2P rating in original PAGE list: Probable for Congenital heart defects and skeletal malformations
Fetal anomalies v0.9 ABHD5 Rebecca Foulger reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCD4 Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCC9 Rebecca Foulger commented on gene: ABCC9: DDG2P rating in original PAGE list: Confirmed for CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.9 ABCC8 Rebecca Foulger commented on gene: ABCC8: DDG2P rating in original PAGE list: Confirmed.
Fetal anomalies v0.9 ABCC6 Rebecca Foulger reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCB7 Rebecca Foulger commented on gene: ABCB7: DDG2P rating in original PAGE list: Confirmed for ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Fetal anomalies v0.9 ABCB11 Rebecca Foulger reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 ABCA12 Rebecca Foulger reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AASS Rebecca Foulger reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AARS Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.9 AAAS Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.8 SUFU Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Medulloblastoma' phenotype: Although this was listed in the 'Additional genes list', this phenotype beongs on the Gene2Phenotype cancer list and not the DD list.
Fetal anomalies v0.8 SUFU Rebecca Foulger Phenotypes for gene: SUFU were changed from Medulloblastoma, desmoplastic 155255; Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400
Fetal anomalies v0.7 ATP1A3 Rebecca Foulger Deleted their comment
Fetal anomalies v0.7 ANO5 Rebecca Foulger Deleted their comment
Fetal anomalies v0.7 RET Rebecca Foulger Deleted their comment
Fetal anomalies v0.7 TIMM8A Rebecca Foulger reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 THAP1 Rebecca Foulger reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 TGFB2 Rebecca Foulger reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SYNE1 Rebecca Foulger reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Rating in original PAGE file: 'both DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.7 SNORD118 Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Rating in original PAGE file: 'both DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.7 SLC4A11 Rebecca Foulger reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Rating in original PAGE file: 'both DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD and RENAL TUBULAR ACIDOSIS, DISTAL, AR.
Fetal anomalies v0.7 RRM2B Rebecca Foulger reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 RET Rebecca Foulger commented on gene: RET: Rating in original PAGE file: 'both DD and IF' for RENAL AGENESIS and MULTIPLE ENDOCRINE NEOPLASIA IIB.
Fetal anomalies v0.7 POLD1 Rebecca Foulger commented on gene: POLD1: Rating in original PAGE file: 'both DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.7 PLA2G6 Rebecca Foulger reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 PDCD10 Rebecca Foulger reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 NR5A1 Rebecca Foulger commented on gene: NR5A1: Rating in original PAGE file: 'both DD and IF' for 46XY SEX REVERSAL 3 and SPERMATOGENIC FAILURE 8.
Fetal anomalies v0.7 MYO7A Rebecca Foulger reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 MYH8 Rebecca Foulger commented on gene: MYH8: Rating in original PAGE file: 'both DD and IF' for CARNEY COMPLEX VARIANT and DISTAL ARTHROGRYPOSIS TYPE.
Fetal anomalies v0.7 MYH6 Rebecca Foulger commented on gene: MYH6: Rating in original PAGE file: 'both DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3, CARDIOMYOPATHY DILATED TYPE 1EE and CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Fetal anomalies v0.7 LMNA Rebecca Foulger commented on gene: LMNA: Rating in original PAGE file: 'both DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, HUTCHINSON-GILFORD PROGERIA SYNDROME, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, LETHAL TIGHT SKIN CONTRACTURE SYNDROME and HEART-HAND SYNDROME SLOVENIAN TYPE.
Fetal anomalies v0.7 LDB3 Rebecca Foulger commented on gene: LDB3: Rating in original PAGE file: 'both DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3 and CARDIOMYOPATHY DILATED TYPE 1C and MYOPATHY MYOFIBRILLAR TYPE 4.
Fetal anomalies v0.7 KRIT1 Rebecca Foulger reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 KIT Rebecca Foulger reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 KCNE1 Rebecca Foulger commented on gene: KCNE1: Rating in original PAGE file: 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
Fetal anomalies v0.7 KARS Rebecca Foulger commented on gene: KARS: Rating in original PAGE file: 'both DD and IF' for both CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B and DEAFNESS, AUTOSOMAL RECESSIVE 89.
Fetal anomalies v0.7 HSPD1 Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 FAM161A Rebecca Foulger reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 DARS2 Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 COL4A2 Rebecca Foulger commented on gene: COL4A2: Rating in original PAGE file: 'both DD and IF' for PORENCEPHALY 2
Fetal anomalies v0.7 COL4A1 Rebecca Foulger commented on gene: COL4A1: Rating in original PAGE file: 'both DD and IF' for PORENCEPHALY 1
Fetal anomalies v0.7 CLN6 Rebecca Foulger commented on gene: CLN6: Rating in original PAGE file: 'both DD and IF' for both CEROID LIPOFUSCINOSIS, NEURONAL, 6 and CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
Fetal anomalies v0.7 CISD2 Rebecca Foulger reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 CDH1 Rebecca Foulger commented on gene: CDH1: Rating in original PAGE file: 'both DD and IF' for Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.7 BRCA2 Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 BRCA1 Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.7 ATP13A2 Rebecca Foulger reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 AR Rebecca Foulger commented on gene: AR: Rating in original PAGE file: 'both DD and IF' for both SPINAL AND BULBAR MUSCULAR ATROPHY and ANDROGEN INSENSITIVITY SYNDROME.
Fetal anomalies v0.7 ANO5 Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA.
Fetal anomalies v0.7 AMER1 Rebecca Foulger reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ALDOB Rebecca Foulger reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ALAD Rebecca Foulger commented on gene: ALAD: Rating in original PAGE file: 'both DD and IF' for ACUTE HEPATIC PORPHYRIA
Fetal anomalies v0.7 AIRE Rebecca Foulger reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 AGXT Rebecca Foulger reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.7 ACTA2 Rebecca Foulger commented on gene: ACTA2: Rating in original PAGE file: 'both DD and IF' for MOYAMOYA DISEASE 5 and AORTIC ANEURYSM, FAMILIAL THORACIC 6.
Fetal anomalies v0.7 ACADS Rebecca Foulger commented on gene: ACADS: Rating in original PAGE file: 'both DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.7 ABCD1 Rebecca Foulger reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.6 RET Rebecca Foulger commented on gene: RET: Rating in original PAGE file: 'Both DD and IF' for RENAL AGENESIS and MULTIPLE ENDOCRINE NEOPLASIA IIB.
Fetal anomalies v0.6 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'Both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD.
Fetal anomalies v0.6 ANO5 Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'Both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA.
Fetal anomalies v0.5 SMAD4 Rebecca Foulger commented on gene: SMAD4: Multiple ratings in original PAGE file: rated as confirmed for MYHRE SYNDROME. Rated as both DD and IF for: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME and JUVENILE POLYPOSIS SYNDROME.
Fetal anomalies v0.5 FMR1 Rebecca Foulger commented on gene: FMR1: Multiple ratings in original PAGE file: rated as confirmed for FRAGILE X SYNDROME. Rated as both DD and IF for: PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 and FRAGILE X TREMOR/ATAXIA SYNDROME.
Fetal anomalies v0.3 TCTN1 Rebecca Foulger Tag watchlist tag was added to gene: TCTN1.
Fetal anomalies v0.3 TCTN1 Rebecca Foulger commented on gene: TCTN1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 BGN Rebecca Foulger Tag watchlist tag was added to gene: BGN.
Fetal anomalies v0.3 BGN Rebecca Foulger commented on gene: BGN: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger Tag watchlist tag was added to gene: TBC1D20.
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger commented on gene: TBC1D20: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ITPR1 Rebecca Foulger Tag watchlist tag was added to gene: ITPR1.
Fetal anomalies v0.3 ITPR1 Rebecca Foulger commented on gene: ITPR1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 BMP2 Rebecca Foulger Tag watchlist tag was added to gene: BMP2.
Fetal anomalies v0.3 BMP2 Rebecca Foulger commented on gene: BMP2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 SUFU Rebecca Foulger Tag watchlist tag was added to gene: SUFU.
Fetal anomalies v0.3 SUFU Rebecca Foulger commented on gene: SUFU: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 KMT2C Rebecca Foulger Tag watchlist tag was added to gene: KMT2C.
Fetal anomalies v0.3 KMT2C Rebecca Foulger commented on gene: KMT2C: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ERCC4 Rebecca Foulger Tag watchlist tag was added to gene: ERCC4.
Fetal anomalies v0.3 ERCC4 Rebecca Foulger commented on gene: ERCC4: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 IL11RA Rebecca Foulger Tag watchlist tag was added to gene: IL11RA.
Fetal anomalies v0.3 IL11RA Rebecca Foulger commented on gene: IL11RA: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger Tag watchlist tag was added to gene: PIEZO1.
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger commented on gene: PIEZO1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 DNAH5 Rebecca Foulger Tag watchlist tag was added to gene: DNAH5.
Fetal anomalies v0.3 DNAH5 Rebecca Foulger commented on gene: DNAH5: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 EMG1 Rebecca Foulger Tag watchlist tag was added to gene: EMG1.
Fetal anomalies v0.3 EMG1 Rebecca Foulger commented on gene: EMG1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MITF Rebecca Foulger Tag watchlist tag was added to gene: MITF.
Fetal anomalies v0.3 MITF Rebecca Foulger commented on gene: MITF: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MAFB Rebecca Foulger Tag watchlist tag was added to gene: MAFB.
Fetal anomalies v0.3 MAFB Rebecca Foulger commented on gene: MAFB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ATAD3A Rebecca Foulger Tag watchlist tag was added to gene: ATAD3A.
Fetal anomalies v0.3 ATAD3A Rebecca Foulger commented on gene: ATAD3A: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 DEAF1 Rebecca Foulger Tag watchlist tag was added to gene: DEAF1.
Fetal anomalies v0.3 DEAF1 Rebecca Foulger commented on gene: DEAF1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TBCE Rebecca Foulger Tag watchlist tag was added to gene: TBCE.
Fetal anomalies v0.3 TBCE Rebecca Foulger commented on gene: TBCE: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 ACTB Rebecca Foulger Tag watchlist tag was added to gene: ACTB.
Fetal anomalies v0.3 ACTB Rebecca Foulger commented on gene: ACTB: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 IFIH1 Rebecca Foulger Tag watchlist tag was added to gene: IFIH1.
Fetal anomalies v0.3 IFIH1 Rebecca Foulger commented on gene: IFIH1: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 TWIST2 Rebecca Foulger Tag watchlist tag was added to gene: TWIST2.
Fetal anomalies v0.3 TWIST2 Rebecca Foulger commented on gene: TWIST2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger Tag watchlist tag was added to gene: MAGEL2.
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger commented on gene: MAGEL2: 'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Fetal anomalies v0.3 NEK1 Rebecca Foulger commented on gene: NEK1: Added 'polygenic' tag because NEK1 listed as digenic (and biallelic) for SHORT RIB-POLYDACTYLY SYNDORME, TYPE II in original PAGE file.
Fetal anomalies v0.3 NEK1 Rebecca Foulger Tag polygenic tag was added to gene: NEK1.
Fetal anomalies v0.3 NEK1 Rebecca Foulger Deleted their comment
Fetal anomalies v0.3 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12
Fetal anomalies v0.3 TRAPPC12 Rebecca Foulger Tag polygenic tag was added to gene: TRAPPC12.
Fetal anomalies v0.3 SMO Rebecca Foulger Tag mosaicism tag was added to gene: SMO.
Fetal anomalies v0.3 SMO Rebecca Foulger commented on gene: SMO: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Curry-Jones Syndrome.
Fetal anomalies v0.3 PTEN Rebecca Foulger Tag mosaicism tag was added to gene: PTEN.
Fetal anomalies v0.3 PTEN Rebecca Foulger commented on gene: PTEN: Mosaicism tag added based on original PAGE file which records Mosaic MOI for PROTEUS SYNDROME.
Fetal anomalies v0.3 PIK3CA Rebecca Foulger Tag mosaicism tag was added to gene: PIK3CA.
Fetal anomalies v0.3 PIK3CA Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added based on original PAGE file which records Mosaic MOI for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3.
Fetal anomalies v0.3 GNAQ Rebecca Foulger Tag mosaicism tag was added to gene: GNAQ.
Fetal anomalies v0.3 GNAQ Rebecca Foulger commented on gene: GNAQ: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital Hemangioma.
Fetal anomalies v0.3 GNA14 Rebecca Foulger Tag mosaicism tag was added to gene: GNA14.
Fetal anomalies v0.3 GNA14 Rebecca Foulger commented on gene: GNA14: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital vascular tumours.
Fetal anomalies v0.3 GNA11 Rebecca Foulger Tag mosaicism tag was added to gene: GNA11.
Fetal anomalies v0.3 GNA11 Rebecca Foulger commented on gene: GNA11: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital Hemangioma.
Fetal anomalies v0.3 FGFR1 Rebecca Foulger Tag mosaicism tag was added to gene: FGFR1.
Fetal anomalies v0.3 FGFR1 Rebecca Foulger commented on gene: FGFR1: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Encephalocraniocutaneous lipomatosis.
Fetal anomalies v0.3 AKT3 Rebecca Foulger Tag mosaicism tag was added to gene: AKT3.
Fetal anomalies v0.3 AKT3 Rebecca Foulger commented on gene: AKT3: Mosaicism tag added based on original PAGE file which records Mosaic MOI for HEMIMEGALENCEPHALY AKT3.
Fetal anomalies v0.3 AKT1 Rebecca Foulger commented on gene: AKT1: Mosaicism tag added based on original PAGE file which records Mosaic MOI for PROTEUS SYNDROME.
Fetal anomalies v0.3 AKT1 Rebecca Foulger Tag mosaicism tag was added to gene: AKT1.
Fetal anomalies v0.3 GNAS Rebecca Foulger commented on gene: GNAS: Mosaicism tag added based on original PAGE file which records Mosaic MOI for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA.
Fetal anomalies v0.3 GNAS Rebecca Foulger Tag mosaicism tag was added to gene: GNAS.
Fetal anomalies v0.3 TMEM5 Rebecca Foulger Tag new-gene-name tag was added to gene: TMEM5.
Fetal anomalies v0.3 TMEM5 Rebecca Foulger commented on gene: TMEM5: Added new-gene-name tag, new approved HGNC gene symbol is RXYLT1
Fetal anomalies v0.3 C2orf71 Rebecca Foulger Tag new-gene-name tag was added to gene: C2orf71.
Fetal anomalies v0.3 C2orf71 Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE
Fetal anomalies v0.3 C4orf26 Rebecca Foulger Tag new-gene-name tag was added to gene: C4orf26.
Fetal anomalies v0.3 C4orf26 Rebecca Foulger commented on gene: C4orf26: Added new-gene-name tag, new approved HGNC gene symbol is ODAPH
Fetal anomalies v0.3 C5orf42 Rebecca Foulger Tag new-gene-name tag was added to gene: C5orf42.
Fetal anomalies v0.3 C5orf42 Rebecca Foulger commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Fetal anomalies v0.3 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
Fetal anomalies v0.3 C21orf2 Rebecca Foulger commented on gene: C21orf2: Added new-gene-name tag, new approved HGNC gene symbol is CFAP410
Fetal anomalies v0.3 C21orf59 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf59.
Fetal anomalies v0.3 C21orf59 Rebecca Foulger commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol is CFAP298
Fetal anomalies v0.3 FAM58A Rebecca Foulger Tag new-gene-name tag was added to gene: FAM58A.
Fetal anomalies v0.3 FAM58A Rebecca Foulger commented on gene: FAM58A: Added new-gene-name tag, new approved HGNC gene symbol is CCNQ
Fetal anomalies v0.3 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHM Rebecca Foulger reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAOA Rebecca Foulger reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NLGN3 Rebecca Foulger reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPLA2 Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ROBO3 Rebecca Foulger reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYO15A Rebecca Foulger reviewed gene: MYO15A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDH23 Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DMD Rebecca Foulger reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TCTN1 Rebecca Foulger reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BGN Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBC1D20 Rebecca Foulger reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ITPR1 Rebecca Foulger reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BMP2 Rebecca Foulger reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SUFU Rebecca Foulger reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KMT2C Rebecca Foulger reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ERCC4 Rebecca Foulger reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IL11RA Rebecca Foulger reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIEZO1 Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNAH5 Rebecca Foulger reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EMG1 Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MITF Rebecca Foulger reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAFB Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATAD3A Rebecca Foulger reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DEAF1 Rebecca Foulger reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBCE Rebecca Foulger reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTB Rebecca Foulger reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFIH1 Rebecca Foulger reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TWIST2 Rebecca Foulger reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CAD Rebecca Foulger reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDAR Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPL11 Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDKN1C Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 YY1 Rebecca Foulger reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UROC1 Rebecca Foulger reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SRP54 Rebecca Foulger reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPRY4 Rebecca Foulger reviewed gene: SPRY4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMC3 Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SC5D Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PROKR2 Rebecca Foulger reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NUP62 Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSMF Rebecca Foulger reviewed gene: NSMF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYT1 Rebecca Foulger reviewed gene: MYT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LFNG Rebecca Foulger reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KLHL7 Rebecca Foulger reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KDM1A Rebecca Foulger reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IL17RD Rebecca Foulger reviewed gene: IL17RD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HYLS1 Rebecca Foulger reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 H19 Rebecca Foulger reviewed gene: H19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLUL Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA3 Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FUZ Rebecca Foulger reviewed gene: FUZ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLRT3 Rebecca Foulger reviewed gene: FLRT3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF8 Rebecca Foulger reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF17 Rebecca Foulger reviewed gene: FGF17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EPHX1 Rebecca Foulger reviewed gene: EPHX1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DUSP6 Rebecca Foulger reviewed gene: DUSP6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDR2 Rebecca Foulger reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYP1B1 Rebecca Foulger reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYP19A1 Rebecca Foulger reviewed gene: CYP19A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBB3 Rebecca Foulger reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLDN19 Rebecca Foulger reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BFSP2 Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCC8 Rebecca Foulger reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAF Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LMNA Rebecca Foulger reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT7A Rebecca Foulger reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH3 Rebecca Foulger reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MED12 Rebecca Foulger reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HSF4 Rebecca Foulger reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA8 Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GDF6 Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GCH1 Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DSP Rebecca Foulger reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYGD Rebecca Foulger reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COX10 Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PHOX2B Rebecca Foulger reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TGFBR1 Rebecca Foulger reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH6 Rebecca Foulger reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HOXD13 Rebecca Foulger reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GDF5 Rebecca Foulger reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC39A13 Rebecca Foulger reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRB3 Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IRF6 Rebecca Foulger reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CIB2 Rebecca Foulger reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NOG Rebecca Foulger reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 STAT1 Rebecca Foulger reviewed gene: STAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLNB Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1D Rebecca Foulger reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH9 Rebecca Foulger reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPT1 Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEK8 Rebecca Foulger reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RET Rebecca Foulger reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCTD7 Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTH1R Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GATA6 Rebecca Foulger reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP7A Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DPAGT1 Rebecca Foulger reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACAN Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDN1 Rebecca Foulger reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANO5 Rebecca Foulger reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 VSX2 Rebecca Foulger reviewed gene: VSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 INPP5E Rebecca Foulger reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PAK3 Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CASK Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ARX Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HSD17B10 Rebecca Foulger reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GUCY2C Rebecca Foulger reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OCRL Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRIM32 Rebecca Foulger reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLR3B Rebecca Foulger reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PLP1 Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPGRIP1 Rebecca Foulger reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PAX6 Rebecca Foulger reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMAD4 Rebecca Foulger reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRA1 Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX2 Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBA1A Rebecca Foulger reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NALCN Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HNF4A Rebecca Foulger reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZIC3 Rebecca Foulger reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNJ11 Rebecca Foulger reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WWOX Rebecca Foulger reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMC1A Rebecca Foulger reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MSX2 Rebecca Foulger reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TP63 Rebecca Foulger reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDA Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBC1D24 Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MYH8 Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTF1A Rebecca Foulger reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DSPP Rebecca Foulger reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANKH Rebecca Foulger reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR19 Rebecca Foulger reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX1 Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ERF Rebecca Foulger reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM67 Rebecca Foulger reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KARS Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLN6 Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBB2 Rebecca Foulger reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYAA Rebecca Foulger reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN2A Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TTC8 Rebecca Foulger reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ARL6 Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN2B Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HR Rebecca Foulger reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NKX2-5 Rebecca Foulger reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DYNC1H1 Rebecca Foulger reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRPS1 Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PITX3 Rebecca Foulger reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3R1 Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF7 Rebecca Foulger reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC26A2 Rebecca Foulger reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNQ5 Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNA2 Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTHLH Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZBTB20 Rebecca Foulger reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB2B Rebecca Foulger reviewed gene: TUBB2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SRCAP Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPTAN1 Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP2R5D Rebecca Foulger reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP2R1A Rebecca Foulger reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KLF1 Rebecca Foulger reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF2A Rebecca Foulger reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GFAP Rebecca Foulger reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FZD5 Rebecca Foulger reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBN2 Rebecca Foulger reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DVL3 Rebecca Foulger reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DPF2 Rebecca Foulger reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRYBA4 Rebecca Foulger reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A3 Rebecca Foulger reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A2 Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A1 Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL10A1 Rebecca Foulger reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP6V1B2 Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL11A1 Rebecca Foulger reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AR Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALDH18A1 Rebecca Foulger reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX10 Rebecca Foulger reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A1 Rebecca Foulger reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL9A2 Rebecca Foulger reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RARB Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBN1 Rebecca Foulger reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EMC1 Rebecca Foulger reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BHLHA9 Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL2A1 Rebecca Foulger reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HPD Rebecca Foulger reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KAT6B Rebecca Foulger reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL1A1 Rebecca Foulger reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WT1 Rebecca Foulger reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COMP Rebecca Foulger reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL11A2 Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX9 Rebecca Foulger reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WRAP53 Rebecca Foulger reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT5A Rebecca Foulger reviewed gene: WNT5A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR11 Rebecca Foulger reviewed gene: WDR11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UQCRQ Rebecca Foulger reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUFM Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBG1 Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB2A Rebecca Foulger reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TTI2 Rebecca Foulger reviewed gene: TTI2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN34 Rebecca Foulger reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN2 Rebecca Foulger reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSEN15 Rebecca Foulger reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRPV3 Rebecca Foulger reviewed gene: TRPV3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRMT10C Rebecca Foulger reviewed gene: TRMT10C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRIO Rebecca Foulger reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TPM2 Rebecca Foulger reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM216 Rebecca Foulger reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TK2 Rebecca Foulger reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 THOC2 Rebecca Foulger reviewed gene: THOC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TGFB1 Rebecca Foulger reviewed gene: TGFB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TFAP2B Rebecca Foulger reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TFAP2A Rebecca Foulger reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TERT Rebecca Foulger reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TELO2 Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TEK Rebecca Foulger reviewed gene: TEK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TBXAS1 Rebecca Foulger reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAF13 Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TACR3 Rebecca Foulger reviewed gene: TACR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAC3 Rebecca Foulger reviewed gene: TAC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TAB2 Rebecca Foulger reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ST3GAL3 Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ST14 Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPECC1L Rebecca Foulger reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SPARC Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX17 Rebecca Foulger reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX11 Rebecca Foulger reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SNRPE Rebecca Foulger reviewed gene: SNRPE: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SNAP25 Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMCHD1 Rebecca Foulger reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMARCE1 Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC6A17 Rebecca Foulger reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC5A7 Rebecca Foulger reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC45A1 Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC39A8 Rebecca Foulger reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A4 Rebecca Foulger reviewed gene: SLC25A4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A24 Rebecca Foulger reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A22 Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC25A19 Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC1A2 Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SKI Rebecca Foulger reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIX5 Rebecca Foulger reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SDHAF1 Rebecca Foulger reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN3A Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SASS6 Rebecca Foulger reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RTTN Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPS23 Rebecca Foulger reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RLIM Rebecca Foulger reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RBPJ Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAD51C Rebecca Foulger reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAC1 Rebecca Foulger reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAB11A Rebecca Foulger reviewed gene: RAB11A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PYCR2 Rebecca Foulger reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRKD1 Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPP1CB Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PPA2 Rebecca Foulger reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLG Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 POLD1 Rebecca Foulger reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PLCB4 Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGY Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGV Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGT Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIGN Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PGAP2 Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDSS1 Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 P4HB Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OSGEP Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSUN2 Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NHP2 Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NFU1 Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEDD4L Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFS8 Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MRPS22 Rebecca Foulger reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MOGS Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MFSD2A Rebecca Foulger reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MED17 Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MATN3 Rebecca Foulger reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAPRE2 Rebecca Foulger reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAN1B1 Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LONP1 Rebecca Foulger reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIPT1 Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LIAS Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LARS2 Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KRT74 Rebecca Foulger reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF5C Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIAA1109 Rebecca Foulger reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNJ6 Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNE1 Rebecca Foulger reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNC3 Rebecca Foulger reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNB1 Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KBTBD13 Rebecca Foulger reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IRX5 Rebecca Foulger reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IQSEC2 Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 INPP5K Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT80 Rebecca Foulger reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT43 Rebecca Foulger reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFT122 Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HUWE1 Rebecca Foulger reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HOXB1 Rebecca Foulger reviewed gene: HOXB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HNRNPH2 Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HMGCS2 Rebecca Foulger reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HIST1H4C Rebecca Foulger reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HECW2 Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HCN1 Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 H3F3A Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GTF2E2 Rebecca Foulger reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN1 Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRHL2 Rebecca Foulger reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GPI Rebecca Foulger reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAI3 Rebecca Foulger reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GMPPB Rebecca Foulger reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLE1 Rebecca Foulger reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GCDH Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GABRB2 Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FOXE1 Rebecca Foulger reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FN1 Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLVCR1 Rebecca Foulger reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLT4 Rebecca Foulger reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FBLN5 Rebecca Foulger reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EZH2 Rebecca Foulger reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EXOSC3 Rebecca Foulger reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EED Rebecca Foulger reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DOLK Rebecca Foulger reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNM1 Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DNAAF5 Rebecca Foulger reviewed gene: DNAAF5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHX30 Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHFR Rebecca Foulger reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DHDDS Rebecca Foulger reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX6 Rebecca Foulger reviewed gene: DDX6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX59 Rebecca Foulger reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DARS Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DAG1 Rebecca Foulger reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CYC1 Rebecca Foulger reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CUX2 Rebecca Foulger reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRELD1 Rebecca Foulger reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CRADD Rebecca Foulger reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL6A1 Rebecca Foulger reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLPP Rebecca Foulger reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CLP1 Rebecca Foulger reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CIT Rebecca Foulger reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHD3 Rebecca Foulger reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CFL2 Rebecca Foulger reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDON Rebecca Foulger reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDK13 Rebecca Foulger reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CDH1 Rebecca Foulger reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CCDC22 Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C1QBP Rebecca Foulger reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C12orf57 Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BICD2 Rebecca Foulger reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BANF1 Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ASNS Rebecca Foulger reviewed gene: ASNS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALPL Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALDOA Rebecca Foulger reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALAD Rebecca Foulger reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AFF3 Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ADSL Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTG1 Rebecca Foulger reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTA1 Rebecca Foulger reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TSHR Rebecca Foulger reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ASAH1 Rebecca Foulger reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTA2 Rebecca Foulger reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WNT4 Rebecca Foulger reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 WDR34 Rebecca Foulger reviewed gene: WDR34: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB3 Rebecca Foulger reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB Rebecca Foulger reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMARCA2 Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SLC4A1 Rebecca Foulger reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIX1 Rebecca Foulger reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NR5A1 Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP3K7 Rebecca Foulger reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IHH Rebecca Foulger reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AIFM1 Rebecca Foulger reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LDB3 Rebecca Foulger reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GJC2 Rebecca Foulger reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACTG2 Rebecca Foulger reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZSWIM6 Rebecca Foulger reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZIC1 Rebecca Foulger reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 YWHAG Rebecca Foulger reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UBTF Rebecca Foulger reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TUBB4A Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOS1 Rebecca Foulger reviewed gene: SOS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SIK1 Rebecca Foulger reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RRAS Rebecca Foulger reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTDSS1 Rebecca Foulger reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE4D Rebecca Foulger reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PCGF2 Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NOTCH2 Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NACC1 Rebecca Foulger reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MECOM Rebecca Foulger reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KIF22 Rebecca Foulger reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCTD1 Rebecca Foulger reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNH1 Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNC1 Rebecca Foulger reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GRIN2D Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNB1 Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GMNN Rebecca Foulger reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GLUD1 Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGF12 Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FAM111A Rebecca Foulger reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EEF1A2 Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EDNRA Rebecca Foulger reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DVL1 Rebecca Foulger reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CSNK2A1 Rebecca Foulger reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 COL4A3BP Rebecca Foulger reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHRNA4 Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CCND2 Rebecca Foulger reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CBL Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CACNA1C Rebecca Foulger reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AFF4 Rebecca Foulger reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACVR1 Rebecca Foulger reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABL1 Rebecca Foulger reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCC9 Rebecca Foulger reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAB21L2 Rebecca Foulger reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KCNT1 Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 LRP5 Rebecca Foulger reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR2 Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDGFRB Rebecca Foulger reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 CHRNB2 Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IFITM5 Rebecca Foulger reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 EIF4A3 Rebecca Foulger reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ANKRD26 Rebecca Foulger reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDE6H Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HCFC1 Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MAGEL2 Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 IGF2 Rebecca Foulger reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 UBE3A Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FLNA Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NAA10 Rebecca Foulger reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SOX3 Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MECP2 Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DCX Rebecca Foulger reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEXMIF Rebecca Foulger reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FMR1 Rebecca Foulger reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ALG13 Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 HDAC8 Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 RPS6KA3 Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 USP9X Rebecca Foulger reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 DDX3X Rebecca Foulger reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ZC4H2 Rebecca Foulger reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FGFR1 Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 SMO Rebecca Foulger reviewed gene: SMO: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNA14 Rebecca Foulger reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 NEK1 Rebecca Foulger reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ACADS Rebecca Foulger reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 ABCB7 Rebecca Foulger reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 TMEM5 Rebecca Foulger reviewed gene: TMEM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C2orf71 Rebecca Foulger reviewed gene: C2orf71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C4orf26 Rebecca Foulger reviewed gene: C4orf26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C5orf42 Rebecca Foulger reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C21orf2 Rebecca Foulger reviewed gene: C21orf2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 C21orf59 Rebecca Foulger reviewed gene: C21orf59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 FAM58A Rebecca Foulger reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.3 MMP13 Rebecca Foulger reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.2 Rebecca Foulger Panel status changed from public to internal
Fetal anomalies v0.1 CHM Rebecca Foulger gene: CHM was added
gene: CHM was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CHM was set to
Fetal anomalies v0.1 NLGN3 Rebecca Foulger gene: NLGN3 was added
gene: NLGN3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NLGN3 was set to
Fetal anomalies v0.1 PNPLA2 Rebecca Foulger gene: PNPLA2 was added
gene: PNPLA2 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: PNPLA2 was set to
Fetal anomalies v0.1 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: GJB3 was set to
Fetal anomalies v0.1 ROBO3 Rebecca Foulger gene: ROBO3 was added
gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: ROBO3 was set to
Fetal anomalies v0.1 NRXN1 Rebecca Foulger gene: NRXN1 was added
gene: NRXN1 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: NRXN1 was set to
Fetal anomalies v0.1 MYO15A Rebecca Foulger gene: MYO15A was added
gene: MYO15A was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: MYO15A was set to
Fetal anomalies v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: CDH23 was set to
Fetal anomalies v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to Fetal anomalies. Sources: Expert Review Removed
Mode of inheritance for gene: DMD was set to
Fetal anomalies v0.1 ZSWIM6 Rebecca Foulger gene: ZSWIM6 was added
gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS
Fetal anomalies v0.1 ZNF750 Rebecca Foulger gene: ZNF750 was added
gene: ZNF750 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Fetal anomalies v0.1 ZNF711 Rebecca Foulger gene: ZNF711 was added
gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED
Fetal anomalies v0.1 ZNF462 Rebecca Foulger gene: ZNF462 was added
gene: ZNF462 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Fetal anomalies v0.1 ZNF423 Rebecca Foulger Added phenotypes Nephronophthisis 14 614844 for gene: ZNF423
Fetal anomalies v0.1 ZNF423 Rebecca Foulger gene: ZNF423 was added
gene: ZNF423 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844
Fetal anomalies v0.1 ZMYND11 Rebecca Foulger gene: ZMYND11 was added
gene: ZMYND11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZMYND10 Rebecca Foulger gene: ZMYND10 was added
gene: ZMYND10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22
Fetal anomalies v0.1 ZMPSTE24 Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY for gene: ZMPSTE24
Fetal anomalies v0.1 ZMPSTE24 Rebecca Foulger gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED
Fetal anomalies v0.1 ZIC3 Rebecca Foulger Added phenotypes HETEROTAXY SYNDROME for gene: ZIC3
Fetal anomalies v0.1 ZIC3 Rebecca Foulger gene: ZIC3 was added
gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Fetal anomalies v0.1 ZIC2 Rebecca Foulger gene: ZIC2 was added
gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 ZIC1 Rebecca Foulger gene: ZIC1 was added
gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6
Fetal anomalies v0.1 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
Fetal anomalies v0.1 ZFP57 Rebecca Foulger gene: ZFP57 was added
gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
Fetal anomalies v0.1 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME
Fetal anomalies v0.1 ZDHHC9 Rebecca Foulger gene: ZDHHC9 was added
gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Fetal anomalies v0.1 ZC4H2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY for gene: ZC4H2
Fetal anomalies v0.1 ZC4H2 Rebecca Foulger gene: ZC4H2 was added
gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ZBTB20 Rebecca Foulger gene: ZBTB20 was added
gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME
Fetal anomalies v0.1 ZBTB18 Rebecca Foulger gene: ZBTB18 was added
gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome
Fetal anomalies v0.1 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 YWHAG Rebecca Foulger gene: YWHAG was added
gene: YWHAG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Fetal anomalies v0.1 YAP1 Rebecca Foulger gene: YAP1 was added
gene: YAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Fetal anomalies v0.1 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME
Fetal anomalies v0.1 XYLT1 Rebecca Foulger gene: XYLT1 was added
gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2
Fetal anomalies v0.1 XRCC4 Rebecca Foulger gene: XRCC4 was added
gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 XPC Rebecca Foulger gene: XPC was added
gene: XPC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C
Fetal anomalies v0.1 XPA Rebecca Foulger gene: XPA was added
gene: XPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A
Fetal anomalies v0.1 WWOX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 for gene: WWOX
Fetal anomalies v0.1 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 WT1 Rebecca Foulger Added phenotypes FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME for gene: WT1
Fetal anomalies v0.1 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME
Fetal anomalies v0.1 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.1 WNT7A Rebecca Foulger Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME for gene: WNT7A
Fetal anomalies v0.1 WNT7A Rebecca Foulger gene: WNT7A was added
gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME
Fetal anomalies v0.1 WNT5A Rebecca Foulger gene: WNT5A was added
gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT
Fetal anomalies v0.1 WNT4 Rebecca Foulger Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM for gene: WNT4
Fetal anomalies v0.1 WNT4 Rebecca Foulger gene: WNT4 was added
gene: WNT4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT4 were set to SERKAL SYNDROME
Fetal anomalies v0.1 WNT3 Rebecca Foulger gene: WNT3 was added
gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME
Fetal anomalies v0.1 WNT10B Rebecca Foulger gene: WNT10B was added
gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6
Fetal anomalies v0.1 WNT1 Rebecca Foulger gene: WNT1 was added
gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.1 WDR62 Rebecca Foulger gene: WDR62 was added
gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
Fetal anomalies v0.1 WDR60 Rebecca Foulger Added phenotypes SHORT-RIB POLYDACTYLY for gene: WDR60
Fetal anomalies v0.1 WDR60 Rebecca Foulger gene: WDR60 was added
gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES
Fetal anomalies v0.1 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.1 WDR35 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME, TYPE V for gene: WDR35
Fetal anomalies v0.1 WDR35 Rebecca Foulger gene: WDR35 was added
gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2
Fetal anomalies v0.1 WDR34 Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34
Fetal anomalies v0.1 WDR34 Rebecca Foulger gene: WDR34 was added
gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III
Fetal anomalies v0.1 WDR26 Rebecca Foulger gene: WDR26 was added
gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Fetal anomalies v0.1 WDR19 Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 for gene: WDR19
Fetal anomalies v0.1 WDR19 Rebecca Foulger gene: WDR19 was added
gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4
Fetal anomalies v0.1 WDR11 Rebecca Foulger gene: WDR11 was added
gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME
Fetal anomalies v0.1 WDPCP Rebecca Foulger gene: WDPCP was added
gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15
Fetal anomalies v0.1 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210
Fetal anomalies v0.1 WAC Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC
Fetal anomalies v0.1 WAC Rebecca Foulger gene: WAC was added
gene: WAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 2 for gene: VSX2
Fetal anomalies v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 for gene: VSX2
Fetal anomalies v0.1 VSX2 Rebecca Foulger gene: VSX2 was added
gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES
Fetal anomalies v0.1 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.1 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744; 12920088
Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
Fetal anomalies v0.1 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Fetal anomalies v0.1 VPS13B Rebecca Foulger gene: VPS13B was added
gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to COHEN SYNDROME
Fetal anomalies v0.1 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1
Fetal anomalies v0.1 VIPAS39 Rebecca Foulger gene: VIPAS39 was added
gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Fetal anomalies v0.1 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A
Fetal anomalies v0.1 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME
Fetal anomalies v0.1 USP9X Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 for gene: USP9X
Fetal anomalies v0.1 USP9X Rebecca Foulger gene: USP9X was added
gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99
Fetal anomalies v0.1 USP27X Rebecca Foulger gene: USP27X was added
gene: USP27X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 USP18 Rebecca Foulger gene: USP18 was added
gene: USP18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome
Fetal anomalies v0.1 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Fetal anomalies v0.1 UROS Rebecca Foulger gene: UROS was added
gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA
Fetal anomalies v0.1 UROC1 Rebecca Foulger gene: UROC1 was added
gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY
Fetal anomalies v0.1 UQCRQ Rebecca Foulger gene: UQCRQ was added
gene: UQCRQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Fetal anomalies v0.1 UQCRB Rebecca Foulger gene: UQCRB was added
gene: UQCRB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED
Fetal anomalies v0.1 UPF3B Rebecca Foulger gene: UPF3B was added
gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Fetal anomalies v0.1 UNC80 Rebecca Foulger gene: UNC80 was added
gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Fetal anomalies v0.1 UMPS Rebecca Foulger gene: UMPS was added
gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1
Fetal anomalies v0.1 UGT1A1 Rebecca Foulger gene: UGT1A1 was added
gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I
Fetal anomalies v0.1 UBTF Rebecca Foulger gene: UBTF was added
gene: UBTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration
Fetal anomalies v0.1 UBR1 Rebecca Foulger gene: UBR1 was added
gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME
Fetal anomalies v0.1 UBE3B Rebecca Foulger gene: UBE3B was added
gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION
Fetal anomalies v0.1 UBE3A Rebecca Foulger gene: UBE3A was added
gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME
Fetal anomalies v0.1 UBE2T Rebecca Foulger gene: UBE2T was added
gene: UBE2T was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T
Fetal anomalies v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Fetal anomalies v0.1 UBA5 Rebecca Foulger gene: UBA5 was added
gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy
Fetal anomalies v0.1 UBA1 Rebecca Foulger gene: UBA1 was added
gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
Fetal anomalies v0.1 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3
Fetal anomalies v0.1 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1
Fetal anomalies v0.1 TXNL4A Rebecca Foulger gene: TXNL4A was added
gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME
Fetal anomalies v0.1 TWIST2 Rebecca Foulger Added phenotypes SETLEIS SYNDROME for gene: TWIST2
Fetal anomalies v0.1 TWIST2 Rebecca Foulger gene: TWIST2 was added
gene: TWIST2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME
Fetal anomalies v0.1 TWIST1 Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 1 for gene: TWIST1
Fetal anomalies v0.1 TWIST1 Rebecca Foulger gene: TWIST1 was added
gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME
Fetal anomalies v0.1 TUSC3 Rebecca Foulger gene: TUSC3 was added
gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7
Fetal anomalies v0.1 TUFM Rebecca Foulger gene: TUFM was added
gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Fetal anomalies v0.1 TUBGCP6 Rebecca Foulger gene: TUBGCP6 was added
gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION
Fetal anomalies v0.1 TUBGCP4 Rebecca Foulger gene: TUBGCP4 was added
gene: TUBGCP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Fetal anomalies v0.1 TUBG1 Rebecca Foulger gene: TUBG1 was added
gene: TUBG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly
Fetal anomalies v0.1 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Fetal anomalies v0.1 TUBB3 Rebecca Foulger Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 for gene: TUBB3
Fetal anomalies v0.1 TUBB3 Rebecca Foulger gene: TUBB3 was added
gene: TUBB3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Fetal anomalies v0.1 TUBB2B Rebecca Foulger gene: TUBB2B was added
gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC
Fetal anomalies v0.1 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
Fetal anomalies v0.1 TUBB Rebecca Foulger Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB
Fetal anomalies v0.1 TUBB Rebecca Foulger gene: TUBB was added
gene: TUBB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Fetal anomalies v0.1 TUBA8 Rebecca Foulger gene: TUBA8 was added
gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
Fetal anomalies v0.1 TUBA1A Rebecca Foulger Added phenotypes LISSENCEPHALY TYPE 3 for gene: TUBA1A
Fetal anomalies v0.1 TUBA1A Rebecca Foulger gene: TUBA1A was added
gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TTI2 Rebecca Foulger gene: TTI2 was added
gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 TTC8 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 for gene: TTC8
Fetal anomalies v0.1 TTC8 Rebecca Foulger gene: TTC8 was added
gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51
Fetal anomalies v0.1 TTC7A Rebecca Foulger gene: TTC7A was added
gene: TTC7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE
Fetal anomalies v0.1 TTC37 Rebecca Foulger gene: TTC37 was added
gene: TTC37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME
Fetal anomalies v0.1 TTC25 Rebecca Foulger gene: TTC25 was added
gene: TTC25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Fetal anomalies v0.1 TTC21B Rebecca Foulger gene: TTC21B was added
gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Fetal anomalies v0.1 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY
Fetal anomalies v0.1 TSPAN7 Rebecca Foulger gene: TSPAN7 was added
gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58
Fetal anomalies v0.1 TSHR Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL for gene: TSHR
Fetal anomalies v0.1 TSHR Rebecca Foulger gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
Fetal anomalies v0.1 TSHB Rebecca Foulger gene: TSHB was added
gene: TSHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Fetal anomalies v0.1 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.1 TSEN15 Rebecca Foulger gene: TSEN15 was added
gene: TSEN15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Fetal anomalies v0.1 TSC2 Rebecca Foulger Added phenotypes TUBEROUS SCLEROSIS TYPE 2 for gene: TSC2
Fetal anomalies v0.1 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS
Fetal anomalies v0.1 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1
Fetal anomalies v0.1 TRPV4 Rebecca Foulger Added phenotypes METATROPIC DYSPLASIA for gene: TRPV4
Fetal anomalies v0.1 TRPV4 Rebecca Foulger gene: TRPV4 was added
gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Fetal anomalies v0.1 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME
Fetal anomalies v0.1 TRPS1 Rebecca Foulger gene: TRPS1 was added
gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1
Fetal anomalies v0.1 TRPM1 Rebecca Foulger gene: TRPM1 was added
gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Fetal anomalies v0.1 TRMT10C Rebecca Foulger gene: TRMT10C was added
gene: TRMT10C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Fetal anomalies v0.1 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Fetal anomalies v0.1 TRIP13 Rebecca Foulger gene: TRIP13 was added
gene: TRIP13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
Fetal anomalies v0.1 TRIP12 Rebecca Foulger gene: TRIP12 was added
gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder
Fetal anomalies v0.1 TRIP11 Rebecca Foulger gene: TRIP11 was added
gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A
Fetal anomalies v0.1 TRIO Rebecca Foulger gene: TRIO was added
gene: TRIO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 TRIM37 Rebecca Foulger gene: TRIM37 was added
gene: TRIM37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM
Fetal anomalies v0.1 TRIM32 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H for gene: TRIM32
Fetal anomalies v0.1 TRIM32 Rebecca Foulger gene: TRIM32 was added
gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11
Fetal anomalies v0.1 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE
Fetal anomalies v0.1 TRAPPC9 Rebecca Foulger gene: TRAPPC9 was added
gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13
Fetal anomalies v0.1 TRAPPC2 Rebecca Foulger gene: TRAPPC2 was added
gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Fetal anomalies v0.1 TRAPPC12 Rebecca Foulger gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction
Fetal anomalies v0.1 TRAPPC11 Rebecca Foulger gene: TRAPPC11 was added
gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Fetal anomalies v0.1 TRAIP Rebecca Foulger gene: TRAIP was added
gene: TRAIP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM
Fetal anomalies v0.1 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Fetal anomalies v0.1 TPM3 Rebecca Foulger Added phenotypes Congenital fiber-type disproportion myopathy 255310 for gene: TPM3
Fetal anomalies v0.1 TPM3 Rebecca Foulger gene: TPM3 was added
gene: TPM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Congenital fiber-type disproportion myopathy 255310
Fetal anomalies v0.1 TPM2 Rebecca Foulger gene: TPM2 was added
gene: TPM2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
Fetal anomalies v0.1 TOE1 Rebecca Foulger gene: TOE1 was added
gene: TOE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Vesicoureteral reflux 8 615963 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency 606408 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger Added phenotypes Vesicoureteral reflux 8 615963 for gene: TNXB
Fetal anomalies v0.1 TNXB Rebecca Foulger gene: TNXB was added
gene: TNXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency 606408
Fetal anomalies v0.1 TNNT1 Rebecca Foulger gene: TNNT1 was added
gene: TNNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type 605355
Fetal anomalies v0.1 TNNI2 Rebecca Foulger gene: TNNI2 was added
gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680
Fetal anomalies v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2
Fetal anomalies v0.1 TNFRSF11B Rebecca Foulger gene: TNFRSF11B was added
gene: TNFRSF11B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease 239000
Fetal anomalies v0.1 TMTC3 Rebecca Foulger gene: TMTC3 was added
gene: TMTC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly
Fetal anomalies v0.1 TMPRSS6 Rebecca Foulger gene: TMPRSS6 was added
gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Fetal anomalies v0.1 TMEM70 Rebecca Foulger gene: TMEM70 was added
gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 11 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 6 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 3 for gene: TMEM67
Fetal anomalies v0.1 TMEM67 Rebecca Foulger gene: TMEM67 was added
gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH SYNDROM
Fetal anomalies v0.1 TMEM260 Rebecca Foulger gene: TMEM260 was added
gene: TMEM260 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome
Fetal anomalies v0.1 TMEM237 Rebecca Foulger gene: TMEM237 was added
gene: TMEM237 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14
Fetal anomalies v0.1 TMEM231 Rebecca Foulger Added phenotypes Meckel syndrome 11 615397 for gene: TMEM231
Fetal anomalies v0.1 TMEM231 Rebecca Foulger gene: TMEM231 was added
gene: TMEM231 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970
Fetal anomalies v0.1 TMEM216 Rebecca Foulger gene: TMEM216 was added
gene: TMEM216 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2
Fetal anomalies v0.1 TMEM165 Rebecca Foulger gene: TMEM165 was added
gene: TMEM165 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Fetal anomalies v0.1 TMEM138 Rebecca Foulger gene: TMEM138 was added
gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465
Fetal anomalies v0.1 TMEM126B Rebecca Foulger gene: TMEM126B was added
gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency
Fetal anomalies v0.1 TMCO1 Rebecca Foulger gene: TMCO1 was added
gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 TKT Rebecca Foulger gene: TKT was added
gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
Fetal anomalies v0.1 TK2 Rebecca Foulger gene: TK2 was added
gene: TK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Fetal anomalies v0.1 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
Fetal anomalies v0.1 TIMM8A Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME for gene: TIMM8A
Fetal anomalies v0.1 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME
Fetal anomalies v0.1 THRA Rebecca Foulger gene: THRA was added
gene: THRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Fetal anomalies v0.1 THOC6 Rebecca Foulger gene: THOC6 was added
gene: THOC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome
Fetal anomalies v0.1 THOC2 Rebecca Foulger gene: THOC2 was added
gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12
Fetal anomalies v0.1 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION
Fetal anomalies v0.1 TH Rebecca Foulger gene: TH was added
gene: TH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA
Fetal anomalies v0.1 TGM1 Rebecca Foulger gene: TGM1 was added
gene: TGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 242300
Fetal anomalies v0.1 TGIF1 Rebecca Foulger Source PAGE Additional Gene List was added to TGIF1.
Added phenotypes Holoprosencephaly 4 142946 for gene: TGIF1
Fetal anomalies v0.1 TGIF1 Rebecca Foulger gene: TGIF1 was added
gene: TGIF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 TGFBR2 Rebecca Foulger Added phenotypes TGFBR2-RELATED LOEYS-DIETZ SYNDROME for gene: TGFBR2
Fetal anomalies v0.1 TGFBR2 Rebecca Foulger gene: TGFBR2 was added
gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 for gene: TGFBR1
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A for gene: TGFBR1
Fetal anomalies v0.1 TGFBR1 Rebecca Foulger gene: TGFBR1 was added
gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A
Fetal anomalies v0.1 TGFB3 Rebecca Foulger gene: TGFB3 was added
gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 TGFB2 Rebecca Foulger gene: TGFB2 was added
gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4
Fetal anomalies v0.1 TGFB1 Rebecca Foulger gene: TGFB1 was added
gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE
Fetal anomalies v0.1 TGDS Rebecca Foulger gene: TGDS was added
gene: TGDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME
Fetal anomalies v0.1 TFAP2B Rebecca Foulger gene: TFAP2B was added
gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME
Fetal anomalies v0.1 TFAP2A Rebecca Foulger gene: TFAP2A was added
gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME
Fetal anomalies v0.1 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4
Fetal anomalies v0.1 TELO2 Rebecca Foulger gene: TELO2 was added
gene: TELO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder
Fetal anomalies v0.1 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Fetal anomalies v0.1 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS
Fetal anomalies v0.1 TCTN3 Rebecca Foulger gene: TCTN3 was added
gene: TCTN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME
Fetal anomalies v0.1 TCTN2 Rebecca Foulger gene: TCTN2 was added
gene: TCTN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCTN1 Rebecca Foulger Source PAGE Additional Gene List was added to TCTN1.
Added phenotypes Joubert syndrome 13 614173 for gene: TCTN1
Fetal anomalies v0.1 TCTN1 Rebecca Foulger gene: TCTN1 was added
gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS
Fetal anomalies v0.1 TCOF1 Rebecca Foulger gene: TCOF1 was added
gene: TCOF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1
Fetal anomalies v0.1 TCN2 Rebecca Foulger gene: TCN2 was added
gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency
Fetal anomalies v0.1 TCIRG1 Rebecca Foulger gene: TCIRG1 was added
gene: TCIRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant 259700
Fetal anomalies v0.1 TCF4 Rebecca Foulger gene: TCF4 was added
gene: TCF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME
Fetal anomalies v0.1 TCF20 Rebecca Foulger gene: TCF20 was added
gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF20 were set to TCF20 syndrome
Fetal anomalies v0.1 TCF12 Rebecca Foulger gene: TCF12 was added
gene: TCF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS
Fetal anomalies v0.1 TBXAS1 Rebecca Foulger gene: TBXAS1 was added
gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME
Fetal anomalies v0.1 TBX6 Rebecca Foulger gene: TBX6 was added
gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600
Fetal anomalies v0.1 TBX5 Rebecca Foulger gene: TBX5 was added
gene: TBX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME
Fetal anomalies v0.1 TBX4 Rebecca Foulger gene: TBX4 was added
gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME
Fetal anomalies v0.1 TBX3 Rebecca Foulger gene: TBX3 was added
gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME
Fetal anomalies v0.1 TBX22 Rebecca Foulger gene: TBX22 was added
gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED
Fetal anomalies v0.1 TBX20 Rebecca Foulger gene: TBX20 was added
gene: TBX20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4
Fetal anomalies v0.1 TBX18 Rebecca Foulger gene: TBX18 was added
gene: TBX18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
Fetal anomalies v0.1 TBX15 Rebecca Foulger gene: TBX15 was added
gene: TBX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome
Fetal anomalies v0.1 TBX1 Rebecca Foulger gene: TBX1 was added
gene: TBX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME
Fetal anomalies v0.1 TBR1 Rebecca Foulger gene: TBR1 was added
gene: TBR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBR1 were set to AUTISM
Fetal anomalies v0.1 TBL1XR1 Rebecca Foulger gene: TBL1XR1 was added
gene: TBL1XR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBL1XR1 were set to AUTISM
Fetal anomalies v0.1 TBCK Rebecca Foulger gene: TBCK was added
gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy
Fetal anomalies v0.1 TBCE Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE
Fetal anomalies v0.1 TBCE Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME for gene: TBCE
Fetal anomalies v0.1 TBCE Rebecca Foulger gene: TBCE was added
gene: TBCE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1
Fetal anomalies v0.1 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger Added phenotypes DOORS SYNDROME for gene: TBC1D24
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL for gene: TBC1D24
Fetal anomalies v0.1 TBC1D24 Rebecca Foulger gene: TBC1D24 was added
gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS
Fetal anomalies v0.1 TBC1D23 Rebecca Foulger gene: TBC1D23 was added
gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
Fetal anomalies v0.1 TBC1D20 Rebecca Foulger Source PAGE Additional Gene List was added to TBC1D20.
Added phenotypes Warburg micro syndrome 4 615663 for gene: TBC1D20
Fetal anomalies v0.1 TBC1D20 Rebecca Foulger gene: TBC1D20 was added
gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4
Fetal anomalies v0.1 TAZ Rebecca Foulger gene: TAZ was added
gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to BARTH SYNDROME
Fetal anomalies v0.1 TAT Rebecca Foulger gene: TAT was added
gene: TAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2
Fetal anomalies v0.1 TAPT1 Rebecca Foulger gene: TAPT1 was added
gene: TAPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.1 TANGO2 Rebecca Foulger gene: TANGO2 was added
gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Fetal anomalies v0.1 TAF13 Rebecca Foulger gene: TAF13 was added
gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
Fetal anomalies v0.1 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Fetal anomalies v0.1 TACR3 Rebecca Foulger gene: TACR3 was added
gene: TACR3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TACO1 Rebecca Foulger gene: TACO1 was added
gene: TACO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 TAC3 Rebecca Foulger gene: TAC3 was added
gene: TAC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 TAB2 Rebecca Foulger gene: TAB2 was added
gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2
Fetal anomalies v0.1 SZT2 Rebecca Foulger gene: SZT2 was added
gene: SZT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Fetal anomalies v0.1 SYP Rebecca Foulger gene: SYP was added
gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED
Fetal anomalies v0.1 SYNGAP1 Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 for gene: SYNGAP1
Fetal anomalies v0.1 SYNGAP1 Rebecca Foulger gene: SYNGAP1 was added
gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SYNE1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 for gene: SYNE1
Fetal anomalies v0.1 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SYN1 Rebecca Foulger gene: SYN1 was added
gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Fetal anomalies v0.1 SURF1 Rebecca Foulger Added phenotypes COMPLEX IV DEFICIENCY for gene: SURF1
Fetal anomalies v0.1 SURF1 Rebecca Foulger gene: SURF1 was added
gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to LEIGH SYNDROME
Fetal anomalies v0.1 SUMF1 Rebecca Foulger gene: SUMF1 was added
gene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Fetal anomalies v0.1 SUFU Rebecca Foulger Added phenotypes Medulloblastoma, desmoplastic 155255 for gene: SUFU
Fetal anomalies v0.1 SUFU Rebecca Foulger Source PAGE Additional Gene List was added to SUFU.
Added phenotypes Basal cell nevus syndrome 109400 for gene: SUFU
Fetal anomalies v0.1 SUFU Rebecca Foulger gene: SUFU was added
gene: SUFU was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v0.1 SUCLG1 Rebecca Foulger gene: SUCLG1 was added
gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS
Fetal anomalies v0.1 STXBP1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 for gene: STXBP1
Fetal anomalies v0.1 STXBP1 Rebecca Foulger gene: STXBP1 was added
gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
Fetal anomalies v0.1 STX1B Rebecca Foulger gene: STX1B was added
gene: STX1B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Fetal anomalies v0.1 STS Rebecca Foulger gene: STS was added
gene: STS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED
Fetal anomalies v0.1 STRA6 Rebecca Foulger gene: STRA6 was added
gene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9
Fetal anomalies v0.1 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7
Fetal anomalies v0.1 STAT5B Rebecca Foulger gene: STAT5B was added
gene: STAT5B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Fetal anomalies v0.1 STAT1 Rebecca Foulger Added phenotypes FAMILIAL CANDIDIASIS TYPE 7 for gene: STAT1
Fetal anomalies v0.1 STAT1 Rebecca Foulger Added phenotypes MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE for gene: STAT1
Fetal anomalies v0.1 STAT1 Rebecca Foulger gene: STAT1 was added
gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE
Fetal anomalies v0.1 STAR Rebecca Foulger gene: STAR was added
gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA
Fetal anomalies v0.1 STAMBP Rebecca Foulger gene: STAMBP was added
gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
Fetal anomalies v0.1 STAG1 Rebecca Foulger gene: STAG1 was added
gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability
Fetal anomalies v0.1 ST3GAL5 Rebecca Foulger gene: ST3GAL5 was added
gene: ST3GAL5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME
Fetal anomalies v0.1 ST3GAL3 Rebecca Foulger gene: ST3GAL3 was added
gene: ST3GAL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.1 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS
Fetal anomalies v0.1 SRY Rebecca Foulger gene: SRY was added
gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1
Fetal anomalies v0.1 SRP54 Rebecca Foulger gene: SRP54 was added
gene: SRP54 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Fetal anomalies v0.1 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SRD5A2 Rebecca Foulger gene: SRD5A2 was added
gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600
Fetal anomalies v0.1 SRCAP Rebecca Foulger gene: SRCAP was added
gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME
Fetal anomalies v0.1 SPTLC2 Rebecca Foulger gene: SPTLC2 was added
gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.1 SPTAN1 Rebecca Foulger gene: SPTAN1 was added
gene: SPTAN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
Fetal anomalies v0.1 SPRY4 Rebecca Foulger gene: SPRY4 was added
gene: SPRY4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SPRY4 was set to Unknown
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Fetal anomalies v0.1 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME
Fetal anomalies v0.1 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Fetal anomalies v0.1 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11
Fetal anomalies v0.1 SPEG Rebecca Foulger gene: SPEG was added
gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY
Fetal anomalies v0.1 SPECC1L Rebecca Foulger gene: SPECC1L was added
gene: SPECC1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1
Fetal anomalies v0.1 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 SPARC Rebecca Foulger gene: SPARC was added
gene: SPARC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII
Fetal anomalies v0.1 SPAG1 Rebecca Foulger gene: SPAG1 was added
gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
Fetal anomalies v0.1 SP110 Rebecca Foulger gene: SP110 was added
gene: SP110 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550
Fetal anomalies v0.1 SOX9 Rebecca Foulger Added phenotypes CAMPOMELIC DYSPLASIA for gene: SOX9
Fetal anomalies v0.1 SOX9 Rebecca Foulger gene: SOX9 was added
gene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE
Fetal anomalies v0.1 SOX5 Rebecca Foulger gene: SOX5 was added
gene: SOX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SOX3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY for gene: SOX3
Fetal anomalies v0.1 SOX3 Rebecca Foulger gene: SOX3 was added
gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3
Fetal anomalies v0.1 SOX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA SYNDROMIC TYPE 3 for gene: SOX2
Fetal anomalies v0.1 SOX2 Rebecca Foulger gene: SOX2 was added
gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to AEG SYNDROME
Fetal anomalies v0.1 SOX17 Rebecca Foulger gene: SOX17 was added
gene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3
Fetal anomalies v0.1 SOX11 Rebecca Foulger gene: SOX11 was added
gene: SOX11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes KALLMANN SYNDROME WITH DEAFNESS for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger Added phenotypes YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME for gene: SOX10
Fetal anomalies v0.1 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
Fetal anomalies v0.1 SOST Rebecca Foulger gene: SOST was added
gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860
Fetal anomalies v0.1 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4
Fetal anomalies v0.1 SON Rebecca Foulger gene: SON was added
gene: SON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive
Fetal anomalies v0.1 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 SNRPE Rebecca Foulger gene: SNRPE was added
gene: SNRPE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Fetal anomalies v0.1 SNRPB Rebecca Foulger gene: SNRPB was added
gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
Fetal anomalies v0.1 SNORD118 Rebecca Foulger gene: SNORD118 was added
gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts
Fetal anomalies v0.1 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME
Fetal anomalies v0.1 SNAP25 Rebecca Foulger gene: SNAP25 was added
gene: SNAP25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 SMS Rebecca Foulger gene: SMS was added
gene: SMS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME
Fetal anomalies v0.1 SMPD1 Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B for gene: SMPD1
Fetal anomalies v0.1 SMPD1 Rebecca Foulger gene: SMPD1 was added
gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A
Fetal anomalies v0.1 SMOC2 Rebecca Foulger gene: SMOC2 was added
gene: SMOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH
Fetal anomalies v0.1 SMOC1 Rebecca Foulger gene: SMOC1 was added
gene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME
Fetal anomalies v0.1 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMO were set to Curry-Jones Syndrome
Fetal anomalies v0.1 SMN1 Rebecca Foulger gene: SMN1 was added
gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300
Fetal anomalies v0.1 SMG9 Rebecca Foulger gene: SMG9 was added
gene: SMG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome
Fetal anomalies v0.1 SMCHD1 Rebecca Foulger gene: SMCHD1 was added
gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Fetal anomalies v0.1 SMC3 Rebecca Foulger gene: SMC3 was added
gene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3
Fetal anomalies v0.1 SMC1A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: SMC1A
Fetal anomalies v0.1 SMC1A Rebecca Foulger gene: SMC1A was added
gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2
Fetal anomalies v0.1 SMARCE1 Rebecca Foulger gene: SMARCE1 was added
gene: SMARCE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCB1 Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME for gene: SMARCB1
Fetal anomalies v0.1 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1
Fetal anomalies v0.1 SMARCAL1 Rebecca Foulger gene: SMARCAL1 was added
gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Fetal anomalies v0.1 SMARCA4 Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 for gene: SMARCA4
Fetal anomalies v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMARCA2 Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME for gene: SMARCA2
Fetal anomalies v0.1 SMARCA2 Rebecca Foulger gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS
Fetal anomalies v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS SYNDROME for gene: SMAD4
Fetal anomalies v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME for gene: SMAD4
Fetal anomalies v0.1 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME
Fetal anomalies v0.1 SMAD3 Rebecca Foulger gene: SMAD3 was added
gene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME
Fetal anomalies v0.1 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P
Fetal anomalies v0.1 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
Fetal anomalies v0.1 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
Fetal anomalies v0.1 SLC6A8 Rebecca Foulger gene: SLC6A8 was added
gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME
Fetal anomalies v0.1 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA
Fetal anomalies v0.1 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE
Fetal anomalies v0.1 SLC6A17 Rebecca Foulger gene: SLC6A17 was added
gene: SLC6A17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Fetal anomalies v0.1 SLC6A1 Rebecca Foulger gene: SLC6A1 was added
gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Fetal anomalies v0.1 SLC5A7 Rebecca Foulger gene: SLC5A7 was added
gene: SLC5A7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea
Fetal anomalies v0.1 SLC5A5 Rebecca Foulger gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I
Fetal anomalies v0.1 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME
Fetal anomalies v0.1 SLC4A4 Rebecca Foulger gene: SLC4A4 was added
gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Fetal anomalies v0.1 SLC4A11 Rebecca Foulger gene: SLC4A11 was added
gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Fetal anomalies v0.1 SLC4A1 Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR for gene: SLC4A1
Fetal anomalies v0.1 SLC4A1 Rebecca Foulger gene: SLC4A1 was added
gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD
Fetal anomalies v0.1 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION
Fetal anomalies v0.1 SLC45A1 Rebecca Foulger gene: SLC45A1 was added
gene: SLC45A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy
Fetal anomalies v0.1 SLC39A8 Rebecca Foulger gene: SLC39A8 was added
gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Fetal anomalies v0.1 SLC39A13 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA for gene: SLC39A13
Fetal anomalies v0.1 SLC39A13 Rebecca Foulger gene: SLC39A13 was added
gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION
Fetal anomalies v0.1 SLC37A4 Rebecca Foulger gene: SLC37A4 was added
gene: SLC37A4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220
Fetal anomalies v0.1 SLC35D1 Rebecca Foulger gene: SLC35D1 was added
gene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA
Fetal anomalies v0.1 SLC35C1 Rebecca Foulger gene: SLC35C1 was added
gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C
Fetal anomalies v0.1 SLC35A2 Rebecca Foulger gene: SLC35A2 was added
gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION
Fetal anomalies v0.1 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Fetal anomalies v0.1 SLC2A2 Rebecca Foulger gene: SLC2A2 was added
gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME
Fetal anomalies v0.1 SLC2A10 Rebecca Foulger gene: SLC2A10 was added
gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME
Fetal anomalies v0.1 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 for gene: SLC2A1
Fetal anomalies v0.1 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1
Fetal anomalies v0.1 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME
Fetal anomalies v0.1 SLC26A3 Rebecca Foulger gene: SLC26A3 was added
gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 for gene: SLC26A2
Fetal anomalies v0.1 SLC26A2 Rebecca Foulger gene: SLC26A2 was added
gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B
Fetal anomalies v0.1 SLC25A4 Rebecca Foulger gene: SLC25A4 was added
gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.1 SLC25A38 Rebecca Foulger gene: SLC25A38 was added
gene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 SLC25A26 Rebecca Foulger gene: SLC25A26 was added
gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Fetal anomalies v0.1 SLC25A24 Rebecca Foulger gene: SLC25A24 was added
gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v0.1 SLC25A22 Rebecca Foulger gene: SLC25A22 was added
gene: SLC25A22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Fetal anomalies v0.1 SLC25A20 Rebecca Foulger gene: SLC25A20 was added
gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Fetal anomalies v0.1 SLC25A19 Rebecca Foulger gene: SLC25A19 was added
gene: SLC25A19 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY
Fetal anomalies v0.1 SLC25A15 Rebecca Foulger gene: SLC25A15 was added
gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Fetal anomalies v0.1 SLC24A4 Rebecca Foulger gene: SLC24A4 was added
gene: SLC24A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.
Fetal anomalies v0.1 SLC22A5 Rebecca Foulger gene: SLC22A5 was added
gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY
Fetal anomalies v0.1 SLC1A2 Rebecca Foulger gene: SLC1A2 was added
gene: SLC1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
Fetal anomalies v0.1 SLC17A5 Rebecca Foulger Added phenotypes INFANTILE SIALIC ACID STORAGE DISORDER for gene: SLC17A5
Fetal anomalies v0.1 SLC17A5 Rebecca Foulger gene: SLC17A5 was added
gene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to SALLA DISEASE
Fetal anomalies v0.1 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
Fetal anomalies v0.1 SLC13A5 Rebecca Foulger gene: SLC13A5 was added
gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
Fetal anomalies v0.1 SLC12A6 Rebecca Foulger gene: SLC12A6 was added
gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
Fetal anomalies v0.1 SLC12A1 Rebecca Foulger gene: SLC12A1 was added
gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678
Fetal anomalies v0.1 SKIV2L Rebecca Foulger gene: SKIV2L was added
gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2
Fetal anomalies v0.1 SKI Rebecca Foulger gene: SKI was added
gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Fetal anomalies v0.1 SIX5 Rebecca Foulger gene: SIX5 was added
gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2
Fetal anomalies v0.1 SIX3 Rebecca Foulger gene: SIX3 was added
gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY
Fetal anomalies v0.1 SIX1 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 23 for gene: SIX1
Fetal anomalies v0.1 SIX1 Rebecca Foulger gene: SIX1 was added
gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3
Fetal anomalies v0.1 SIN3A Rebecca Foulger gene: SIN3A was added
gene: SIN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME
Fetal anomalies v0.1 SIK1 Rebecca Foulger gene: SIK1 was added
gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM
Fetal anomalies v0.1 SHROOM3 Rebecca Foulger gene: SHROOM3 was added
gene: SHROOM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT
Fetal anomalies v0.1 SHOX Rebecca Foulger Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS for gene: SHOX
Fetal anomalies v0.1 SHOX Rebecca Foulger gene: SHOX was added
gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA
Fetal anomalies v0.1 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes HOLOPROSENCEPHALY TYPE 3 for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 for gene: SHH
Fetal anomalies v0.1 SHH Rebecca Foulger gene: SHH was added
gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME
Fetal anomalies v0.1 SHANK3 Rebecca Foulger gene: SHANK3 was added
gene: SHANK3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME
Fetal anomalies v0.1 SHANK2 Rebecca Foulger gene: SHANK2 was added
gene: SHANK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17
Fetal anomalies v0.1 SHANK1 Rebecca Foulger gene: SHANK1 was added
gene: SHANK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK1 were set to AUTISM
Fetal anomalies v0.1 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME
Fetal anomalies v0.1 SGSH Rebecca Foulger gene: SGSH was added
gene: SGSH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A
Fetal anomalies v0.1 SGCA Rebecca Foulger gene: SGCA was added
gene: SGCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099
Fetal anomalies v0.1 SF3B4 Rebecca Foulger gene: SF3B4 was added
gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
Fetal anomalies v0.1 SETD5 Rebecca Foulger gene: SETD5 was added
gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
Fetal anomalies v0.1 SETD2 Rebecca Foulger gene: SETD2 was added
gene: SETD2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome
Fetal anomalies v0.1 SETD1A Rebecca Foulger gene: SETD1A was added
gene: SETD1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 SETBP1 Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1
Fetal anomalies v0.1 SETBP1 Rebecca Foulger gene: SETBP1 was added
gene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Fetal anomalies v0.1 SET Rebecca Foulger gene: SET was added
gene: SET was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SET were set to SET syndrome
Fetal anomalies v0.1 SELENON Rebecca Foulger gene: SELENON was added
gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771
Fetal anomalies v0.1 SECISBP2 Rebecca Foulger gene: SECISBP2 was added
gene: SECISBP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL
Fetal anomalies v0.1 SEC24D Rebecca Foulger gene: SEC24D was added
gene: SEC24D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.1 SEC23B Rebecca Foulger gene: SEC23B was added
gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Fetal anomalies v0.1 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY
Fetal anomalies v0.1 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to LEIGH SYNDROME
Fetal anomalies v0.1 SDCCAG8 Rebecca Foulger gene: SDCCAG8 was added
gene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7
Fetal anomalies v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Fetal anomalies v0.1 SCO2 Rebecca Foulger gene: SCO2 was added
gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.1 SCO1 Rebecca Foulger gene: SCO1 was added
gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 SCN8A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 for gene: SCN8A
Fetal anomalies v0.1 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Fetal anomalies v0.1 SCN4A Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG for gene: SCN4A
Fetal anomalies v0.1 SCN4A Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 for gene: SCN4A
Fetal anomalies v0.1 SCN4A Rebecca Foulger gene: SCN4A was added
gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS
Fetal anomalies v0.1 SCN3A Rebecca Foulger gene: SCN3A was added
gene: SCN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN3A were set to Focal epilepsy
Fetal anomalies v0.1 SCN2A Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A
Fetal anomalies v0.1 SCN2A Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES for gene: SCN2A
Fetal anomalies v0.1 SCN2A Rebecca Foulger gene: SCN2A was added
gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.1 SCN1B Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 for gene: SCN1B
Fetal anomalies v0.1 SCN1B Rebecca Foulger gene: SCN1B was added
gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1
Fetal anomalies v0.1 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS
Fetal anomalies v0.1 SCN11A Rebecca Foulger gene: SCN11A was added
gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN
Fetal anomalies v0.1 SCARF2 Rebecca Foulger gene: SCARF2 was added
gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME
Fetal anomalies v0.1 SC5D Rebecca Foulger gene: SC5D was added
gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS
Fetal anomalies v0.1 SBDS Rebecca Foulger gene: SBDS was added
gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME
Fetal anomalies v0.1 SATB2 Rebecca Foulger Added phenotypes NONSPECIFIC SEVERE ID for gene: SATB2
Fetal anomalies v0.1 SATB2 Rebecca Foulger Added phenotypes SYNDROMAL PIERRE ROBIN SEQUENCE for gene: SATB2
Fetal anomalies v0.1 SATB2 Rebecca Foulger gene: SATB2 was added
gene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED
Fetal anomalies v0.1 SASS6 Rebecca Foulger gene: SASS6 was added
gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 24951542
Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402
Fetal anomalies v0.1 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME
Fetal anomalies v0.1 SALL4 Rebecca Foulger Added phenotypes DUANE-RADIAL RAY SYNDROME for gene: SALL4
Fetal anomalies v0.1 SALL4 Rebecca Foulger gene: SALL4 was added
gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME
Fetal anomalies v0.1 SALL1 Rebecca Foulger gene: SALL1 was added
gene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME
Fetal anomalies v0.1 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Fetal anomalies v0.1 RYR1 Rebecca Foulger gene: RYR1 was added
gene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
Fetal anomalies v0.1 TMEM5 Rebecca Foulger gene: TMEM5 was added
gene: TMEM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY
Fetal anomalies v0.1 RUNX2 Rebecca Foulger gene: RUNX2 was added
gene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA
Fetal anomalies v0.1 RTTN Rebecca Foulger gene: RTTN was added
gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA
Fetal anomalies v0.1 RTN4IP1 Rebecca Foulger gene: RTN4IP1 was added
gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Fetal anomalies v0.1 RTEL1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 for gene: RTEL1
Fetal anomalies v0.1 RTEL1 Rebecca Foulger gene: RTEL1 was added
gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Fetal anomalies v0.1 RSPRY1 Rebecca Foulger gene: RSPRY1 was added
gene: RSPRY1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
Fetal anomalies v0.1 RSPO4 Rebecca Foulger gene: RSPO4 was added
gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA
Fetal anomalies v0.1 RSPH9 Rebecca Foulger gene: RSPH9 was added
gene: RSPH9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650
Fetal anomalies v0.1 RSPH4A Rebecca Foulger gene: RSPH4A was added
gene: RSPH4A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649
Fetal anomalies v0.1 RSPH3 Rebecca Foulger gene: RSPH3 was added
gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Fetal anomalies v0.1 RSPH1 Rebecca Foulger gene: RSPH1 was added
gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Fetal anomalies v0.1 RRM2B Rebecca Foulger gene: RRM2B was added
gene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome
Fetal anomalies v0.1 RRAS Rebecca Foulger gene: RRAS was added
gene: RRAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME
Fetal anomalies v0.1 RPS6KA3 Rebecca Foulger Added phenotypes COFFIN-LOWRY SYNDROME for gene: RPS6KA3
Fetal anomalies v0.1 RPS6KA3 Rebecca Foulger gene: RPS6KA3 was added
gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME
Fetal anomalies v0.1 RPS26 Rebecca Foulger gene: RPS26 was added
gene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309
Fetal anomalies v0.1 RPS24 Rebecca Foulger gene: RPS24 was added
gene: RPS24 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3 610629
Fetal anomalies v0.1 RPS23 Rebecca Foulger gene: RPS23 was added
gene: RPS23 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Fetal anomalies v0.1 RPS19 Rebecca Foulger gene: RPS19 was added
gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Fetal anomalies v0.1 RPS17 Rebecca Foulger gene: RPS17 was added
gene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527
Fetal anomalies v0.1 RPS10 Rebecca Foulger gene: RPS10 was added
gene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308
Fetal anomalies v0.1 RPL5 Rebecca Foulger gene: RPL5 was added
gene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561
Fetal anomalies v0.1 RPL35A Rebecca Foulger gene: RPL35A was added
gene: RPL35A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5 612528
Fetal anomalies v0.1 RPL11 Rebecca Foulger Source PAGE Additional Gene List was added to RPL11.
Added phenotypes Diamond-Blackfan anemia 7 612562 for gene: RPL11
Fetal anomalies v0.1 RPL11 Rebecca Foulger gene: RPL11 was added
gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 7 for gene: RPGRIP1L
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 5 for gene: RPGRIP1L
Fetal anomalies v0.1 RPGRIP1L Rebecca Foulger gene: RPGRIP1L was added
gene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME
Fetal anomalies v0.1 RPGRIP1 Rebecca Foulger Added phenotypes CONE-ROD DYSTROPHY 13 for gene: RPGRIP1
Fetal anomalies v0.1 RPGRIP1 Rebecca Foulger gene: RPGRIP1 was added
gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6
Fetal anomalies v0.1 RPE65 Rebecca Foulger gene: RPE65 was added
gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 RORA Rebecca Foulger gene: RORA was added
gene: RORA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 ROR2 Rebecca Foulger Added phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT for gene: ROR2
Fetal anomalies v0.1 ROR2 Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE B1 for gene: ROR2
Fetal anomalies v0.1 ROR2 Rebecca Foulger gene: ROR2 was added
gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR
Fetal anomalies v0.1 ROGDI Rebecca Foulger gene: ROGDI was added
gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME
Fetal anomalies v0.1 ROBO1 Rebecca Foulger gene: ROBO1 was added
gene: ROBO1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO1 were set to 28592524; 28485101
Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects
Fetal anomalies v0.1 RNU4ATAC Rebecca Foulger gene: RNU4ATAC was added
gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Fetal anomalies v0.1 RNASET2 Rebecca Foulger gene: RNASET2 was added
gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
Fetal anomalies v0.1 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3
Fetal anomalies v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2
Fetal anomalies v0.1 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4
Fetal anomalies v0.1 RMRP Rebecca Foulger gene: RMRP was added
gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA
Fetal anomalies v0.1 RMND1 Rebecca Foulger gene: RMND1 was added
gene: RMND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT
Fetal anomalies v0.1 RLIM Rebecca Foulger gene: RLIM was added
gene: RLIM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8
Fetal anomalies v0.1 RIPK4 Rebecca Foulger gene: RIPK4 was added
gene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Fetal anomalies v0.1 RIN2 Rebecca Foulger gene: RIN2 was added
gene: RIN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Fetal anomalies v0.1 RFX6 Rebecca Foulger gene: RFX6 was added
gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME
Fetal anomalies v0.1 RFT1 Rebecca Foulger gene: RFT1 was added
gene: RFT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N
Fetal anomalies v0.1 RETREG1 Rebecca Foulger gene: RETREG1 was added
gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Fetal anomalies v0.1 RET Rebecca Foulger Added phenotypes MULTIPLE ENDOCRINE NEOPLASIA IIB for gene: RET
Fetal anomalies v0.1 RET Rebecca Foulger gene: RET was added
gene: RET was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to RENAL AGENESIS
Fetal anomalies v0.1 RERE Rebecca Foulger gene: RERE was added
gene: RERE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions
Fetal anomalies v0.1 REN Rebecca Foulger gene: REN was added
gene: REN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.1 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to LISSENCEPHALY 2
Fetal anomalies v0.1 RECQL4 Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME for gene: RECQL4
Fetal anomalies v0.1 RECQL4 Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME for gene: RECQL4
Fetal anomalies v0.1 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME
Fetal anomalies v0.1 RBPJ Rebecca Foulger gene: RBPJ was added
gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.1 RBM8A Rebecca Foulger gene: RBM8A was added
gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
Fetal anomalies v0.1 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP SYNDROME
Fetal anomalies v0.1 RAX Rebecca Foulger gene: RAX was added
gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3
Fetal anomalies v0.1 RASA1 Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION for gene: RASA1
Fetal anomalies v0.1 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME
Fetal anomalies v0.1 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6
Fetal anomalies v0.1 RARB Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB
Fetal anomalies v0.1 RARB Rebecca Foulger gene: RARB was added
gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
Fetal anomalies v0.1 RAPSN Rebecca Foulger Added phenotypes FETAL AKINESIA DEFORMATION SEQUENCE for gene: RAPSN
Fetal anomalies v0.1 RAPSN Rebecca Foulger gene: RAPSN was added
gene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Fetal anomalies v0.1 RAI1 Rebecca Foulger gene: RAI1 was added
gene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME
Fetal anomalies v0.1 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5
Fetal anomalies v0.1 RAD51C Rebecca Foulger gene: RAD51C was added
gene: RAD51C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Fetal anomalies v0.1 RAD51 Rebecca Foulger gene: RAD51 was added
gene: RAD51 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2
Fetal anomalies v0.1 RAD21 Rebecca Foulger gene: RAD21 was added
gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAD21 were set to COHESINOPATHY
Fetal anomalies v0.1 RAC1 Rebecca Foulger gene: RAC1 was added
gene: RAC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes
Fetal anomalies v0.1 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME
Fetal anomalies v0.1 RAB3GAP1 Rebecca Foulger gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1
Fetal anomalies v0.1 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS
Fetal anomalies v0.1 RAB23 Rebecca Foulger gene: RAB23 was added
gene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Fetal anomalies v0.1 RAB18 Rebecca Foulger gene: RAB18 was added
gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3
Fetal anomalies v0.1 RAB11B Rebecca Foulger gene: RAB11B was added
gene: RAB11B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 RAB11A Rebecca Foulger gene: RAB11A was added
gene: RAB11A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 QRICH1 Rebecca Foulger gene: QRICH1 was added
gene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: QRICH1 were set to QRICH1 syndrome
Fetal anomalies v0.1 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Fetal anomalies v0.1 QARS Rebecca Foulger gene: QARS was added
gene: QARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY
Fetal anomalies v0.1 PYROXD1 Rebecca Foulger gene: PYROXD1 was added
gene: PYROXD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Fetal anomalies v0.1 PYGL Rebecca Foulger gene: PYGL was added
gene: PYGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI
Fetal anomalies v0.1 PYCR2 Rebecca Foulger gene: PYCR2 was added
gene: PYCR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Fetal anomalies v0.1 PYCR1 Rebecca Foulger gene: PYCR1 was added
gene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
Fetal anomalies v0.1 PXDN Rebecca Foulger gene: PXDN was added
gene: PXDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
Fetal anomalies v0.1 PURA Rebecca Foulger gene: PURA was added
gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PUF60 Rebecca Foulger gene: PUF60 was added
gene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PUF60 were set to PUF60 syndrome
Fetal anomalies v0.1 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Fetal anomalies v0.1 PTPN14 Rebecca Foulger gene: PTPN14 was added
gene: PTPN14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA
Fetal anomalies v0.1 PTPN11 Rebecca Foulger Added phenotypes NOONAN SYNDROME 1 for gene: PTPN11
Fetal anomalies v0.1 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1
Fetal anomalies v0.1 PTHLH Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 for gene: PTHLH
Fetal anomalies v0.1 PTHLH Rebecca Foulger gene: PTHLH was added
gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA for gene: PTH1R
Fetal anomalies v0.1 PTH1R Rebecca Foulger gene: PTH1R was added
gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION
Fetal anomalies v0.1 PTH Rebecca Foulger gene: PTH was added
gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM
Fetal anomalies v0.1 PTF1A Rebecca Foulger Added phenotypes PANCREATIC AGENESIS for gene: PTF1A
Fetal anomalies v0.1 PTF1A Rebecca Foulger gene: PTF1A was added
gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes MACROCEPHALY/AUTISM SYNDROME for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes PROTEUS SYNDROME for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes LHERMITTE-DUCLOS DISEASE for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger Added phenotypes COWDEN DISEASE for gene: PTEN
Fetal anomalies v0.1 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME
Fetal anomalies v0.1 PTDSS1 Rebecca Foulger gene: PTDSS1 was added
gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
Fetal anomalies v0.1 PTCHD1 Rebecca Foulger gene: PTCHD1 was added
gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PTCHD1 were set to AUTISM/ID
Fetal anomalies v0.1 PTCH1 Rebecca Foulger Added phenotypes BASAL CELL NEVUS SYNDROME for gene: PTCH1
Fetal anomalies v0.1 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7
Fetal anomalies v0.1 PSPH Rebecca Foulger Added phenotypes NEU-LAXOVA for gene: PSPH
Fetal anomalies v0.1 PSPH Rebecca Foulger gene: PSPH was added
gene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Fetal anomalies v0.1 PSMB8 Rebecca Foulger gene: PSMB8 was added
gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME
Fetal anomalies v0.1 PSAT1 Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME for gene: PSAT1
Fetal anomalies v0.1 PSAT1 Rebecca Foulger gene: PSAT1 was added
gene: PSAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 PSAP Rebecca Foulger gene: PSAP was added
gene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE
Fetal anomalies v0.1 PRX Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: PRX
Fetal anomalies v0.1 PRX Rebecca Foulger gene: PRX was added
gene: PRX was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895
Fetal anomalies v0.1 PRUNE1 Rebecca Foulger gene: PRUNE1 was added
gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to PEHO Like condition
Fetal anomalies v0.1 PRSS56 Rebecca Foulger gene: PRSS56 was added
gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6
Fetal anomalies v0.1 PRSS12 Rebecca Foulger gene: PRSS12 was added
gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
Fetal anomalies v0.1 PRRT2 Rebecca Foulger Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME for gene: PRRT2
Fetal anomalies v0.1 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes ARTS SYNDROME for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger Added phenotypes DEAFNESS X-LINKED TYPE 1 for gene: PRPS1
Fetal anomalies v0.1 PRPS1 Rebecca Foulger gene: PRPS1 was added
gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
Fetal anomalies v0.1 PROP1 Rebecca Foulger gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PROKR2 Rebecca Foulger gene: PROKR2 was added
gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Fetal anomalies v0.1 PROK2 Rebecca Foulger Added phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 for gene: PROK2
Fetal anomalies v0.1 PROK2 Rebecca Foulger gene: PROK2 was added
gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Fetal anomalies v0.1 PRMT7 Rebecca Foulger gene: PRMT7 was added
gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
Fetal anomalies v0.1 PRKD1 Rebecca Foulger gene: PRKD1 was added
gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Fetal anomalies v0.1 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS
Fetal anomalies v0.1 PRG4 Rebecca Foulger gene: PRG4 was added
gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250
Fetal anomalies v0.1 PREPL Rebecca Foulger gene: PREPL was added
gene: PREPL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME
Fetal anomalies v0.1 PRDM12 Rebecca Foulger gene: PRDM12 was added
gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Fetal anomalies v0.1 PQBP1 Rebecca Foulger gene: PQBP1 was added
gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1
Fetal anomalies v0.1 PPT1 Rebecca Foulger gene: PPT1 was added
gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
Fetal anomalies v0.1 PPP3CA Rebecca Foulger gene: PPP3CA was added
gene: PPP3CA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures
Fetal anomalies v0.1 PPP2R5D Rebecca Foulger gene: PPP2R5D was added
gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP2R1A Rebecca Foulger gene: PPP2R1A was added
gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PPP1CB Rebecca Foulger gene: PPP1CB was added
gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Fetal anomalies v0.1 PPM1D Rebecca Foulger gene: PPM1D was added
gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPM1D were set to PPM1D syndrome
Fetal anomalies v0.1 PPIB Rebecca Foulger gene: PPIB was added
gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440
Fetal anomalies v0.1 PPA2 Rebecca Foulger gene: PPA2 was added
gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Fetal anomalies v0.1 POU1F1 Rebecca Foulger gene: POU1F1 was added
gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA
Fetal anomalies v0.1 POR Rebecca Foulger Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 for gene: POR
Fetal anomalies v0.1 POR Rebecca Foulger gene: POR was added
gene: POR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
Fetal anomalies v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 for gene: POMT2
Fetal anomalies v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 for gene: POMT2
Fetal anomalies v0.1 POMT2 Rebecca Foulger gene: POMT2 was added
gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2
Fetal anomalies v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 for gene: POMT1
Fetal anomalies v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 for gene: POMT1
Fetal anomalies v0.1 POMT1 Rebecca Foulger gene: POMT1 was added
gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1
Fetal anomalies v0.1 POMK Rebecca Foulger gene: POMK was added
gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249
Fetal anomalies v0.1 POMGNT2 Rebecca Foulger gene: POMGNT2 was added
gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 for gene: POMGNT1
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 for gene: POMGNT1
Fetal anomalies v0.1 POMGNT1 Rebecca Foulger gene: POMGNT1 was added
gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3
Fetal anomalies v0.1 POLR3B Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B
Fetal anomalies v0.1 POLR3B Rebecca Foulger gene: POLR3B was added
gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.1 POLR1D Rebecca Foulger gene: POLR1D was added
gene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2
Fetal anomalies v0.1 POLR1C Rebecca Foulger gene: POLR1C was added
gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3
Fetal anomalies v0.1 POLR1A Rebecca Foulger gene: POLR1A was added
gene: POLR1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Fetal anomalies v0.1 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A
Fetal anomalies v0.1 POLD1 Rebecca Foulger gene: POLD1 was added
gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.1 POGZ Rebecca Foulger gene: POGZ was added
gene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 POC1B Rebecca Foulger gene: POC1B was added
gene: POC1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Fetal anomalies v0.1 POC1A Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM for gene: POC1A
Fetal anomalies v0.1 POC1A Rebecca Foulger gene: POC1A was added
gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Fetal anomalies v0.1 PNPT1 Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1
Fetal anomalies v0.1 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER
Fetal anomalies v0.1 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS
Fetal anomalies v0.1 PNKP Rebecca Foulger Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 for gene: PNKP
Fetal anomalies v0.1 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
Fetal anomalies v0.1 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Roussy-Levy syndrome 180800 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Neuropathy, recurrent, with pressure palsies 162500 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Neuropathy, inflammatory demyelinating 139393 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 1E 118300 for gene: PMP22
Fetal anomalies v0.1 PMP22 Rebecca Foulger gene: PMP22 was added
gene: PMP22 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease, type 1A 118220
Fetal anomalies v0.1 PMM2 Rebecca Foulger gene: PMM2 was added
gene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 PLPBP Rebecca Foulger gene: PLPBP was added
gene: PLPBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy
Fetal anomalies v0.1 PLP1 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 for gene: PLP1
Fetal anomalies v0.1 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1
Fetal anomalies v0.1 PLOD2 Rebecca Foulger gene: PLOD2 was added
gene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2
Fetal anomalies v0.1 PLOD1 Rebecca Foulger gene: PLOD1 was added
gene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM
Fetal anomalies v0.1 PLK4 Rebecca Foulger gene: PLK4 was added
gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
Fetal anomalies v0.1 PLCE1 Rebecca Foulger gene: PLCE1 was added
gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3
Fetal anomalies v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 PLCB1 Rebecca Foulger gene: PLCB1 was added
gene: PLCB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Fetal anomalies v0.1 PLAA Rebecca Foulger gene: PLAA was added
gene: PLAA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy
Fetal anomalies v0.1 PLA2G6 Rebecca Foulger Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 for gene: PLA2G6
Fetal anomalies v0.1 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Fetal anomalies v0.1 PKLR Rebecca Foulger gene: PKLR was added
gene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200
Fetal anomalies v0.1 PKHD1 Rebecca Foulger gene: PKHD1 was added
gene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 PKD2 Rebecca Foulger gene: PKD2 was added
gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095
Fetal anomalies v0.1 PKD1L1 Rebecca Foulger gene: PKD1L1 was added
gene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Laterality defects
Fetal anomalies v0.1 PKD1 Rebecca Foulger gene: PKD1 was added
gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PKD1 were set to Polycystic kidney disease 173900
Fetal anomalies v0.1 PITX3 Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT for gene: PITX3
Fetal anomalies v0.1 PITX3 Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: PITX3
Fetal anomalies v0.1 PITX3 Rebecca Foulger gene: PITX3 was added
gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4
Fetal anomalies v0.1 PITX2 Rebecca Foulger Added phenotypes PETERS ANOMALY for gene: PITX2
Fetal anomalies v0.1 PITX2 Rebecca Foulger Added phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 for gene: PITX2
Fetal anomalies v0.1 PITX2 Rebecca Foulger Added phenotypes RING DERMOID OF CORNEA for gene: PITX2
Fetal anomalies v0.1 PITX2 Rebecca Foulger gene: PITX2 was added
gene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2
Fetal anomalies v0.1 PITX1 Rebecca Foulger Added phenotypes CONGENITAL CLUBFOOT for gene: PITX1
Fetal anomalies v0.1 PITX1 Rebecca Foulger gene: PITX1 was added
gene: PITX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
Fetal anomalies v0.1 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
Fetal anomalies v0.1 PIK3R1 Rebecca Foulger Added phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE for gene: PIK3R1
Fetal anomalies v0.1 PIK3R1 Rebecca Foulger gene: PIK3R1 was added
gene: PIK3R1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME
Fetal anomalies v0.1 PIK3CA Rebecca Foulger Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 for gene: PIK3CA
Fetal anomalies v0.1 PIK3CA Rebecca Foulger Added phenotypes HEMIMEGALENCEPHALY PIK3CA for gene: PIK3CA
Fetal anomalies v0.1 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Fetal anomalies v0.1 PIGY Rebecca Foulger gene: PIGY was added
gene: PIGY was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency
Fetal anomalies v0.1 PIGV Rebecca Foulger gene: PIGV was added
gene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION
Fetal anomalies v0.1 PIGT Rebecca Foulger gene: PIGT was added
gene: PIGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
Fetal anomalies v0.1 PIGO Rebecca Foulger gene: PIGO was added
gene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Fetal anomalies v0.1 PIGN Rebecca Foulger gene: PIGN was added
gene: PIGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME
Fetal anomalies v0.1 PIGL Rebecca Foulger gene: PIGL was added
gene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME
Fetal anomalies v0.1 PIGG Rebecca Foulger gene: PIGG was added
gene: PIGG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia
Fetal anomalies v0.1 PIGA Rebecca Foulger gene: PIGA was added
gene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Fetal anomalies v0.1 PIEZO2 Rebecca Foulger Added phenotypes Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception for gene: PIEZO2
Fetal anomalies v0.1 PIEZO2 Rebecca Foulger gene: PIEZO2 was added
gene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3
Fetal anomalies v0.1 PIEZO1 Rebecca Foulger Source PAGE Additional Gene List was added to PIEZO1.
Added phenotypes hydrops fetalis gene 616843 for gene: PIEZO1
Fetal anomalies v0.1 PIEZO1 Rebecca Foulger gene: PIEZO1 was added
gene: PIEZO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26333996
Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema
Fetal anomalies v0.1 PHOX2B Rebecca Foulger Added phenotypes NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE for gene: PHOX2B
Fetal anomalies v0.1 PHOX2B Rebecca Foulger gene: PHOX2B was added
gene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Fetal anomalies v0.1 PHIP Rebecca Foulger gene: PHIP was added
gene: PHIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features
Fetal anomalies v0.1 PHGDH Rebecca Foulger Added phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY for gene: PHGDH
Fetal anomalies v0.1 PHGDH Rebecca Foulger gene: PHGDH was added
gene: PHGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME
Fetal anomalies v0.1 PHF8 Rebecca Foulger gene: PHF8 was added
gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Fetal anomalies v0.1 PHF6 Rebecca Foulger gene: PHF6 was added
gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME
Fetal anomalies v0.1 PHF21A Rebecca Foulger gene: PHF21A was added
gene: PHF21A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME
Fetal anomalies v0.1 PGM3 Rebecca Foulger gene: PGM3 was added
gene: PGM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23
Fetal anomalies v0.1 PGM1 Rebecca Foulger gene: PGM1 was added
gene: PGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT
Fetal anomalies v0.1 PGK1 Rebecca Foulger gene: PGK1 was added
gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Fetal anomalies v0.1 PGAP3 Rebecca Foulger gene: PGAP3 was added
gene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Fetal anomalies v0.1 PGAP2 Rebecca Foulger gene: PGAP2 was added
gene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 PGAP1 Rebecca Foulger gene: PGAP1 was added
gene: PGAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation
Fetal anomalies v0.1 PEX7 Rebecca Foulger Added phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 for gene: PEX7
Fetal anomalies v0.1 PEX7 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 for gene: PEX7
Fetal anomalies v0.1 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to REFSUM DISEASE
Fetal anomalies v0.1 PEX6 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 for gene: PEX6
Fetal anomalies v0.1 PEX6 Rebecca Foulger gene: PEX6 was added
gene: PEX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX5 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX5
Fetal anomalies v0.1 PEX5 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX5
Fetal anomalies v0.1 PEX5 Rebecca Foulger gene: PEX5 was added
gene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX3 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX3
Fetal anomalies v0.1 PEX3 Rebecca Foulger gene: PEX3 was added
gene: PEX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12
Fetal anomalies v0.1 PEX26 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 for gene: PEX26
Fetal anomalies v0.1 PEX26 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL for gene: PEX26
Fetal anomalies v0.1 PEX26 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX26
Fetal anomalies v0.1 PEX26 Rebecca Foulger gene: PEX26 was added
gene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE
Fetal anomalies v0.1 PEX2 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 for gene: PEX2
Fetal anomalies v0.1 PEX2 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX2
Fetal anomalies v0.1 PEX2 Rebecca Foulger gene: PEX2 was added
gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX19 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 for gene: PEX19
Fetal anomalies v0.1 PEX19 Rebecca Foulger gene: PEX19 was added
gene: PEX19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX16 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX16
Fetal anomalies v0.1 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Fetal anomalies v0.1 PEX14 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K for gene: PEX14
Fetal anomalies v0.1 PEX14 Rebecca Foulger gene: PEX14 was added
gene: PEX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX13 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 for gene: PEX13
Fetal anomalies v0.1 PEX13 Rebecca Foulger gene: PEX13 was added
gene: PEX13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX12 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 for gene: PEX12
Fetal anomalies v0.1 PEX12 Rebecca Foulger gene: PEX12 was added
gene: PEX12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME
Fetal anomalies v0.1 PEX11B Rebecca Foulger gene: PEX11B was added
gene: PEX11B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B
Fetal anomalies v0.1 PEX10 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 for gene: PEX10
Fetal anomalies v0.1 PEX10 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME for gene: PEX10
Fetal anomalies v0.1 PEX10 Rebecca Foulger gene: PEX10 was added
gene: PEX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL
Fetal anomalies v0.1 PEX1 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX1
Fetal anomalies v0.1 PEX1 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL for gene: PEX1
Fetal anomalies v0.1 PEX1 Rebecca Foulger gene: PEX1 was added
gene: PEX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1
Fetal anomalies v0.1 PET100 Rebecca Foulger gene: PET100 was added
gene: PET100 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 PEPD Rebecca Foulger gene: PEPD was added
gene: PEPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY
Fetal anomalies v0.1 PDSS2 Rebecca Foulger gene: PDSS2 was added
gene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3
Fetal anomalies v0.1 PDSS1 Rebecca Foulger gene: PDSS1 was added
gene: PDSS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2
Fetal anomalies v0.1 PDHX Rebecca Foulger gene: PDHX was added
gene: PDHX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY
Fetal anomalies v0.1 PDHA1 Rebecca Foulger Added phenotypes INTELLECTUAL DISABILTIY for gene: PDHA1
Fetal anomalies v0.1 PDHA1 Rebecca Foulger Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES for gene: PDHA1
Fetal anomalies v0.1 PDHA1 Rebecca Foulger gene: PDHA1 was added
gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to X-LINKED LEIGH SYNDROME
Fetal anomalies v0.1 PDGFRB Rebecca Foulger Added phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE for gene: PDGFRB
Fetal anomalies v0.1 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS
Fetal anomalies v0.1 PDE6H Rebecca Foulger Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H for gene: PDE6H
Fetal anomalies v0.1 PDE6H Rebecca Foulger gene: PDE6H was added
gene: PDE6H was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to ACHROMATOPSIA
Fetal anomalies v0.1 PDE6G Rebecca Foulger gene: PDE6G was added
gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57
Fetal anomalies v0.1 PDE4D Rebecca Foulger gene: PDE4D was added
gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS
Fetal anomalies v0.1 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions
Fetal anomalies v0.1 PDCD10 Rebecca Foulger gene: PDCD10 was added
gene: PDCD10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3
Fetal anomalies v0.1 PCYT1A Rebecca Foulger gene: PCYT1A was added
gene: PCYT1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
Fetal anomalies v0.1 PCNT Rebecca Foulger gene: PCNT was added
gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Fetal anomalies v0.1 PCGF2 Rebecca Foulger gene: PCGF2 was added
gene: PCGF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY
Fetal anomalies v0.1 PCDH19 Rebecca Foulger gene: PCDH19 was added
gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCDH19 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: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
Fetal anomalies v0.1 PCCB Rebecca Foulger gene: PCCB was added
gene: PCCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.1 PCCA Rebecca Foulger gene: PCCA was added
gene: PCCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.1 PCBD1 Rebecca Foulger gene: PCBD1 was added
gene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
Fetal anomalies v0.1 C2orf71 Rebecca Foulger gene: C2orf71 was added
gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54
Fetal anomalies v0.1 PC Rebecca Foulger gene: PC was added
gene: PC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 PAX9 Rebecca Foulger gene: PAX9 was added
gene: PAX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3
Fetal anomalies v0.1 PAX8 Rebecca Foulger gene: PAX8 was added
gene: PAX8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes ANIRIDIA for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes BILATERAL OPTIC NERVE HYPOPLASIA for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes FOVEAL HYPOPLASIA for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes PETERS ANOMALY for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger Added phenotypes COLOBOMA OF OPTIC NERVE for gene: PAX6
Fetal anomalies v0.1 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY
Fetal anomalies v0.1 PAX3 Rebecca Foulger Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME for gene: PAX3
Fetal anomalies v0.1 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1
Fetal anomalies v0.1 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME
Fetal anomalies v0.1 PARN Rebecca Foulger gene: PARN was added
gene: PARN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
Fetal anomalies v0.1 PAPSS2 Rebecca Foulger gene: PAPSS2 was added
gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE
Fetal anomalies v0.1 PALB2 Rebecca Foulger gene: PALB2 was added
gene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N
Fetal anomalies v0.1 PAK3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 for gene: PAK3
Fetal anomalies v0.1 PAK3 Rebecca Foulger gene: PAK3 was added
gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM
Fetal anomalies v0.1 PAH Rebecca Foulger Added phenotypes PHENYLKETONURIA for gene: PAH
Fetal anomalies v0.1 PAH Rebecca Foulger gene: PAH was added
gene: PAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA
Fetal anomalies v0.1 PAFAH1B1 Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA for gene: PAFAH1B1
Fetal anomalies v0.1 PAFAH1B1 Rebecca Foulger gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1
Fetal anomalies v0.1 PACS1 Rebecca Foulger gene: PACS1 was added
gene: PACS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 P4HB Rebecca Foulger gene: P4HB was added
gene: P4HB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME
Fetal anomalies v0.1 P3H1 Rebecca Foulger gene: P3H1 was added
gene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII
Fetal anomalies v0.1 OXCT1 Rebecca Foulger gene: OXCT1 was added
gene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Fetal anomalies v0.1 OTX2 Rebecca Foulger gene: OTX2 was added
gene: OTX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5
Fetal anomalies v0.1 OTULIN Rebecca Foulger gene: OTULIN was added
gene: OTULIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome
Fetal anomalies v0.1 OTUD6B Rebecca Foulger gene: OTUD6B was added
gene: OTUD6B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Fetal anomalies v0.1 OTOGL Rebecca Foulger gene: OTOGL was added
gene: OTOGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS
Fetal anomalies v0.1 OTC Rebecca Foulger gene: OTC was added
gene: OTC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Fetal anomalies v0.1 OSTM1 Rebecca Foulger gene: OSTM1 was added
gene: OSTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis 259720
Fetal anomalies v0.1 OSGEP Rebecca Foulger gene: OSGEP was added
gene: OSGEP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly
Fetal anomalies v0.1 ORC6 Rebecca Foulger gene: ORC6 was added
gene: ORC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3
Fetal anomalies v0.1 ORC4 Rebecca Foulger gene: ORC4 was added
gene: ORC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2
Fetal anomalies v0.1 ORC1 Rebecca Foulger gene: ORC1 was added
gene: ORC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1
Fetal anomalies v0.1 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED
Fetal anomalies v0.1 OFD1 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 10 for gene: OFD1
Fetal anomalies v0.1 OFD1 Rebecca Foulger Added phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 for gene: OFD1
Fetal anomalies v0.1 OFD1 Rebecca Foulger gene: OFD1 was added
gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OFD1 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: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
Fetal anomalies v0.1 C4orf26 Rebecca Foulger gene: C4orf26 was added
gene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C4orf26 were set to AMYELOGENESIS
Fetal anomalies v0.1 OCRL Rebecca Foulger Added phenotypes DENT DISEASE TYPE 2 for gene: OCRL
Fetal anomalies v0.1 OCRL Rebecca Foulger gene: OCRL was added
gene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME
Fetal anomalies v0.1 OCLN Rebecca Foulger gene: OCLN was added
gene: OCLN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Fetal anomalies v0.1 OBSL1 Rebecca Foulger gene: OBSL1 was added
gene: OBSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2
Fetal anomalies v0.1 NYX Rebecca Foulger gene: NYX was added
gene: NYX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Fetal anomalies v0.1 NUS1 Rebecca Foulger gene: NUS1 was added
gene: NUS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 NUP62 Rebecca Foulger gene: NUP62 was added
gene: NUP62 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION
Fetal anomalies v0.1 NUP107 Rebecca Foulger gene: NUP107 was added
gene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.1 NUBPL Rebecca Foulger gene: NUBPL was added
gene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NTRK2 Rebecca Foulger gene: NTRK2 was added
gene: NTRK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 NTRK1 Rebecca Foulger gene: NTRK1 was added
gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Fetal anomalies v0.1 NT5C3A Rebecca Foulger gene: NT5C3A was added
gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Fetal anomalies v0.1 NT5C2 Rebecca Foulger gene: NT5C2 was added
gene: NT5C2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162
Fetal anomalies v0.1 NSUN2 Rebecca Foulger gene: NSUN2 was added
gene: NSUN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
Fetal anomalies v0.1 NSMF Rebecca Foulger gene: NSMF was added
gene: NSMF was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838
Fetal anomalies v0.1 NSDHL Rebecca Foulger Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS for gene: NSDHL
Fetal anomalies v0.1 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NSDHL 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: NSDHL were set to CK SYNDROME
Fetal anomalies v0.1 NSD1 Rebecca Foulger Added phenotypes SOTOS SYNDROME for gene: NSD1
Fetal anomalies v0.1 NSD1 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME for gene: NSD1
Fetal anomalies v0.1 NSD1 Rebecca Foulger gene: NSD1 was added
gene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were set to WEAVER SYNDROME
Fetal anomalies v0.1 NRXN2 Rebecca Foulger gene: NRXN2 was added
gene: NRXN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRXN2 were set to AUTISM
Fetal anomalies v0.1 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6
Fetal anomalies v0.1 NR5A1 Rebecca Foulger Added phenotypes SPERMATOGENIC FAILURE 8 for gene: NR5A1
Fetal anomalies v0.1 NR5A1 Rebecca Foulger gene: NR5A1 was added
gene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3
Fetal anomalies v0.1 NR2F2 Rebecca Foulger gene: NR2F2 was added
gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Fetal anomalies v0.1 NR2F1 Rebecca Foulger gene: NR2F1 was added
gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Fetal anomalies v0.1 NR0B1 Rebecca Foulger Added phenotypes Adrenal hypoplasia, congenital 300200 for gene: NR0B1
Fetal anomalies v0.1 NR0B1 Rebecca Foulger gene: NR0B1 was added
gene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: NR0B1 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: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018
Fetal anomalies v0.1 NPR2 Rebecca Foulger gene: NPR2 was added
gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Fetal anomalies v0.1 NPHS2 Rebecca Foulger gene: NPHS2 was added
gene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2
Fetal anomalies v0.1 NPHS1 Rebecca Foulger gene: NPHS1 was added
gene: NPHS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1
Fetal anomalies v0.1 NPHP4 Rebecca Foulger gene: NPHP4 was added
gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4
Fetal anomalies v0.1 NPHP3 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 3 for gene: NPHP3
Fetal anomalies v0.1 NPHP3 Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA for gene: NPHP3
Fetal anomalies v0.1 NPHP3 Rebecca Foulger gene: NPHP3 was added
gene: NPHP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7
Fetal anomalies v0.1 NPHP1 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 4 for gene: NPHP1
Fetal anomalies v0.1 NPHP1 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 1 for gene: NPHP1
Fetal anomalies v0.1 NPHP1 Rebecca Foulger gene: NPHP1 was added
gene: NPHP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1
Fetal anomalies v0.1 NPC2 Rebecca Foulger gene: NPC2 was added
gene: NPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2
Fetal anomalies v0.1 NPC1 Rebecca Foulger gene: NPC1 was added
gene: NPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1
Fetal anomalies v0.1 NOVA2 Rebecca Foulger gene: NOVA2 was added
gene: NOVA2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity
Fetal anomalies v0.1 NOTCH2 Rebecca Foulger gene: NOTCH2 was added
gene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME
Fetal anomalies v0.1 NOTCH1 Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1
Fetal anomalies v0.1 NOTCH1 Rebecca Foulger gene: NOTCH1 was added
gene: NOTCH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION
Fetal anomalies v0.1 NONO Rebecca Foulger gene: NONO was added
gene: NONO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 NOG Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE B2 for gene: NOG
Fetal anomalies v0.1 NOG Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME for gene: NOG
Fetal anomalies v0.1 NOG Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 1 for gene: NOG
Fetal anomalies v0.1 NOG Rebecca Foulger Added phenotypes STAPES ANKYLOSIS WITH BROAD THUMB AND TOES for gene: NOG
Fetal anomalies v0.1 NOG Rebecca Foulger gene: NOG was added
gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME
Fetal anomalies v0.1 NODAL Rebecca Foulger gene: NODAL was added
gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME
Fetal anomalies v0.1 NMNAT1 Rebecca Foulger gene: NMNAT1 was added
gene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination
Fetal anomalies v0.1 NKX3-2 Rebecca Foulger gene: NKX3-2 was added
gene: NKX3-2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
Fetal anomalies v0.1 NKX2-5 Rebecca Foulger Added phenotypes CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 for gene: NKX2-5
Fetal anomalies v0.1 NKX2-5 Rebecca Foulger Added phenotypes TETRALOGY OF FALLOT for gene: NKX2-5
Fetal anomalies v0.1 NKX2-5 Rebecca Foulger gene: NKX2-5 was added
gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
Fetal anomalies v0.1 NKX2-1 Rebecca Foulger Added phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS for gene: NKX2-1
Fetal anomalies v0.1 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA
Fetal anomalies v0.1 NIPBL Rebecca Foulger gene: NIPBL was added
gene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1
Fetal anomalies v0.1 NHS Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED for gene: NHS
Fetal anomalies v0.1 NHS Rebecca Foulger gene: NHS was added
gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME
Fetal anomalies v0.1 NHP2 Rebecca Foulger gene: NHP2 was added
gene: NHP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.1 NHEJ1 Rebecca Foulger gene: NHEJ1 was added
gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291
Fetal anomalies v0.1 NGLY1 Rebecca Foulger gene: NGLY1 was added
gene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION
Fetal anomalies v0.1 NFU1 Rebecca Foulger gene: NFU1 was added
gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Fetal anomalies v0.1 NFIX Rebecca Foulger Added phenotypes MARSHALL-SMITH SYNDROME for gene: NFIX
Fetal anomalies v0.1 NFIX Rebecca Foulger gene: NFIX was added
gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes FAMILIAL SPINAL NEUROFIBROMATOSIS for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes WATSON SYNDROME for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger Added phenotypes NEUROFIBROMATOSIS TYPE 1 for gene: NF1
Fetal anomalies v0.1 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME
Fetal anomalies v0.1 NEXMIF Rebecca Foulger Added phenotypes Intellectual disability and epilepsy for gene: NEXMIF
Fetal anomalies v0.1 NEXMIF Rebecca Foulger gene: NEXMIF was added
gene: NEXMIF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEXMIF 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: NEXMIF were set to KIAA2022
Fetal anomalies v0.1 NEU1 Rebecca Foulger gene: NEU1 was added
gene: NEU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to SIALIDOSIS
Fetal anomalies v0.1 NEK9 Rebecca Foulger gene: NEK9 was added
gene: NEK9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10 617022
Fetal anomalies v0.1 NEK8 Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 for gene: NEK8
Fetal anomalies v0.1 NEK8 Rebecca Foulger gene: NEK8 was added
gene: NEK8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9
Fetal anomalies v0.1 NEK1 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II for gene: NEK1
Fetal anomalies v0.1 NEK1 Rebecca Foulger gene: NEK1 was added
gene: NEK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II
Fetal anomalies v0.1 NEDD4L Rebecca Foulger gene: NEDD4L was added
gene: NEDD4L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Fetal anomalies v0.1 NECTIN4 Rebecca Foulger gene: NECTIN4 was added
gene: NECTIN4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Fetal anomalies v0.1 NEB Rebecca Foulger gene: NEB was added
gene: NEB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY
Fetal anomalies v0.1 NDUFV1 Rebecca Foulger gene: NDUFV1 was added
gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS8 Rebecca Foulger gene: NDUFS8 was added
gene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS7 Rebecca Foulger gene: NDUFS7 was added
gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS4 Rebecca Foulger Added phenotypes LEIGH SYNDROME DUP for gene: NDUFS4
Fetal anomalies v0.1 NDUFS4 Rebecca Foulger Added phenotypes LEIGH SYNDROME for gene: NDUFS4
Fetal anomalies v0.1 NDUFS4 Rebecca Foulger gene: NDUFS4 was added
gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDUFS1 Rebecca Foulger Added phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY for gene: NDUFS1
Fetal anomalies v0.1 NDUFS1 Rebecca Foulger gene: NDUFS1 was added
gene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME
Fetal anomalies v0.1 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Fetal anomalies v0.1 NDUFAF2 Rebecca Foulger gene: NDUFAF2 was added
gene: NDUFAF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME
Fetal anomalies v0.1 NDUFA10 Rebecca Foulger gene: NDUFA10 was added
gene: NDUFA10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP
Fetal anomalies v0.1 NDUFA1 Rebecca Foulger gene: NDUFA1 was added
gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.1 NDP Rebecca Foulger gene: NDP was added
gene: NDP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to NORRIE DISEASE
Fetal anomalies v0.1 NDE1 Rebecca Foulger gene: NDE1 was added
gene: NDE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4
Fetal anomalies v0.1 NBN Rebecca Foulger gene: NBN was added
gene: NBN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME
Fetal anomalies v0.1 NBAS Rebecca Foulger gene: NBAS was added
gene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
Fetal anomalies v0.1 NAXE Rebecca Foulger gene: NAXE was added
gene: NAXE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood
Fetal anomalies v0.1 NANS Rebecca Foulger gene: NANS was added
gene: NANS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia
Fetal anomalies v0.1 NALCN Rebecca Foulger Added phenotypes SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY for gene: NALCN
Fetal anomalies v0.1 NALCN Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES for gene: NALCN
Fetal anomalies v0.1 NALCN Rebecca Foulger gene: NALCN was added
gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Fetal anomalies v0.1 NAGS Rebecca Foulger gene: NAGS was added
gene: NAGS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Fetal anomalies v0.1 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B
Fetal anomalies v0.1 NAGA Rebecca Foulger Added phenotypes SCHINDLER DISEASE for gene: NAGA
Fetal anomalies v0.1 NAGA Rebecca Foulger gene: NAGA was added
gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to KANZAKI DISEASE
Fetal anomalies v0.1 NACC1 Rebecca Foulger gene: NACC1 was added
gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Fetal anomalies v0.1 NAA15 Rebecca Foulger gene: NAA15 was added
gene: NAA15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
Fetal anomalies v0.1 NAA10 Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome/Lenz for gene: NAA10
Fetal anomalies v0.1 NAA10 Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome for gene: NAA10
Fetal anomalies v0.1 NAA10 Rebecca Foulger Added phenotypes OGDEN SYNDROME for gene: NAA10
Fetal anomalies v0.1 NAA10 Rebecca Foulger gene: NAA10 was added
gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: NAA10 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: NAA10 were set to NONPECIFIC SEVERE ID
Fetal anomalies v0.1 MYT1L Rebecca Foulger gene: MYT1L was added
gene: MYT1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYT1L were set to MYT1L syndrome
Fetal anomalies v0.1 MYT1 Rebecca Foulger gene: MYT1 was added
gene: MYT1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 28612832
Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS)
Fetal anomalies v0.1 MYO7A Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1B for gene: MYO7A
Fetal anomalies v0.1 MYO7A Rebecca Foulger gene: MYO7A was added
gene: MYO7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2
Fetal anomalies v0.1 MYO5B Rebecca Foulger gene: MYO5B was added
gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE
Fetal anomalies v0.1 MYO5A Rebecca Foulger Added phenotypes GRISCELLI SYNDROME TYPE 3 for gene: MYO5A
Fetal anomalies v0.1 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME
Fetal anomalies v0.1 MYLK Rebecca Foulger gene: MYLK was added
gene: MYLK was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Fetal anomalies v0.1 MYH9 Rebecca Foulger Added phenotypes MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS for gene: MYH9
Fetal anomalies v0.1 MYH9 Rebecca Foulger Added phenotypes FECHTNER SYNDROME for gene: MYH9
Fetal anomalies v0.1 MYH9 Rebecca Foulger Added phenotypes EPSTEIN SYNDROME for gene: MYH9
Fetal anomalies v0.1 MYH9 Rebecca Foulger Added phenotypes MAY-HEGGLIN ANOMALY for gene: MYH9
Fetal anomalies v0.1 MYH9 Rebecca Foulger Added phenotypes SEBASTIAN SYNDROME for gene: MYH9
Fetal anomalies v0.1 MYH9 Rebecca Foulger gene: MYH9 was added
gene: MYH9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17
Fetal anomalies v0.1 MYH8 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE for gene: MYH8
Fetal anomalies v0.1 MYH8 Rebecca Foulger gene: MYH8 was added
gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT
Fetal anomalies v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 for gene: MYH6
Fetal anomalies v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE for gene: MYH6
Fetal anomalies v0.1 MYH6 Rebecca Foulger gene: MYH6 was added
gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3
Fetal anomalies v0.1 MYH3 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A for gene: MYH3
Fetal anomalies v0.1 MYH3 Rebecca Foulger gene: MYH3 was added
gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B
Fetal anomalies v0.1 MYCN Rebecca Foulger gene: MYCN was added
gene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1
Fetal anomalies v0.1 MYBPC1 Rebecca Foulger Added phenotypes Lethal congenital contracture syndrome 4 614915 for gene: MYBPC1
Fetal anomalies v0.1 MYBPC1 Rebecca Foulger gene: MYBPC1 was added
gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335
Fetal anomalies v0.1 MUT Rebecca Foulger gene: MUT was added
gene: MUT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT
Fetal anomalies v0.1 MUSK Rebecca Foulger Added phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency for gene: MUSK
Fetal anomalies v0.1 MUSK Rebecca Foulger gene: MUSK was added
gene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence
Fetal anomalies v0.1 MT-TP Rebecca Foulger gene: MT-TP was added
gene: MT-TP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF
Fetal anomalies v0.1 MTRR Rebecca Foulger gene: MTRR was added
gene: MTRR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
Fetal anomalies v0.1 MTR Rebecca Foulger gene: MTR was added
gene: MTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G
Fetal anomalies v0.1 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome
Fetal anomalies v0.1 MTO1 Rebecca Foulger gene: MTO1 was added
gene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Fetal anomalies v0.1 MTM1 Rebecca Foulger gene: MTM1 was added
gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED
Fetal anomalies v0.1 MTHFR Rebecca Foulger gene: MTHFR was added
gene: MTHFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.1 MSX2 Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 2 for gene: MSX2
Fetal anomalies v0.1 MSX2 Rebecca Foulger gene: MSX2 was added
gene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM
Fetal anomalies v0.1 MSX1 Rebecca Foulger gene: MSX1 was added
gene: MSX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE
Fetal anomalies v0.1 MSL3 Rebecca Foulger gene: MSL3 was added
gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MSL3 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: MSL3 were set to MSL3 syndrome
Fetal anomalies v0.1 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MSH2 Rebecca Foulger Added phenotypes Mismatch repair cancer syndrome for gene: MSH2
Fetal anomalies v0.1 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MRPS34 Rebecca Foulger gene: MRPS34 was added
gene: MRPS34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
Fetal anomalies v0.1 MRPS22 Rebecca Foulger gene: MRPS22 was added
gene: MRPS22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
Fetal anomalies v0.1 MRE11 Rebecca Foulger gene: MRE11 was added
gene: MRE11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Roussy-Levy syndrome 180800 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Neuropathy, congenital hypomyelinating 605253 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 2J 607736 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 2I 607677 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 1B 118200 for gene: MPZ
Fetal anomalies v0.1 MPZ Rebecca Foulger gene: MPZ was added
gene: MPZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease, dominant intermediate D 607791
Fetal anomalies v0.1 MPV17 Rebecca Foulger gene: MPV17 was added
gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6
Fetal anomalies v0.1 MPLKIP Rebecca Foulger gene: MPLKIP was added
gene: MPLKIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1
Fetal anomalies v0.1 MPI Rebecca Foulger gene: MPI was added
gene: MPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MPDU1 Rebecca Foulger gene: MPDU1 was added
gene: MPDU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MOGS Rebecca Foulger gene: MOGS was added
gene: MOGS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 MOCS2 Rebecca Foulger gene: MOCS2 was added
gene: MOCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.1 MOCS1 Rebecca Foulger gene: MOCS1 was added
gene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY
Fetal anomalies v0.1 MNX1 Rebecca Foulger gene: MNX1 was added
gene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME
Fetal anomalies v0.1 MMP21 Rebecca Foulger gene: MMP21 was added
gene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy
Fetal anomalies v0.1 MMP13 Rebecca Foulger Added phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 for gene: MMP13
Fetal anomalies v0.1 MMP13 Rebecca Foulger gene: MMP13 was added
gene: MMP13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE
Fetal anomalies v0.1 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD
Fetal anomalies v0.1 MMACHC Rebecca Foulger gene: MMACHC was added
gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
Fetal anomalies v0.1 MMAB Rebecca Foulger gene: MMAB was added
gene: MMAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB
Fetal anomalies v0.1 MMAA Rebecca Foulger gene: MMAA was added
gene: MMAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA
Fetal anomalies v0.1 MLYCD Rebecca Foulger gene: MLYCD was added
gene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.1 MLC1 Rebecca Foulger gene: MLC1 was added
gene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS
Fetal anomalies v0.1 MKS1 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 for gene: MKS1
Fetal anomalies v0.1 MKS1 Rebecca Foulger gene: MKS1 was added
gene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1
Fetal anomalies v0.1 MKKS Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 for gene: MKKS
Fetal anomalies v0.1 MKKS Rebecca Foulger gene: MKKS was added
gene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME
Fetal anomalies v0.1 MITF Rebecca Foulger Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF
Fetal anomalies v0.1 MITF Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2A for gene: MITF
Fetal anomalies v0.1 MITF Rebecca Foulger Added phenotypes TIETZ SYNDROME for gene: MITF
Fetal anomalies v0.1 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
Fetal anomalies v0.1 MIR17HG Rebecca Foulger gene: MIR17HG was added
gene: MIR17HG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME
Fetal anomalies v0.1 MID1 Rebecca Foulger gene: MID1 was added
gene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED
Fetal anomalies v0.1 MICU1 Rebecca Foulger gene: MICU1 was added
gene: MICU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Fetal anomalies v0.1 MGP Rebecca Foulger gene: MGP was added
gene: MGP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to KEUTEL SYNDROME
Fetal anomalies v0.1 MGAT2 Rebecca Foulger gene: MGAT2 was added
gene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A
Fetal anomalies v0.1 MFSD8 Rebecca Foulger gene: MFSD8 was added
gene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Fetal anomalies v0.1 MFSD2A Rebecca Foulger gene: MFSD2A was added
gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 MFRP Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 5 for gene: MFRP
Fetal anomalies v0.1 MFRP Rebecca Foulger gene: MFRP was added
gene: MFRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2
Fetal anomalies v0.1 MESP2 Rebecca Foulger gene: MESP2 was added
gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2
Fetal anomalies v0.1 MEOX1 Rebecca Foulger gene: MEOX1 was added
gene: MEOX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY
Fetal anomalies v0.1 MEGF8 Rebecca Foulger gene: MEGF8 was added
gene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME
Fetal anomalies v0.1 MEGF10 Rebecca Foulger gene: MEGF10 was added
gene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
Fetal anomalies v0.1 MEF2C Rebecca Foulger gene: MEF2C was added
gene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
Fetal anomalies v0.1 MED17 Rebecca Foulger gene: MED17 was added
gene: MED17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Fetal anomalies v0.1 MED13L Rebecca Foulger gene: MED13L was added
gene: MED13L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 MED12 Rebecca Foulger Added phenotypes LUJAN-FRYNS SYNDROME for gene: MED12
Fetal anomalies v0.1 MED12 Rebecca Foulger gene: MED12 was added
gene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME
Fetal anomalies v0.1 MECR Rebecca Foulger gene: MECR was added
gene: MECR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy
Fetal anomalies v0.1 MECP2 Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS for gene: MECP2
Fetal anomalies v0.1 MECP2 Rebecca Foulger Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME for gene: MECP2
Fetal anomalies v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 for gene: MECP2
Fetal anomalies v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE for gene: MECP2
Fetal anomalies v0.1 MECP2 Rebecca Foulger gene: MECP2 was added
gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MECP2 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: MECP2 were set to RETT SYNDROME (RTT)[
Fetal anomalies v0.1 MECOM Rebecca Foulger gene: MECOM was added
gene: MECOM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Fetal anomalies v0.1 MDH2 Rebecca Foulger gene: MDH2 was added
gene: MDH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy
Fetal anomalies v0.1 MCPH1 Rebecca Foulger gene: MCPH1 was added
gene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1
Fetal anomalies v0.1 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV
Fetal anomalies v0.1 MCEE Rebecca Foulger gene: MCEE was added
gene: MCEE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY
Fetal anomalies v0.1 MCCC2 Rebecca Foulger gene: MCCC2 was added
gene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Fetal anomalies v0.1 MCCC1 Rebecca Foulger gene: MCCC1 was added
gene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 MC2R Rebecca Foulger gene: MC2R was added
gene: MC2R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1
Fetal anomalies v0.1 MBTPS2 Rebecca Foulger Added phenotypes Keratosis follicularis spinulosa decalvans, X-linked 308800 for gene: MBTPS2
Fetal anomalies v0.1 MBTPS2 Rebecca Foulger gene: MBTPS2 was added
gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205
Fetal anomalies v0.1 MBOAT7 Rebecca Foulger gene: MBOAT7 was added
gene: MBOAT7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Fetal anomalies v0.1 MATN3 Rebecca Foulger gene: MATN3 was added
gene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Fetal anomalies v0.1 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 MASP1 Rebecca Foulger gene: MASP1 was added
gene: MASP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1
Fetal anomalies v0.1 MAPRE2 Rebecca Foulger gene: MAPRE2 was added
gene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type
Fetal anomalies v0.1 MAP3K7 Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA for gene: MAP3K7
Fetal anomalies v0.1 MAP3K7 Rebecca Foulger gene: MAP3K7 was added
gene: MAP3K7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome
Fetal anomalies v0.1 MAP3K1 Rebecca Foulger gene: MAP3K1 was added
gene: MAP3K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6
Fetal anomalies v0.1 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 MAOA Rebecca Foulger gene: MAOA was added
gene: MAOA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to BRUNNER SYNDROME
Fetal anomalies v0.1 MANBA Rebecca Foulger gene: MANBA was added
gene: MANBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS
Fetal anomalies v0.1 MAN2B1 Rebecca Foulger gene: MAN2B1 was added
gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS
Fetal anomalies v0.1 MAN1B1 Rebecca Foulger gene: MAN1B1 was added
gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 MAMLD1 Rebecca Foulger gene: MAMLD1 was added
gene: MAMLD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2
Fetal anomalies v0.1 MAGEL2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2
Fetal anomalies v0.1 MAGEL2 Rebecca Foulger gene: MAGEL2 was added
gene: MAGEL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome
Fetal anomalies v0.1 MAFB Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB
Fetal anomalies v0.1 MAFB Rebecca Foulger gene: MAFB was added
gene: MAFB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
Fetal anomalies v0.1 MAF Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 for gene: MAF
Fetal anomalies v0.1 MAF Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED for gene: MAF
Fetal anomalies v0.1 MAF Rebecca Foulger gene: MAF was added
gene: MAF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Fetal anomalies v0.1 MAB21L2 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 14 for gene: MAB21L2
Fetal anomalies v0.1 MAB21L2 Rebecca Foulger gene: MAB21L2 was added
gene: MAB21L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14
Fetal anomalies v0.1 LZTFL1 Rebecca Foulger gene: LZTFL1 was added
gene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994
Fetal anomalies v0.1 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME
Fetal anomalies v0.1 LTBP4 Rebecca Foulger gene: LTBP4 was added
gene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177
Fetal anomalies v0.1 LTBP3 Rebecca Foulger gene: LTBP3 was added
gene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Fetal anomalies v0.1 LTBP2 Rebecca Foulger Added phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3D for gene: LTBP2
Fetal anomalies v0.1 LTBP2 Rebecca Foulger gene: LTBP2 was added
gene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA
Fetal anomalies v0.1 LRRC6 Rebecca Foulger gene: LRRC6 was added
gene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA
Fetal anomalies v0.1 LRPPRC Rebecca Foulger gene: LRPPRC was added
gene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Fetal anomalies v0.1 LRP5 Rebecca Foulger Added phenotypes OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME for gene: LRP5
Fetal anomalies v0.1 LRP5 Rebecca Foulger Added phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 for gene: LRP5
Fetal anomalies v0.1 LRP5 Rebecca Foulger Added phenotypes ENDOSTEAL HYPEROSTOSIS WORTH TYPE for gene: LRP5
Fetal anomalies v0.1 LRP5 Rebecca Foulger Added phenotypes OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 for gene: LRP5
Fetal anomalies v0.1 LRP5 Rebecca Foulger gene: LRP5 was added
gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT
Fetal anomalies v0.1 LRP4 Rebecca Foulger gene: LRP4 was added
gene: LRP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME
Fetal anomalies v0.1 LRP2 Rebecca Foulger gene: LRP2 was added
gene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME
Fetal anomalies v0.1 LRIT3 Rebecca Foulger gene: LRIT3 was added
gene: LRIT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS
Fetal anomalies v0.1 LRIG2 Rebecca Foulger gene: LRIG2 was added
gene: LRIG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.1 LRBA Rebecca Foulger gene: LRBA was added
gene: LRBA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA
Fetal anomalies v0.1 LRAT Rebecca Foulger gene: LRAT was added
gene: LRAT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.1 LONP1 Rebecca Foulger gene: LONP1 was added
gene: LONP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS SYNDROME
Fetal anomalies v0.1 LMX1B Rebecca Foulger gene: LMX1B was added
gene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME
Fetal anomalies v0.1 LMOD3 Rebecca Foulger gene: LMOD3 was added
gene: LMOD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 616165
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM for gene: LMNA
Fetal anomalies v0.1 LMNA Rebecca Foulger gene: LMNA was added
gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A
Fetal anomalies v0.1 LMBRD1 Rebecca Foulger gene: LMBRD1 was added
gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Triphalangeal thumb-polysyndactyly syndrome 174500 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Triphalangeal thumb, type I 174500 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Syndactyly, type IV 186200 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Polydactyly, preaxial type II 174500 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Laurin-Sandrow syndrome 135750 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger Added phenotypes Hypoplastic or aplastic tibia with polydactyly 188740 for gene: LMBR1
Fetal anomalies v0.1 LMBR1 Rebecca Foulger gene: LMBR1 was added
gene: LMBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody 200500
Fetal anomalies v0.1 LIPT2 Rebecca Foulger gene: LIPT2 was added
gene: LIPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.1 LIPT1 Rebecca Foulger gene: LIPT1 was added
gene: LIPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.1 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4
Fetal anomalies v0.1 LINS1 Rebecca Foulger gene: LINS1 was added
gene: LINS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.1 LIG4 Rebecca Foulger Added phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION for gene: LIG4
Fetal anomalies v0.1 LIG4 Rebecca Foulger gene: LIG4 was added
gene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 SYNDROME
Fetal anomalies v0.1 LIFR Rebecca Foulger Added phenotypes Schwartz-Jampel type 2 syndrome for gene: LIFR
Fetal anomalies v0.1 LIFR Rebecca Foulger gene: LIFR was added
gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome
Fetal anomalies v0.1 LIAS Rebecca Foulger gene: LIAS was added
gene: LIAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Fetal anomalies v0.1 LHX4 Rebecca Foulger gene: LHX4 was added
gene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.1 LHX3 Rebecca Foulger gene: LHX3 was added
gene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
Fetal anomalies v0.1 LGI4 Rebecca Foulger gene: LGI4 was added
gene: LGI4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
Fetal anomalies v0.1 LFNG Rebecca Foulger gene: LFNG was added
gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3
Fetal anomalies v0.1 LEMD3 Rebecca Foulger Added phenotypes MELORHEOSTOSIS for gene: LEMD3
Fetal anomalies v0.1 LEMD3 Rebecca Foulger gene: LEMD3 was added
gene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME
Fetal anomalies v0.1 LDB3 Rebecca Foulger Added phenotypes MYOPATHY MYOFIBRILLAR TYPE 4 for gene: LDB3
Fetal anomalies v0.1 LDB3 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1C for gene: LDB3
Fetal anomalies v0.1 LDB3 Rebecca Foulger gene: LDB3 was added
gene: LDB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3
Fetal anomalies v0.1 LBR Rebecca Foulger gene: LBR was added
gene: LBR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Fetal anomalies v0.1 LARS2 Rebecca Foulger gene: LARS2 was added
gene: LARS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME
Fetal anomalies v0.1 LARP7 Rebecca Foulger gene: LARP7 was added
gene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME
Fetal anomalies v0.1 LARGE1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 for gene: LARGE1
Fetal anomalies v0.1 LARGE1 Rebecca Foulger gene: LARGE1 was added
gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6
Fetal anomalies v0.1 LAMP2 Rebecca Foulger gene: LAMP2 was added
gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to DANON DISEASE
Fetal anomalies v0.1 LAMC3 Rebecca Foulger gene: LAMC3 was added
gene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS
Fetal anomalies v0.1 LAMC2 Rebecca Foulger gene: LAMC2 was added
gene: LAMC2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650
Fetal anomalies v0.1 LAMB3 Rebecca Foulger gene: LAMB3 was added
gene: LAMB3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650
Fetal anomalies v0.1 LAMB1 Rebecca Foulger gene: LAMB1 was added
gene: LAMB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES
Fetal anomalies v0.1 LAMA3 Rebecca Foulger gene: LAMA3 was added
gene: LAMA3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700
Fetal anomalies v0.1 LAMA2 Rebecca Foulger gene: LAMA2 was added
gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.1 LAMA1 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: LAMA1
Fetal anomalies v0.1 LAMA1 Rebecca Foulger gene: LAMA1 was added
gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
Fetal anomalies v0.1 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA
Fetal anomalies v0.1 L1CAM Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 for gene: L1CAM
Fetal anomalies v0.1 L1CAM Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM for gene: L1CAM
Fetal anomalies v0.1 L1CAM Rebecca Foulger Added phenotypes HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS for gene: L1CAM
Fetal anomalies v0.1 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME
Fetal anomalies v0.1 KYNU Rebecca Foulger gene: KYNU was added
gene: KYNU was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661
Fetal anomalies v0.1 KRT74 Rebecca Foulger gene: KRT74 was added
gene: KRT74 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2
Fetal anomalies v0.1 KRIT1 Rebecca Foulger gene: KRIT1 was added
gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Fetal anomalies v0.1 KRAS Rebecca Foulger Added phenotypes NOONAN SYNDROME TYPE 3 for gene: KRAS
Fetal anomalies v0.1 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME
Fetal anomalies v0.1 KPTN Rebecca Foulger gene: KPTN was added
gene: KPTN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Fetal anomalies v0.1 KMT5B Rebecca Foulger gene: KMT5B was added
gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT5B were set to KMT5B syndrome
Fetal anomalies v0.1 KMT2D Rebecca Foulger gene: KMT2D was added
gene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to KABUKI SYNDROME
Fetal anomalies v0.1 KMT2C Rebecca Foulger Source PAGE Additional Gene List was added to KMT2C.
Added phenotypes Kleefstra syndrome 2 617768 for gene: KMT2C
Fetal anomalies v0.1 KMT2C Rebecca Foulger gene: KMT2C was added
gene: KMT2C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2C were set to 29276005
Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia
Fetal anomalies v0.1 KMT2A Rebecca Foulger gene: KMT2A was added
gene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME
Fetal anomalies v0.1 KLHL7 Rebecca Foulger gene: KLHL7 was added
gene: KLHL7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Fetal anomalies v0.1 KLHL41 Rebecca Foulger gene: KLHL41 was added
gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731
Fetal anomalies v0.1 KLHL40 Rebecca Foulger gene: KLHL40 was added
gene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 KLF1 Rebecca Foulger gene: KLF1 was added
gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
Fetal anomalies v0.1 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIT were set to HUMAN PIEBALDISM
Fetal anomalies v0.1 KISS1R Rebecca Foulger gene: KISS1R was added
gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837
Fetal anomalies v0.1 KIF7 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: KIF7
Fetal anomalies v0.1 KIF7 Rebecca Foulger gene: KIF7 was added
gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME
Fetal anomalies v0.1 KIF5C Rebecca Foulger gene: KIF5C was added
gene: KIF5C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Fetal anomalies v0.1 KIF2A Rebecca Foulger gene: KIF2A was added
gene: KIF2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Fetal anomalies v0.1 KIF22 Rebecca Foulger gene: KIF22 was added
gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Fetal anomalies v0.1 KIF1BP Rebecca Foulger gene: KIF1BP was added
gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Fetal anomalies v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC for gene: KIF1A
Fetal anomalies v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC for gene: KIF1A
Fetal anomalies v0.1 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Fetal anomalies v0.1 KIF11 Rebecca Foulger gene: KIF11 was added
gene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY
Fetal anomalies v0.1 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity.
Fetal anomalies v0.1 KIAA1109 Rebecca Foulger gene: KIAA1109 was added
gene: KIAA1109 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures
Fetal anomalies v0.1 KIAA0586 Rebecca Foulger gene: KIAA0586 was added
gene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME
Fetal anomalies v0.1 KDM6A Rebecca Foulger gene: KDM6A was added
gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KDM6A 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: KDM6A were set to KABUKI SYNDROME 2
Fetal anomalies v0.1 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
Fetal anomalies v0.1 KDM1A Rebecca Foulger gene: KDM1A was added
gene: KDM1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features
Fetal anomalies v0.1 KCTD7 Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 for gene: KCTD7
Fetal anomalies v0.1 KCTD7 Rebecca Foulger gene: KCTD7 was added
gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS
Fetal anomalies v0.1 KCTD1 Rebecca Foulger gene: KCTD1 was added
gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Fetal anomalies v0.1 KCNT1 Rebecca Foulger Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY for gene: KCNT1
Fetal anomalies v0.1 KCNT1 Rebecca Foulger gene: KCNT1 was added
gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Fetal anomalies v0.1 KCNQ5 Rebecca Foulger Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5
Fetal anomalies v0.1 KCNQ5 Rebecca Foulger gene: KCNQ5 was added
gene: KCNQ5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy
Fetal anomalies v0.1 KCNQ3 Rebecca Foulger gene: KCNQ3 was added
gene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome
Fetal anomalies v0.1 KCNQ2 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 for gene: KCNQ2
Fetal anomalies v0.1 KCNQ2 Rebecca Foulger gene: KCNQ2 was added
gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1
Fetal anomalies v0.1 KCNQ1 Rebecca Foulger gene: KCNQ1 was added
gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Fetal anomalies v0.1 KCNJ6 Rebecca Foulger gene: KCNJ6 was added
gene: KCNJ6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME
Fetal anomalies v0.1 KCNJ2 Rebecca Foulger gene: KCNJ2 was added
gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNJ2 were set to Andersen syndrome 170390
Fetal anomalies v0.1 KCNJ11 Rebecca Foulger Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL for gene: KCNJ11
Fetal anomalies v0.1 KCNJ11 Rebecca Foulger Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL for gene: KCNJ11
Fetal anomalies v0.1 KCNJ11 Rebecca Foulger gene: KCNJ11 was added
gene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM
Fetal anomalies v0.1 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE
Fetal anomalies v0.1 KCNJ1 Rebecca Foulger gene: KCNJ1 was added
gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200
Fetal anomalies v0.1 KCNH1 Rebecca Foulger gene: KCNH1 was added
gene: KCNH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME
Fetal anomalies v0.1 KCNE1 Rebecca Foulger gene: KCNE1 was added
gene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
Fetal anomalies v0.1 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13
Fetal anomalies v0.1 KCNC1 Rebecca Foulger gene: KCNC1 was added
gene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7
Fetal anomalies v0.1 KCNB1 Rebecca Foulger gene: KCNB1 was added
gene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Fetal anomalies v0.1 KCNA2 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY. for gene: KCNA2
Fetal anomalies v0.1 KCNA2 Rebecca Foulger gene: KCNA2 was added
gene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.1 KBTBD13 Rebecca Foulger gene: KBTBD13 was added
gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6
Fetal anomalies v0.1 KAT6B Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME for gene: KAT6B
Fetal anomalies v0.1 KAT6B Rebecca Foulger gene: KAT6B was added
gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
Fetal anomalies v0.1 KAT6A Rebecca Foulger gene: KAT6A was added
gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Fetal anomalies v0.1 KARS Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 for gene: KARS
Fetal anomalies v0.1 KARS Rebecca Foulger gene: KARS was added
gene: KARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
Fetal anomalies v0.1 KANSL1 Rebecca Foulger gene: KANSL1 was added
gene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Fetal anomalies v0.1 JAM3 Rebecca Foulger gene: JAM3 was added
gene: JAM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
Fetal anomalies v0.1 JAK3 Rebecca Foulger gene: JAK3 was added
gene: JAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED
Fetal anomalies v0.1 JAGN1 Rebecca Foulger gene: JAGN1 was added
gene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA
Fetal anomalies v0.1 JAG1 Rebecca Foulger gene: JAG1 was added
gene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME
Fetal anomalies v0.1 IVD Rebecca Foulger gene: IVD was added
gene: IVD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA
Fetal anomalies v0.1 ITPR1 Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1
Fetal anomalies v0.1 ITPR1 Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1
Fetal anomalies v0.1 ITPR1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE for gene: ITPR1
Fetal anomalies v0.1 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15
Fetal anomalies v0.1 ITGB4 Rebecca Foulger gene: ITGB4 was added
gene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.1 ITGA8 Rebecca Foulger gene: ITGA8 was added
gene: ITGA8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1
Fetal anomalies v0.1 ITGA7 Rebecca Foulger gene: ITGA7 was added
gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.1 ITGA6 Rebecca Foulger gene: ITGA6 was added
gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730
Fetal anomalies v0.1 ITGA3 Rebecca Foulger gene: ITGA3 was added
gene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Fetal anomalies v0.1 ITCH Rebecca Foulger gene: ITCH was added
gene: ITCH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
Fetal anomalies v0.1 ISPD Rebecca Foulger gene: ISPD was added
gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME
Fetal anomalies v0.1 IRX5 Rebecca Foulger gene: IRX5 was added
gene: IRX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Fetal anomalies v0.1 IRF6 Rebecca Foulger Added phenotypes POPLITEAL PTERYGIUM SYNDROME for gene: IRF6
Fetal anomalies v0.1 IRF6 Rebecca Foulger gene: IRF6 was added
gene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.1 IQSEC2 Rebecca Foulger gene: IQSEC2 was added
gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1
Fetal anomalies v0.1 IQCB1 Rebecca Foulger gene: IQCB1 was added
gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254
Fetal anomalies v0.1 INVS Rebecca Foulger gene: INVS was added
gene: INVS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2 602088
Fetal anomalies v0.1 INSR Rebecca Foulger Added phenotypes Rabson-Mendenhall syndrome 262190 for gene: INSR
Fetal anomalies v0.1 INSR Rebecca Foulger Added phenotypes DONOHUE SYNDROME 246200 for gene: INSR
Fetal anomalies v0.1 INSR Rebecca Foulger Added phenotypes Hyperinsulinemic hypoglycemia, familial, 5 609968 for gene: INSR
Fetal anomalies v0.1 INSR Rebecca Foulger gene: INSR was added
gene: INSR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
Fetal anomalies v0.1 INPPL1 Rebecca Foulger gene: INPPL1 was added
gene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA
Fetal anomalies v0.1 INPP5K Rebecca Foulger gene: INPP5K was added
gene: INPP5K was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability
Fetal anomalies v0.1 INPP5E Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 1 for gene: INPP5E
Fetal anomalies v0.1 INPP5E Rebecca Foulger gene: INPP5E was added
gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
Fetal anomalies v0.1 IMPAD1 Rebecca Foulger gene: IMPAD1 was added
gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE
Fetal anomalies v0.1 IL1RAPL1 Rebecca Foulger gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
Fetal anomalies v0.1 IL17RD Rebecca Foulger gene: IL17RD was added
gene: IL17RD was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: IL17RD was set to Unknown
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Fetal anomalies v0.1 IL11RA Rebecca Foulger Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA
Fetal anomalies v0.1 IL11RA Rebecca Foulger gene: IL11RA was added
gene: IL11RA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis
Fetal anomalies v0.1 IKBKG Rebecca Foulger Added phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 for gene: IKBKG
Fetal anomalies v0.1 IKBKG Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED for gene: IKBKG
Fetal anomalies v0.1 IKBKG Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA for gene: IKBKG
Fetal anomalies v0.1 IKBKG Rebecca Foulger Added phenotypes INCONTINENTIA PIGMENTI for gene: IKBKG
Fetal anomalies v0.1 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Fetal anomalies v0.1 IHH Rebecca Foulger Added phenotypes ACROCAPITOFEMORAL DYSPLASIA for gene: IHH
Fetal anomalies v0.1 IHH Rebecca Foulger gene: IHH was added
gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1
Fetal anomalies v0.1 IGSF1 Rebecca Foulger gene: IGSF1 was added
gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT
Fetal anomalies v0.1 IGHMBP2 Rebecca Foulger gene: IGHMBP2 was added
gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Fetal anomalies v0.1 IGFBP7 Rebecca Foulger gene: IGFBP7 was added
gene: IGFBP7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
Fetal anomalies v0.1 IGF2 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME for gene: IGF2
Fetal anomalies v0.1 IGF2 Rebecca Foulger gene: IGF2 was added
gene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME
Fetal anomalies v0.1 IGF1R Rebecca Foulger Added phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO for gene: IGF1R
Fetal anomalies v0.1 IGF1R Rebecca Foulger gene: IGF1R was added
gene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
Fetal anomalies v0.1 IGF1 Rebecca Foulger gene: IGF1 was added
gene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
Fetal anomalies v0.1 IFT80 Rebecca Foulger gene: IFT80 was added
gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2
Fetal anomalies v0.1 IFT43 Rebecca Foulger gene: IFT43 was added
gene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3
Fetal anomalies v0.1 IFT172 Rebecca Foulger Added phenotypes JEUNE SYNDROME for gene: IFT172
Fetal anomalies v0.1 IFT172 Rebecca Foulger gene: IFT172 was added
gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.1 IFT140 Rebecca Foulger gene: IFT140 was added
gene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME
Fetal anomalies v0.1 IFT122 Rebecca Foulger gene: IFT122 was added
gene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA
Fetal anomalies v0.1 IFITM5 Rebecca Foulger gene: IFITM5 was added
gene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V
Fetal anomalies v0.1 IFIH1 Rebecca Foulger Added phenotypes SINGLETON-MERTEN SYNDROME for gene: IFIH1
Fetal anomalies v0.1 IFIH1 Rebecca Foulger gene: IFIH1 was added
gene: IFIH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7
Fetal anomalies v0.1 IER3IP1 Rebecca Foulger gene: IER3IP1 was added
gene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231
Fetal anomalies v0.1 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H for gene: IDUA
Fetal anomalies v0.1 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S for gene: IDUA
Fetal anomalies v0.1 IDUA Rebecca Foulger gene: IDUA was added
gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S
Fetal anomalies v0.1 IDS Rebecca Foulger gene: IDS was added
gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
Fetal anomalies v0.1 IARS Rebecca Foulger gene: IARS was added
gene: IARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Fetal anomalies v0.1 HYLS1 Rebecca Foulger gene: HYLS1 was added
gene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1
Fetal anomalies v0.1 HYDIN Rebecca Foulger gene: HYDIN was added
gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5
Fetal anomalies v0.1 HYAL1 Rebecca Foulger gene: HYAL1 was added
gene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9
Fetal anomalies v0.1 HUWE1 Rebecca Foulger gene: HUWE1 was added
gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
Fetal anomalies v0.1 HSPG2 Rebecca Foulger Added phenotypes DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE for gene: HSPG2
Fetal anomalies v0.1 HSPG2 Rebecca Foulger gene: HSPG2 was added
gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME
Fetal anomalies v0.1 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Fetal anomalies v0.1 HSF4 Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED for gene: HSF4
Fetal anomalies v0.1 HSF4 Rebecca Foulger gene: HSF4 was added
gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE
Fetal anomalies v0.1 HSD3B7 Rebecca Foulger gene: HSD3B7 was added
gene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
Fetal anomalies v0.1 HSD17B4 Rebecca Foulger Added phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY for gene: HSD17B4
Fetal anomalies v0.1 HSD17B4 Rebecca Foulger gene: HSD17B4 was added
gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME
Fetal anomalies v0.1 HSD17B3 Rebecca Foulger gene: HSD17B3 was added
gene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300
Fetal anomalies v0.1 HSD17B10 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 for gene: HSD17B10
Fetal anomalies v0.1 HSD17B10 Rebecca Foulger gene: HSD17B10 was added
gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HRAS Rebecca Foulger Added phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES for gene: HRAS
Fetal anomalies v0.1 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to COSTELLO SYNDROME
Fetal anomalies v0.1 HR Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS for gene: HR
Fetal anomalies v0.1 HR Rebecca Foulger gene: HR was added
gene: HR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS
Fetal anomalies v0.1 HPSE2 Rebecca Foulger gene: HPSE2 was added
gene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME
Fetal anomalies v0.1 HPS1 Rebecca Foulger gene: HPS1 was added
gene: HPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME
Fetal anomalies v0.1 HPRT1 Rebecca Foulger Added phenotypes LESCH-NYHAN SYNDROME for gene: HPRT1
Fetal anomalies v0.1 HPRT1 Rebecca Foulger gene: HPRT1 was added
gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED
Fetal anomalies v0.1 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY
Fetal anomalies v0.1 HPD Rebecca Foulger Added phenotypes TYROSINEMIA TYPE 3 for gene: HPD
Fetal anomalies v0.1 HPD Rebecca Foulger gene: HPD was added
gene: HPD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to HAWKINSINURIA
Fetal anomalies v0.1 HOXD13 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE D for gene: HOXD13
Fetal anomalies v0.1 HOXD13 Rebecca Foulger Added phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME for gene: HOXD13