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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
Fetal anomalies v0.1 HOXD13 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE E for gene: HOXD13
Fetal anomalies v0.1 HOXD13 Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 5 for gene: HOXD13
Fetal anomalies v0.1 HOXD13 Rebecca Foulger Added phenotypes SYNPOLYDACTYLY 1 for gene: HOXD13
Fetal anomalies v0.1 HOXD13 Rebecca Foulger gene: HOXD13 was added
gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION
Fetal anomalies v0.1 HOXC13 Rebecca Foulger gene: HOXC13 was added
gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Fetal anomalies v0.1 HOXB1 Rebecca Foulger gene: HOXB1 was added
gene: HOXB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Fetal anomalies v0.1 HOXA13 Rebecca Foulger gene: HOXA13 was added
gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME
Fetal anomalies v0.1 HOXA1 Rebecca Foulger Added phenotypes ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME for gene: HOXA1
Fetal anomalies v0.1 HOXA1 Rebecca Foulger gene: HOXA1 was added
gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME
Fetal anomalies v0.1 HNRNPU Rebecca Foulger gene: HNRNPU was added
gene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 HNRNPH2 Rebecca Foulger gene: HNRNPH2 was added
gene: HNRNPH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HNRNPH2 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: HNRNPH2 were set to Neurodevelopmental Disorder in Females
Fetal anomalies v0.1 HNF4A Rebecca Foulger Added phenotypes ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY for gene: HNF4A
Fetal anomalies v0.1 HNF4A Rebecca Foulger gene: HNF4A was added
gene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
Fetal anomalies v0.1 HNF1B Rebecca Foulger gene: HNF1B was added
gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME
Fetal anomalies v0.1 HMX1 Rebecca Foulger gene: HMX1 was added
gene: HMX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME
Fetal anomalies v0.1 HMGCS2 Rebecca Foulger gene: HMGCS2 was added
gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Fetal anomalies v0.1 HMGCL Rebecca Foulger gene: HMGCL was added
gene: HMGCL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY
Fetal anomalies v0.1 HLCS Rebecca Foulger gene: HLCS was added
gene: HLCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Fetal anomalies v0.1 HIVEP2 Rebecca Foulger gene: HIVEP2 was added
gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability
Fetal anomalies v0.1 HIST1H4C Rebecca Foulger gene: HIST1H4C was added
gene: HIST1H4C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H4C were set to HIST1H4C
Fetal anomalies v0.1 HIST1H1E Rebecca Foulger gene: HIST1H1E was added
gene: HIST1H1E was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H1E were set to Childhood overgrowth
Fetal anomalies v0.1 HINT1 Rebecca Foulger gene: HINT1 was added
gene: HINT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 HIBCH Rebecca Foulger gene: HIBCH was added
gene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY
Fetal anomalies v0.1 HGSNAT Rebecca Foulger gene: HGSNAT was added
gene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C
Fetal anomalies v0.1 HEXB Rebecca Foulger gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2
Fetal anomalies v0.1 HEXA Rebecca Foulger gene: HEXA was added
gene: HEXA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1
Fetal anomalies v0.1 HESX1 Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY for gene: HESX1
Fetal anomalies v0.1 HESX1 Rebecca Foulger gene: HESX1 was added
gene: HESX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA
Fetal anomalies v0.1 HES7 Rebecca Foulger gene: HES7 was added
gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686
Fetal anomalies v0.1 HECW2 Rebecca Foulger gene: HECW2 was added
gene: HECW2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HECW2 were set to HECW2
Fetal anomalies v0.1 HDAC8 Rebecca Foulger Added phenotypes WILSON-TURNER SYNDROME for gene: HDAC8
Fetal anomalies v0.1 HDAC8 Rebecca Foulger Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8
Fetal anomalies v0.1 HDAC8 Rebecca Foulger gene: HDAC8 was added
gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HDAC8 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: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.1 HDAC4 Rebecca Foulger gene: HDAC4 was added
gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 HCN1 Rebecca Foulger gene: HCN1 was added
gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Fetal anomalies v0.1 HCFC1 Rebecca Foulger Added phenotypes COBALAMIN DISORDER for gene: HCFC1
Fetal anomalies v0.1 HCFC1 Rebecca Foulger gene: HCFC1 was added
gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3
Fetal anomalies v0.1 HCCS Rebecca Foulger gene: HCCS was added
gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HCCS 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: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7
Fetal anomalies v0.1 HAX1 Rebecca Foulger gene: HAX1 was added
gene: HAX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 HADHA Rebecca Foulger gene: HADHA was added
gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HADH Rebecca Foulger gene: HADH was added
gene: HADH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to HACE1 related disorder
Fetal anomalies v0.1 HAAO Rebecca Foulger gene: HAAO was added
gene: HAAO was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Fetal anomalies v0.1 H3F3A Rebecca Foulger gene: H3F3A was added
gene: H3F3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders
Fetal anomalies v0.1 H19 Rebecca Foulger Added phenotypes Wilms tumor 2 194071 for gene: H19
Fetal anomalies v0.1 H19 Rebecca Foulger Added phenotypes Silver-Russell syndrome 180860 for gene: H19
Fetal anomalies v0.1 H19 Rebecca Foulger gene: H19 was added
gene: H19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650
Fetal anomalies v0.1 GZF1 Rebecca Foulger gene: GZF1 was added
gene: GZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GZF1 were set to LARSEN SYNDROME
Fetal anomalies v0.1 GUSB Rebecca Foulger gene: GUSB was added
gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7
Fetal anomalies v0.1 GUCY2C Rebecca Foulger Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 for gene: GUCY2C
Fetal anomalies v0.1 GUCY2C Rebecca Foulger gene: GUCY2C was added
gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS
Fetal anomalies v0.1 GTPBP3 Rebecca Foulger gene: GTPBP3 was added
gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Fetal anomalies v0.1 GTF2H5 Rebecca Foulger gene: GTF2H5 was added
gene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE
Fetal anomalies v0.1 GTF2E2 Rebecca Foulger gene: GTF2E2 was added
gene: GTF2E2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy
Fetal anomalies v0.1 GSPT2 Rebecca Foulger gene: GSPT2 was added
gene: GSPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY
Fetal anomalies v0.1 GRM6 Rebecca Foulger gene: GRM6 was added
gene: GRM6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Fetal anomalies v0.1 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA
Fetal anomalies v0.1 GRIP1 Rebecca Foulger gene: GRIP1 was added
gene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000
Fetal anomalies v0.1 GRIN2D Rebecca Foulger gene: GRIN2D was added
gene: GRIN2D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Fetal anomalies v0.1 GRIN2B Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B
Fetal anomalies v0.1 GRIN2B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 for gene: GRIN2B
Fetal anomalies v0.1 GRIN2B Rebecca Foulger gene: GRIN2B was added
gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2B were set to AUTISM
Fetal anomalies v0.1 GRIN2A Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME for gene: GRIN2A
Fetal anomalies v0.1 GRIN2A Rebecca Foulger gene: GRIN2A was added
gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
Fetal anomalies v0.1 GRIN1 Rebecca Foulger gene: GRIN1 was added
gene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 GRIK2 Rebecca Foulger gene: GRIK2 was added
gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6
Fetal anomalies v0.1 GRIA3 Rebecca Foulger gene: GRIA3 was added
gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94
Fetal anomalies v0.1 GRHL3 Rebecca Foulger gene: GRHL3 was added
gene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME
Fetal anomalies v0.1 GRHL2 Rebecca Foulger gene: GRHL2 was added
gene: GRHL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Fetal anomalies v0.1 GPX4 Rebecca Foulger gene: GPX4 was added
gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Fetal anomalies v0.1 GPSM2 Rebecca Foulger gene: GPSM2 was added
gene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME
Fetal anomalies v0.1 GPKOW Rebecca Foulger gene: GPKOW was added
gene: GPKOW was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Fetal anomalies v0.1 GPI Rebecca Foulger gene: GPI was added
gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470
Fetal anomalies v0.1 GPC6 Rebecca Foulger gene: GPC6 was added
gene: GPC6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [
Fetal anomalies v0.1 GPC3 Rebecca Foulger gene: GPC3 was added
gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Fetal anomalies v0.1 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Fetal anomalies v0.1 GORAB Rebecca Foulger gene: GORAB was added
gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
Fetal anomalies v0.1 GNS Rebecca Foulger gene: GNS was added
gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D
Fetal anomalies v0.1 GNPTG Rebecca Foulger gene: GNPTG was added
gene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C
Fetal anomalies v0.1 GNPTAB Rebecca Foulger Added phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A for gene: GNPTAB
Fetal anomalies v0.1 GNPTAB Rebecca Foulger gene: GNPTAB was added
gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II
Fetal anomalies v0.1 GNPAT Rebecca Foulger gene: GNPAT was added
gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Fetal anomalies v0.1 GNB5 Rebecca Foulger gene: GNB5 was added
gene: GNB5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability
Fetal anomalies v0.1 GNB1 Rebecca Foulger gene: GNB1 was added
gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Fetal anomalies v0.1 GNAS Rebecca Foulger Added phenotypes GNAS HYPERFUNCTION for gene: GNAS
Fetal anomalies v0.1 GNAS Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY for gene: GNAS
Fetal anomalies v0.1 GNAS Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA for gene: GNAS
Fetal anomalies v0.1 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B
Fetal anomalies v0.1 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAQ were set to Congenital Hemangioma
Fetal anomalies v0.1 GNAO1 Rebecca Foulger gene: GNAO1 was added
gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 GNAI3 Rebecca Foulger gene: GNAI3 was added
gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 GNAI1 Rebecca Foulger gene: GNAI1 was added
gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI1 were set to GNAI1 syndrome
Fetal anomalies v0.1 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA14 were set to Congenital vascular tumours
Fetal anomalies v0.1 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNA11 were set to Congenital Hemangioma
Fetal anomalies v0.1 GMPPB Rebecca Foulger gene: GMPPB was added
gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Fetal anomalies v0.1 GMPPA Rebecca Foulger gene: GMPPA was added
gene: GMPPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Fetal anomalies v0.1 GMNN Rebecca Foulger gene: GMNN was added
gene: GMNN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Fetal anomalies v0.1 GM2A Rebecca Foulger gene: GM2A was added
gene: GM2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB
Fetal anomalies v0.1 GLUL Rebecca Foulger gene: GLUL was added
gene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
Fetal anomalies v0.1 GLUD1 Rebecca Foulger gene: GLUD1 was added
gene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Fetal anomalies v0.1 GLMN Rebecca Foulger gene: GLMN was added
gene: GLMN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS
Fetal anomalies v0.1 GLIS3 Rebecca Foulger gene: GLIS3 was added
gene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
Fetal anomalies v0.1 GLIS2 Rebecca Foulger gene: GLIS2 was added
gene: GLIS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7
Fetal anomalies v0.1 GLI3 Rebecca Foulger Added phenotypes PALLISTER-HALL SYNDROME for gene: GLI3
Fetal anomalies v0.1 GLI3 Rebecca Foulger Added phenotypes POSTAXIAL POLYDACTYLY TYPE A for gene: GLI3
Fetal anomalies v0.1 GLI3 Rebecca Foulger Added phenotypes PREAXIAL POLYDACTYLY TYPE IV for gene: GLI3
Fetal anomalies v0.1 GLI3 Rebecca Foulger gene: GLI3 was added
gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Fetal anomalies v0.1 GLI2 Rebecca Foulger gene: GLI2 was added
gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY
Fetal anomalies v0.1 GLE1 Rebecca Foulger gene: GLE1 was added
gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Fetal anomalies v0.1 GLDN Rebecca Foulger gene: GLDN was added
gene: GLDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
Fetal anomalies v0.1 GLDC Rebecca Foulger gene: GLDC was added
gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.1 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 3 for gene: GLB1
Fetal anomalies v0.1 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 1 for gene: GLB1
Fetal anomalies v0.1 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 2 for gene: GLB1
Fetal anomalies v0.1 GLB1 Rebecca Foulger gene: GLB1 was added
gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B
Fetal anomalies v0.1 GK Rebecca Foulger gene: GK was added
gene: GK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY
Fetal anomalies v0.1 GJC2 Rebecca Foulger Added phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 2 for gene: GJC2
Fetal anomalies v0.1 GJC2 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 for gene: GJC2
Fetal anomalies v0.1 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC
Fetal anomalies v0.1 GJB2 Rebecca Foulger Added phenotypes BART-PUMPHREY SYNDROME for gene: GJB2
Fetal anomalies v0.1 GJB2 Rebecca Foulger Added phenotypes VOHWINKEL SYNDROME for gene: GJB2
Fetal anomalies v0.1 GJB2 Rebecca Foulger Added phenotypes ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME for gene: GJB2
Fetal anomalies v0.1 GJB2 Rebecca Foulger Added phenotypes PALMOPLANTAR KERATODERMA WITH DEAFNESS for gene: GJB2
Fetal anomalies v0.1 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
Fetal anomalies v0.1 GJA8 Rebecca Foulger Added phenotypes CATARACT-MICROCORNEA SYNDROME for gene: GJA8
Fetal anomalies v0.1 GJA8 Rebecca Foulger gene: GJA8 was added
gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1
Fetal anomalies v0.1 GJA3 Rebecca Foulger gene: GJA3 was added
gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3
Fetal anomalies v0.1 GJA1 Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA for gene: GJA1
Fetal anomalies v0.1 GJA1 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA for gene: GJA1
Fetal anomalies v0.1 GJA1 Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME for gene: GJA1
Fetal anomalies v0.1 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME
Fetal anomalies v0.1 GHR Rebecca Foulger gene: GHR was added
gene: GHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to PITUITARY DWARFISM II
Fetal anomalies v0.1 GFM1 Rebecca Foulger gene: GFM1 was added
gene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Fetal anomalies v0.1 GFAP Rebecca Foulger gene: GFAP was added
gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to ALEXANDER DISEASE
Fetal anomalies v0.1 GDI1 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 48 for gene: GDI1
Fetal anomalies v0.1 GDI1 Rebecca Foulger gene: GDI1 was added
gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41
Fetal anomalies v0.1 GDF6 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 4 for gene: GDF6
Fetal anomalies v0.1 GDF6 Rebecca Foulger gene: GDF6 was added
gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A2 for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes SYMPHALANGISM PROXIMAL SYNDROME for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A1 for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 2 for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes DU PAN SYNDROME for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE C for gene: GDF5
Fetal anomalies v0.1 GDF5 Rebecca Foulger gene: GDF5 was added
gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE
Fetal anomalies v0.1 GCH1 Rebecca Foulger Added phenotypes DYSTONIA TYPE 5 for gene: GCH1
Fetal anomalies v0.1 GCH1 Rebecca Foulger gene: GCH1 was added
gene: GCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY
Fetal anomalies v0.1 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1
Fetal anomalies v0.1 GBE1 Rebecca Foulger Added phenotypes Polyglucosan body disease, adult form for gene: GBE1
Fetal anomalies v0.1 GBE1 Rebecca Foulger gene: GBE1 was added
gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Fetal anomalies v0.1 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3 for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE PERINATAL LETHAL for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 2 for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3C for gene: GBA
Fetal anomalies v0.1 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1
Fetal anomalies v0.1 GATM Rebecca Foulger gene: GATM was added
gene: GATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 GATAD2B Rebecca Foulger gene: GATAD2B was added
gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.1 GATA6 Rebecca Foulger Added phenotypes ATRIAL SEPTAL DEFECT 9 for gene: GATA6
Fetal anomalies v0.1 GATA6 Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS for gene: GATA6
Fetal anomalies v0.1 GATA6 Rebecca Foulger gene: GATA6 was added
gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5
Fetal anomalies v0.1 GATA4 Rebecca Foulger gene: GATA4 was added
gene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2
Fetal anomalies v0.1 GATA2 Rebecca Foulger gene: GATA2 was added
gene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME
Fetal anomalies v0.1 GAS8 Rebecca Foulger gene: GAS8 was added
gene: GAS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 GAMT Rebecca Foulger gene: GAMT was added
gene: GAMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 GALT Rebecca Foulger gene: GALT was added
gene: GALT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to GALACTOSEMIA
Fetal anomalies v0.1 GALNS Rebecca Foulger gene: GALNS was added
gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A
Fetal anomalies v0.1 GALK1 Rebecca Foulger gene: GALK1 was added
gene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to GALACTOSEMIA II
Fetal anomalies v0.1 GALE Rebecca Foulger gene: GALE was added
gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA
Fetal anomalies v0.1 GALC Rebecca Foulger gene: GALC was added
gene: GALC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to KRABBE DISEASE
Fetal anomalies v0.1 GABRG2 Rebecca Foulger Added phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 for gene: GABRG2
Fetal anomalies v0.1 GABRG2 Rebecca Foulger gene: GABRG2 was added
gene: GABRG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
Fetal anomalies v0.1 GABRB3 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES for gene: GABRB3
Fetal anomalies v0.1 GABRB3 Rebecca Foulger gene: GABRB3 was added
gene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5
Fetal anomalies v0.1 GABRB2 Rebecca Foulger gene: GABRB2 was added
gene: GABRB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 GABRA1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GABRA1
Fetal anomalies v0.1 GABRA1 Rebecca Foulger gene: GABRA1 was added
gene: GABRA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY
Fetal anomalies v0.1 GAA Rebecca Foulger gene: GAA was added
gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II
Fetal anomalies v0.1 G6PC3 Rebecca Foulger Added phenotypes Neutropenia, severe congenital 4, autosomal recessive for gene: G6PC3
Fetal anomalies v0.1 G6PC3 Rebecca Foulger gene: G6PC3 was added
gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome
Fetal anomalies v0.1 FZD6 Rebecca Foulger gene: FZD6 was added
gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
Fetal anomalies v0.1 FZD5 Rebecca Foulger gene: FZD5 was added
gene: FZD5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma
Fetal anomalies v0.1 FYCO1 Rebecca Foulger gene: FYCO1 was added
gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
Fetal anomalies v0.1 FUZ Rebecca Foulger gene: FUZ was added
gene: FUZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FUZ was set to Unknown
Phenotypes for gene: FUZ were set to Neural tube defects 182940
Fetal anomalies v0.1 FUCA1 Rebecca Foulger gene: FUCA1 was added
gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS
Fetal anomalies v0.1 FTSJ1 Rebecca Foulger gene: FTSJ1 was added
gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44
Fetal anomalies v0.1 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Fetal anomalies v0.1 FTCD Rebecca Foulger gene: FTCD was added
gene: FTCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.1 FRRS1L Rebecca Foulger gene: FRRS1L was added
gene: FRRS1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep
Fetal anomalies v0.1 FRMPD4 Rebecca Foulger gene: FRMPD4 was added
gene: FRMPD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMPD4 were set to Intellectual Disability
Fetal anomalies v0.1 FRMD7 Rebecca Foulger gene: FRMD7 was added
gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED
Fetal anomalies v0.1 FREM2 Rebecca Foulger gene: FREM2 was added
gene: FREM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to FRASER SYNDROME
Fetal anomalies v0.1 FREM1 Rebecca Foulger gene: FREM1 was added
gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME
Fetal anomalies v0.1 FRAS1 Rebecca Foulger gene: FRAS1 was added
gene: FRAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to FRASER SYNDROME
Fetal anomalies v0.1 FOXRED1 Rebecca Foulger gene: FOXRED1 was added
gene: FOXRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.1 FOXP3 Rebecca Foulger gene: FOXP3 was added
gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX SYNDROME
Fetal anomalies v0.1 FOXP2 Rebecca Foulger gene: FOXP2 was added
gene: FOXP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1
Fetal anomalies v0.1 FOXP1 Rebecca Foulger gene: FOXP1 was added
gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
Fetal anomalies v0.1 FOXN1 Rebecca Foulger gene: FOXN1 was added
gene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY
Fetal anomalies v0.1 FOXL2 Rebecca Foulger gene: FOXL2 was added
gene: FOXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME
Fetal anomalies v0.1 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME
Fetal anomalies v0.1 FOXF1 Rebecca Foulger gene: FOXF1 was added
gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
Fetal anomalies v0.1 FOXE3 Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS for gene: FOXE3
Fetal anomalies v0.1 FOXE3 Rebecca Foulger gene: FOXE3 was added
gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA
Fetal anomalies v0.1 FOXE1 Rebecca Foulger gene: FOXE1 was added
gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME
Fetal anomalies v0.1 FOXC2 Rebecca Foulger Added phenotypes HEREDITARY LYMPHEDEMA II for gene: FOXC2
Fetal anomalies v0.1 FOXC2 Rebecca Foulger gene: FOXC2 was added
gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME
Fetal anomalies v0.1 FOXC1 Rebecca Foulger Added phenotypes IRIDOGONIODYSGENESIS ANOMALY for gene: FOXC1
Fetal anomalies v0.1 FOXC1 Rebecca Foulger Added phenotypes PETERS ANOMALY for gene: FOXC1
Fetal anomalies v0.1 FOXC1 Rebecca Foulger gene: FOXC1 was added
gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3
Fetal anomalies v0.1 FOLR1 Rebecca Foulger gene: FOLR1 was added
gene: FOLR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Fetal anomalies v0.1 FN1 Rebecca Foulger gene: FN1 was added
gene: FN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures
Fetal anomalies v0.1 FMR1 Rebecca Foulger Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 for gene: FMR1
Fetal anomalies v0.1 FMR1 Rebecca Foulger Added phenotypes FRAGILE X SYNDROME for gene: FMR1
Fetal anomalies v0.1 FMR1 Rebecca Foulger gene: FMR1 was added
gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FMR1 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: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME
Fetal anomalies v0.1 FMN2 Rebecca Foulger gene: FMN2 was added
gene: FMN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Fetal anomalies v0.1 FLVCR2 Rebecca Foulger gene: FLVCR2 was added
gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Fetal anomalies v0.1 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Fetal anomalies v0.1 FLT4 Rebecca Foulger gene: FLT4 was added
gene: FLT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FLT4 were set to MILROY DISEASE
Fetal anomalies v0.1 FLRT3 Rebecca Foulger gene: FLRT3 was added
gene: FLRT3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FLRT3 was set to Unknown
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271
Fetal anomalies v0.1 FLNB Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 1 for gene: FLNB
Fetal anomalies v0.1 FLNB Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 3 for gene: FLNB
Fetal anomalies v0.1 FLNB Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME for gene: FLNB
Fetal anomalies v0.1 FLNB Rebecca Foulger Added phenotypes BOOMERANG DYSPLASIA for gene: FLNB
Fetal anomalies v0.1 FLNB Rebecca Foulger gene: FLNB was added
gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1 for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes FG SYNDROME TYPE 2 for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes MELNICK-NEEDLES SYNDROME for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes TERMINAL OSSEOUS DYSPLASIA for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA
Fetal anomalies v0.1 FLNA Rebecca Foulger gene: FLNA was added
gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLNA 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: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1
Fetal anomalies v0.1 FLAD1 Rebecca Foulger gene: FLAD1 was added
gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Fetal anomalies v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 for gene: FKTN
Fetal anomalies v0.1 FKTN Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1X for gene: FKTN
Fetal anomalies v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 for gene: FKTN
Fetal anomalies v0.1 FKTN Rebecca Foulger gene: FKTN was added
gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4
Fetal anomalies v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 for gene: FKRP
Fetal anomalies v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 for gene: FKRP
Fetal anomalies v0.1 FKRP Rebecca Foulger gene: FKRP was added
gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5
Fetal anomalies v0.1 FKBP14 Rebecca Foulger gene: FKBP14 was added
gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Fetal anomalies v0.1 FIG4 Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME for gene: FIG4
Fetal anomalies v0.1 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Fetal anomalies v0.1 FHL1 Rebecca Foulger gene: FHL1 was added
gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
Fetal anomalies v0.1 FH Rebecca Foulger gene: FH was added
gene: FH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 1 for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes HYPOCHONDROPLASIA for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes ACHONDROPLASIA for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger Added phenotypes MUENKE SYNDROME for gene: FGFR3
Fetal anomalies v0.1 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes ANTLEY-BIXLER SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes JACKSON-WEISS SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger Added phenotypes APERT SYNDROME for gene: FGFR2
Fetal anomalies v0.1 FGFR2 Rebecca Foulger gene: FGFR2 was added
gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME
Fetal anomalies v0.1 FGFR1 Rebecca Foulger Added phenotypes Hartsfield syndrome for gene: FGFR1
Fetal anomalies v0.1 FGFR1 Rebecca Foulger Added phenotypes Encephalocraniocutaneous lipomatosis for gene: FGFR1
Fetal anomalies v0.1 FGFR1 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM for gene: FGFR1
Fetal anomalies v0.1 FGFR1 Rebecca Foulger Added phenotypes PFEIFFER SYNDROME for gene: FGFR1
Fetal anomalies v0.1 FGFR1 Rebecca Foulger Added phenotypes KALLMANN SYNDROME TYPE 2 for gene: FGFR1
Fetal anomalies v0.1 FGFR1 Rebecca Foulger gene: FGFR1 was added
gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA
Fetal anomalies v0.1 FGF9 Rebecca Foulger gene: FGF9 was added
gene: FGF9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3
Fetal anomalies v0.1 FGF8 Rebecca Foulger gene: FGF8 was added
gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Fetal anomalies v0.1 FGF3 Rebecca Foulger gene: FGF3 was added
gene: FGF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA
Fetal anomalies v0.1 FGF17 Rebecca Foulger gene: FGF17 was added
gene: FGF17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FGF17 was set to Unknown
Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Fetal anomalies v0.1 FGF12 Rebecca Foulger gene: FGF12 was added
gene: FGF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 FGF10 Rebecca Foulger gene: FGF10 was added
gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF10 were set to LADD SYNDROME
Fetal anomalies v0.1 FGD4 Rebecca Foulger gene: FGD4 was added
gene: FGD4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311
Fetal anomalies v0.1 FGD1 Rebecca Foulger gene: FGD1 was added
gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
Fetal anomalies v0.1 FEZF1 Rebecca Foulger gene: FEZF1 was added
gene: FEZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA
Fetal anomalies v0.1 FBXL4 Rebecca Foulger gene: FBXL4 was added
gene: FBXL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Fetal anomalies v0.1 FBP1 Rebecca Foulger gene: FBP1 was added
gene: FBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY
Fetal anomalies v0.1 FBN2 Rebecca Foulger gene: FBN2 was added
gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY
Fetal anomalies v0.1 FBN1 Rebecca Foulger Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE for gene: FBN1
Fetal anomalies v0.1 FBN1 Rebecca Foulger Added phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME for gene: FBN1
Fetal anomalies v0.1 FBN1 Rebecca Foulger Added phenotypes MARFAN SYNDROME for gene: FBN1
Fetal anomalies v0.1 FBN1 Rebecca Foulger gene: FBN1 was added
gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBN1 were set to MARFAN SYNDROME
Fetal anomalies v0.1 FBLN5 Rebecca Foulger gene: FBLN5 was added
gene: FBLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa 614434; Cutis laxa 219100
Fetal anomalies v0.1 FAT4 Rebecca Foulger gene: FAT4 was added
gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.1 FAR1 Rebecca Foulger gene: FAR1 was added
gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Fetal anomalies v0.1 FANCM Rebecca Foulger Added phenotypes FANCM-RELATED FANCONI ANEMIA for gene: FANCM
Fetal anomalies v0.1 FANCM Rebecca Foulger gene: FANCM was added
gene: FANCM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to FANCONI ANEMIA
Fetal anomalies v0.1 FANCL Rebecca Foulger Added phenotypes FANCONI ANEMIA for gene: FANCL
Fetal anomalies v0.1 FANCL Rebecca Foulger gene: FANCL was added
gene: FANCL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA
Fetal anomalies v0.1 FANCI Rebecca Foulger Added phenotypes FANCONI ANEMIA for gene: FANCI
Fetal anomalies v0.1 FANCI Rebecca Foulger gene: FANCI was added
gene: FANCI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA
Fetal anomalies v0.1 FANCG Rebecca Foulger gene: FANCG was added
gene: FANCG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G
Fetal anomalies v0.1 FANCF Rebecca Foulger gene: FANCF was added
gene: FANCF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F
Fetal anomalies v0.1 FANCE Rebecca Foulger gene: FANCE was added
gene: FANCE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E
Fetal anomalies v0.1 FANCD2 Rebecca Foulger gene: FANCD2 was added
gene: FANCD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Fetal anomalies v0.1 FANCC Rebecca Foulger gene: FANCC was added
gene: FANCC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C
Fetal anomalies v0.1 FANCB Rebecca Foulger gene: FANCB was added
gene: FANCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA
Fetal anomalies v0.1 FANCA Rebecca Foulger gene: FANCA was added
gene: FANCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A
Fetal anomalies v0.1 FAM20C Rebecca Foulger gene: FAM20C was added
gene: FAM20C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to RAINE SYNDROME
Fetal anomalies v0.1 FAM20A Rebecca Foulger gene: FAM20A was added
gene: FAM20A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME
Fetal anomalies v0.1 FAM161A Rebecca Foulger gene: FAM161A was added
gene: FAM161A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28
Fetal anomalies v0.1 FAM126A Rebecca Foulger gene: FAM126A was added
gene: FAM126A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Fetal anomalies v0.1 FAM111A Rebecca Foulger gene: FAM111A was added
gene: FAM111A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME
Fetal anomalies v0.1 FAH Rebecca Foulger gene: FAH was added
gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1
Fetal anomalies v0.1 EZH2 Rebecca Foulger gene: EZH2 was added
gene: EZH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2
Fetal anomalies v0.1 EYA1 Rebecca Foulger gene: EYA1 was added
gene: EYA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1
Fetal anomalies v0.1 EXT2 Rebecca Foulger gene: EXT2 was added
gene: EXT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2
Fetal anomalies v0.1 EXT1 Rebecca Foulger Added phenotypes TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 for gene: EXT1
Fetal anomalies v0.1 EXT1 Rebecca Foulger gene: EXT1 was added
gene: EXT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1
Fetal anomalies v0.1 EXPH5 Rebecca Foulger gene: EXPH5 was added
gene: EXPH5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY
Fetal anomalies v0.1 EXOSC3 Rebecca Foulger gene: EXOSC3 was added
gene: EXOSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.1 EVC2 Rebecca Foulger Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE for gene: EVC2
Fetal anomalies v0.1 EVC2 Rebecca Foulger gene: EVC2 was added
gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME
Fetal anomalies v0.1 EVC Rebecca Foulger Added phenotypes ELLIS-VAN CREVELD SYNDROME for gene: EVC
Fetal anomalies v0.1 EVC Rebecca Foulger gene: EVC was added
gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE
Fetal anomalies v0.1 ETHE1 Rebecca Foulger gene: ETHE1 was added
gene: ETHE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY
Fetal anomalies v0.1 ETFDH Rebecca Foulger gene: ETFDH was added
gene: ETFDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C
Fetal anomalies v0.1 ETFB Rebecca Foulger gene: ETFB was added
gene: ETFB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B
Fetal anomalies v0.1 ETFA Rebecca Foulger gene: ETFA was added
gene: ETFA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A
Fetal anomalies v0.1 ESCO2 Rebecca Foulger Added phenotypes ROBERTS SYNDROME for gene: ESCO2
Fetal anomalies v0.1 ESCO2 Rebecca Foulger gene: ESCO2 was added
gene: ESCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME
Fetal anomalies v0.1 ERF Rebecca Foulger Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF
Fetal anomalies v0.1 ERF Rebecca Foulger gene: ERF was added
gene: ERF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS
Fetal anomalies v0.1 ERCC8 Rebecca Foulger gene: ERCC8 was added
gene: ERCC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A
Fetal anomalies v0.1 ERCC6L2 Rebecca Foulger gene: ERCC6L2 was added
gene: ERCC6L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2
Fetal anomalies v0.1 ERCC6 Rebecca Foulger Added phenotypes UV-SENSITIVE SYNDROME for gene: ERCC6
Fetal anomalies v0.1 ERCC6 Rebecca Foulger Added phenotypes CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 for gene: ERCC6
Fetal anomalies v0.1 ERCC6 Rebecca Foulger Added phenotypes COCKAYNE SYNDROME TYPE B for gene: ERCC6
Fetal anomalies v0.1 ERCC6 Rebecca Foulger gene: ERCC6 was added
gene: ERCC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME
Fetal anomalies v0.1 ERCC5 Rebecca Foulger gene: ERCC5 was added
gene: ERCC5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G
Fetal anomalies v0.1 ERCC4 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM, GROUP F for gene: ERCC4
Fetal anomalies v0.1 ERCC4 Rebecca Foulger Added phenotypes XFE PROGEROID SYNDROME for gene: ERCC4
Fetal anomalies v0.1 ERCC4 Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM for gene: ERCC4
Fetal anomalies v0.1 ERCC4 Rebecca Foulger gene: ERCC4 was added
gene: ERCC4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Fetal anomalies v0.1 ERCC3 Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE for gene: ERCC3
Fetal anomalies v0.1 ERCC3 Rebecca Foulger gene: ERCC3 was added
gene: ERCC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B
Fetal anomalies v0.1 ERCC2 Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE for gene: ERCC2
Fetal anomalies v0.1 ERCC2 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D for gene: ERCC2
Fetal anomalies v0.1 ERCC2 Rebecca Foulger gene: ERCC2 was added
gene: ERCC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2
Fetal anomalies v0.1 ERCC1 Rebecca Foulger Added phenotypes CEREBROOCULOFACIOSKELETAL SYNDROME 4 for gene: ERCC1
Fetal anomalies v0.1 ERCC1 Rebecca Foulger gene: ERCC1 was added
gene: ERCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA
Fetal anomalies v0.1 EPHX1 Rebecca Foulger Added phenotypes ?Fetal hydantoin syndrome for gene: EPHX1
Fetal anomalies v0.1 EPHX1 Rebecca Foulger Added phenotypes Hypercholanemia, familial for gene: EPHX1
Fetal anomalies v0.1 EPHX1 Rebecca Foulger gene: EPHX1 was added
gene: EPHX1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity
Fetal anomalies v0.1 EPHB4 Rebecca Foulger gene: EPHB4 was added
gene: EPHB4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 27400125
Phenotypes for gene: EPHB4 were set to hydrops fetalis gene
Fetal anomalies v0.1 EPG5 Rebecca Foulger gene: EPG5 was added
gene: EPG5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Fetal anomalies v0.1 EP300 Rebecca Foulger gene: EP300 was added
gene: EP300 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2
Fetal anomalies v0.1 EOGT Rebecca Foulger gene: EOGT was added
gene: EOGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME
Fetal anomalies v0.1 ENPP1 Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 for gene: ENPP1
Fetal anomalies v0.1 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
Fetal anomalies v0.1 EMG1 Rebecca Foulger Source PAGE Additional Gene List was added to EMG1.
Added phenotypes Bowen-Conradi syndrome 211180 for gene: EMG1
Fetal anomalies v0.1 EMG1 Rebecca Foulger gene: EMG1 was added
gene: EMG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome
Fetal anomalies v0.1 EMD Rebecca Foulger gene: EMD was added
gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Fetal anomalies v0.1 EMC1 Rebecca Foulger Added phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. for gene: EMC1
Fetal anomalies v0.1 EMC1 Rebecca Foulger gene: EMC1 was added
gene: EMC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Fetal anomalies v0.1 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Fetal anomalies v0.1 ELN Rebecca Foulger Added phenotypes SUPRAVALVAR AORTIC STENOSIS for gene: ELN
Fetal anomalies v0.1 ELN Rebecca Foulger gene: ELN was added
gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA
Fetal anomalies v0.1 ELMO2 Rebecca Foulger gene: ELMO2 was added
gene: ELMO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation
Fetal anomalies v0.1 ELAC2 Rebecca Foulger gene: ELAC2 was added
gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Fetal anomalies v0.1 EIF4A3 Rebecca Foulger gene: EIF4A3 was added
gene: EIF4A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME
Fetal anomalies v0.1 EIF2S3 Rebecca Foulger gene: EIF2S3 was added
gene: EIF2S3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly
Fetal anomalies v0.1 EIF2B3 Rebecca Foulger gene: EIF2B3 was added
gene: EIF2B3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B3 were set to 28597716
Phenotypes for gene: EIF2B3 were set to vanishing white matter disease 603896
Fetal anomalies v0.1 EIF2AK3 Rebecca Foulger gene: EIF2AK3 was added
gene: EIF2AK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME
Fetal anomalies v0.1 EHMT1 Rebecca Foulger gene: EHMT1 was added
gene: EHMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME
Fetal anomalies v0.1 EGR2 Rebecca Foulger gene: EGR2 was added
gene: EGR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
Fetal anomalies v0.1 EFTUD2 Rebecca Foulger gene: EFTUD2 was added
gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
Fetal anomalies v0.1 EFNB1 Rebecca Foulger gene: EFNB1 was added
gene: EFNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EFNB1 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: EFNB1 were set to CRANIOFRONTONASAL SYNDROME
Fetal anomalies v0.1 EEF1A2 Rebecca Foulger gene: EEF1A2 was added
gene: EEF1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 EED Rebecca Foulger gene: EED was added
gene: EED was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome
Fetal anomalies v0.1 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRB were set to ABCD SYNDROME
Fetal anomalies v0.1 EDNRA Rebecca Foulger gene: EDNRA was added
gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Fetal anomalies v0.1 EDN1 Rebecca Foulger Added phenotypes AURICULOCONDYLAR SYNDROME for gene: EDN1
Fetal anomalies v0.1 EDN1 Rebecca Foulger gene: EDN1 was added
gene: EDN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME
Fetal anomalies v0.1 EDAR Rebecca Foulger gene: EDAR was added
gene: EDAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EDAR was set to Unknown
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Fetal anomalies v0.1 EDA Rebecca Foulger Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 for gene: EDA
Fetal anomalies v0.1 EDA Rebecca Foulger gene: EDA was added
gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1
Fetal anomalies v0.1 ECEL1 Rebecca Foulger gene: ECEL1 was added
gene: ECEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D
Fetal anomalies v0.1 EBP Rebecca Foulger gene: EBP was added
gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Fetal anomalies v0.1 EBF3 Rebecca Foulger gene: EBF3 was added
gene: EBF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism
Fetal anomalies v0.1 DYRK1A Rebecca Foulger gene: DYRK1A was added
gene: DYRK1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Fetal anomalies v0.1 DYNC2H1 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 for gene: DYNC2H1
Fetal anomalies v0.1 DYNC2H1 Rebecca Foulger gene: DYNC2H1 was added
gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3
Fetal anomalies v0.1 DYNC1H1 Rebecca Foulger Added phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER for gene: DYNC1H1
Fetal anomalies v0.1 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Fetal anomalies v0.1 DYM Rebecca Foulger Added phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME for gene: DYM
Fetal anomalies v0.1 DYM Rebecca Foulger gene: DYM was added
gene: DYM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA
Fetal anomalies v0.1 DVL3 Rebecca Foulger gene: DVL3 was added
gene: DVL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.1 DVL1 Rebecca Foulger gene: DVL1 was added
gene: DVL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Fetal anomalies v0.1 DUSP6 Rebecca Foulger gene: DUSP6 was added
gene: DUSP6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: DUSP6 was set to Unknown
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269
Fetal anomalies v0.1 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
Fetal anomalies v0.1 DSPP Rebecca Foulger Added phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II for gene: DSPP
Fetal anomalies v0.1 DSPP Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 for gene: DSPP
Fetal anomalies v0.1 DSPP Rebecca Foulger gene: DSPP was added
gene: DSPP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1
Fetal anomalies v0.1 DSP Rebecca Foulger Added phenotypes Skin fragility-woolly hair syndrome 607655 for gene: DSP
Fetal anomalies v0.1 DSP Rebecca Foulger Added phenotypes Keratosis palmoplantaris striata II, 612908 for gene: DSP
Fetal anomalies v0.1 DSP Rebecca Foulger Added phenotypes Epidermolysis bullosa, lethal acantholytic 609638 for gene: DSP
Fetal anomalies v0.1 DSP Rebecca Foulger Added phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821 for gene: DSP
Fetal anomalies v0.1 DSP Rebecca Foulger Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma 605676 for gene: DSP
Fetal anomalies v0.1 DSP Rebecca Foulger gene: DSP was added
gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450
Fetal anomalies v0.1 DSG1 Rebecca Foulger gene: DSG1 was added
gene: DSG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
Fetal anomalies v0.1 DRC1 Rebecca Foulger gene: DRC1 was added
gene: DRC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA
Fetal anomalies v0.1 DPM3 Rebecca Foulger gene: DPM3 was added
gene: DPM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM3 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O
Fetal anomalies v0.1 DPM1 Rebecca Foulger gene: DPM1 was added
gene: DPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 DPF2 Rebecca Foulger gene: DPF2 was added
gene: DPF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DPF2 were set to Coffin Siris like disorder
Fetal anomalies v0.1 DPAGT1 Rebecca Foulger Added phenotypes DPAGT1-CDG for gene: DPAGT1
Fetal anomalies v0.1 DPAGT1 Rebecca Foulger gene: DPAGT1 was added
gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
Fetal anomalies v0.1 DOLK Rebecca Foulger gene: DOLK was added
gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.1 DOCK8 Rebecca Foulger gene: DOCK8 was added
gene: DOCK8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 DOCK7 Rebecca Foulger gene: DOCK7 was added
gene: DOCK7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
Fetal anomalies v0.1 DOCK6 Rebecca Foulger gene: DOCK6 was added
gene: DOCK6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2
Fetal anomalies v0.1 DNMT3B Rebecca Foulger gene: DNMT3B was added
gene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Fetal anomalies v0.1 DNMT3A Rebecca Foulger gene: DNMT3A was added
gene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.1 DNM1 Rebecca Foulger gene: DNM1 was added
gene: DNM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 DNAJC19 Rebecca Foulger gene: DNAJC19 was added
gene: DNAJC19 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198
Fetal anomalies v0.1 DNAJC12 Rebecca Foulger gene: DNAJC12 was added
gene: DNAJC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Fetal anomalies v0.1 DNAI1 Rebecca Foulger gene: DNAI1 was added
gene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400
Fetal anomalies v0.1 DNAH5 Rebecca Foulger Source PAGE Additional Gene List was added to DNAH5.
Added phenotypes Primary ciliary dyskinesia 608644 for gene: DNAH5
Fetal anomalies v0.1 DNAH5 Rebecca Foulger gene: DNAH5 was added
gene: DNAH5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3
Fetal anomalies v0.1 DNAH11 Rebecca Foulger gene: DNAH11 was added
gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884
Fetal anomalies v0.1 DNAAF5 Rebecca Foulger gene: DNAAF5 was added
gene: DNAAF5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18
Fetal anomalies v0.1 DNAAF4 Rebecca Foulger gene: DNAAF4 was added
gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
Fetal anomalies v0.1 DNAAF3 Rebecca Foulger gene: DNAAF3 was added
gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA
Fetal anomalies v0.1 DNAAF1 Rebecca Foulger gene: DNAAF1 was added
gene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193
Fetal anomalies v0.1 DMPK Rebecca Foulger gene: DMPK was added
gene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1
Fetal anomalies v0.1 DMP1 Rebecca Foulger gene: DMP1 was added
gene: DMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR
Fetal anomalies v0.1 DLL4 Rebecca Foulger gene: DLL4 was added
gene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6
Fetal anomalies v0.1 DLL3 Rebecca Foulger gene: DLL3 was added
gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1
Fetal anomalies v0.1 DLG4 Rebecca Foulger gene: DLG4 was added
gene: DLG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability
Fetal anomalies v0.1 DLG3 Rebecca Foulger gene: DLG3 was added
gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90
Fetal anomalies v0.1 DLD Rebecca Foulger Added phenotypes LEIGH SYNDROME for gene: DLD
Fetal anomalies v0.1 DLD Rebecca Foulger gene: DLD was added
gene: DLD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Fetal anomalies v0.1 DLAT Rebecca Foulger gene: DLAT was added
gene: DLAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY
Fetal anomalies v0.1 DKC1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1
Fetal anomalies v0.1 DKC1 Rebecca Foulger gene: DKC1 was added
gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA
Fetal anomalies v0.1 DIS3L2 Rebecca Foulger gene: DIS3L2 was added
gene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME
Fetal anomalies v0.1 DHX30 Rebecca Foulger gene: DHX30 was added
gene: DHX30 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder
Fetal anomalies v0.1 DHTKD1 Rebecca Foulger gene: DHTKD1 was added
gene: DHTKD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Fetal anomalies v0.1 DHODH Rebecca Foulger gene: DHODH was added
gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS
Fetal anomalies v0.1 DHH Rebecca Foulger Added phenotypes 46XY sex reversal 7 for gene: DHH
Fetal anomalies v0.1 DHH Rebecca Foulger gene: DHH was added
gene: DHH was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy
Fetal anomalies v0.1 DHFR Rebecca Foulger gene: DHFR was added
gene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.1 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 DHCR7 Rebecca Foulger gene: DHCR7 was added
gene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME
Fetal anomalies v0.1 DHCR24 Rebecca Foulger gene: DHCR24 was added
gene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS
Fetal anomalies v0.1 DEPDC5 Rebecca Foulger gene: DEPDC5 was added
gene: DEPDC5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI
Fetal anomalies v0.1 DENND5A Rebecca Foulger gene: DENND5A was added
gene: DENND5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 DEAF1 Rebecca Foulger Added phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy for gene: DEAF1
Fetal anomalies v0.1 DEAF1 Rebecca Foulger gene: DEAF1 was added
gene: DEAF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
Fetal anomalies v0.1 DDX6 Rebecca Foulger gene: DDX6 was added
gene: DDX6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 DDX59 Rebecca Foulger gene: DDX59 was added
gene: DDX59 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME
Fetal anomalies v0.1 DDX3X Rebecca Foulger Added phenotypes INTELLECTUAL DIABILITY for gene: DDX3X
Fetal anomalies v0.1 DDX3X Rebecca Foulger gene: DDX3X was added
gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY
Fetal anomalies v0.1 DDX11 Rebecca Foulger gene: DDX11 was added
gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME
Fetal anomalies v0.1 DDR2 Rebecca Foulger gene: DDR2 was added
gene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
Fetal anomalies v0.1 DDOST Rebecca Foulger gene: DDOST was added
gene: DDOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR
Fetal anomalies v0.1 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.1 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.1 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY
Fetal anomalies v0.1 DDB2 Rebecca Foulger gene: DDB2 was added
gene: DDB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE
Fetal anomalies v0.1 DCX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 1 for gene: DCX
Fetal anomalies v0.1 DCX Rebecca Foulger gene: DCX was added
gene: DCX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED
Fetal anomalies v0.1 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
Fetal anomalies v0.1 DCDC2 Rebecca Foulger gene: DCDC2 was added
gene: DCDC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY
Fetal anomalies v0.1 DCC Rebecca Foulger gene: DCC was added
gene: DCC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
Fetal anomalies v0.1 DBT Rebecca Foulger gene: DBT was added
gene: DBT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ
Fetal anomalies v0.1 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
Fetal anomalies v0.1 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Fetal anomalies v0.1 DAG1 Rebecca Foulger gene: DAG1 was added
gene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
Fetal anomalies v0.1 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.1 CYP21A2 Rebecca Foulger Added phenotypes Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency for gene: CYP21A2
Fetal anomalies v0.1 CYP21A2 Rebecca Foulger gene: CYP21A2 was added
gene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Fetal anomalies v0.1 CYP1B1 Rebecca Foulger gene: CYP1B1 was added
gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A
Fetal anomalies v0.1 CYP19A1 Rebecca Foulger Added phenotypes Aromatase excess syndrome 139300 for gene: CYP19A1
Fetal anomalies v0.1 CYP19A1 Rebecca Foulger gene: CYP19A1 was added
gene: CYP19A1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: CYP19A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546
Fetal anomalies v0.1 CYP17A1 Rebecca Foulger Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency for gene: CYP17A1
Fetal anomalies v0.1 CYP17A1 Rebecca Foulger gene: CYP17A1 was added
gene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated
Fetal anomalies v0.1 CYP11B1 Rebecca Foulger Added phenotypes Aldosteronism, glucocorticoid-remediable 103900 for gene: CYP11B1
Fetal anomalies v0.1 CYP11B1 Rebecca Foulger gene: CYP11B1 was added
gene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010
Fetal anomalies v0.1 CYP11A1 Rebecca Foulger gene: CYP11A1 was added
gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
Fetal anomalies v0.1 CYC1 Rebecca Foulger gene: CYC1 was added
gene: CYC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Fetal anomalies v0.1 CYB5R3 Rebecca Foulger gene: CYB5R3 was added
gene: CYB5R3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Fetal anomalies v0.1 CWC27 Rebecca Foulger gene: CWC27 was added
gene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability
Fetal anomalies v0.1 CUX2 Rebecca Foulger gene: CUX2 was added
gene: CUX2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy
Fetal anomalies v0.1 CUL7 Rebecca Foulger gene: CUL7 was added
gene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1
Fetal anomalies v0.1 CUL4B Rebecca Foulger gene: CUL4B was added
gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
Fetal anomalies v0.1 CTSK Rebecca Foulger gene: CTSK was added
gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS
Fetal anomalies v0.1 CTSD Rebecca Foulger gene: CTSD was added
gene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10
Fetal anomalies v0.1 CTSA Rebecca Foulger gene: CTSA was added
gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS
Fetal anomalies v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE for gene: CTNS
Fetal anomalies v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS NEPHROPATHIC TYPE for gene: CTNS
Fetal anomalies v0.1 CTNS Rebecca Foulger gene: CTNS was added
gene: CTNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE
Fetal anomalies v0.1 CTNND1 Rebecca Foulger gene: CTNND1 was added
gene: CTNND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.1 CTNNB1 Rebecca Foulger gene: CTNNB1 was added
gene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Fetal anomalies v0.1 CTDP1 Rebecca Foulger gene: CTDP1 was added
gene: CTDP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
Fetal anomalies v0.1 CTCF Rebecca Foulger gene: CTCF was added
gene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CTC1 Rebecca Foulger gene: CTC1 was added
gene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Fetal anomalies v0.1 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE
Fetal anomalies v0.1 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
Fetal anomalies v0.1 CSPP1 Rebecca Foulger gene: CSPP1 was added
gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Fetal anomalies v0.1 CSNK2A1 Rebecca Foulger gene: CSNK2A1 was added
gene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome
Fetal anomalies v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT for gene: CRYGD
Fetal anomalies v0.1 CRYGD Rebecca Foulger gene: CRYGD was added
gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGD were set to CATARACT CONGENITAL CERULEAN TYPE 3
Fetal anomalies v0.1 CRYGC Rebecca Foulger gene: CRYGC was added
gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT
Fetal anomalies v0.1 CRYBB3 Rebecca Foulger gene: CRYBB3 was added
gene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
Fetal anomalies v0.1 CRYBB2 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 for gene: CRYBB2
Fetal anomalies v0.1 CRYBB2 Rebecca Foulger gene: CRYBB2 was added
gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE
Fetal anomalies v0.1 CRYBB1 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 for gene: CRYBB1
Fetal anomalies v0.1 CRYBB1 Rebecca Foulger gene: CRYBB1 was added
gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
Fetal anomalies v0.1 CRYBA4 Rebecca Foulger gene: CRYBA4 was added
gene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2
Fetal anomalies v0.1 CRYBA1 Rebecca Foulger gene: CRYBA1 was added
gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES
Fetal anomalies v0.1 CRYAA Rebecca Foulger Added phenotypes CATARACT, NUCLEAR for gene: CRYAA
Fetal anomalies v0.1 CRYAA Rebecca Foulger gene: CRYAA was added
gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
Fetal anomalies v0.1 CRX Rebecca Foulger gene: CRX was added
gene: CRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7
Fetal anomalies v0.1 CRTAP Rebecca Foulger gene: CRTAP was added
gene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682
Fetal anomalies v0.1 CRLF1 Rebecca Foulger gene: CRLF1 was added
gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430
Fetal anomalies v0.1 CRELD1 Rebecca Foulger gene: CRELD1 was added
gene: CRELD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME
Fetal anomalies v0.1 CREBBP Rebecca Foulger Added phenotypes CREBBP intellectual disability without typical RTS features for gene: CREBBP
Fetal anomalies v0.1 CREBBP Rebecca Foulger gene: CREBBP was added
gene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1
Fetal anomalies v0.1 CRB2 Rebecca Foulger gene: CRB2 was added
gene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Fetal anomalies v0.1 CRB1 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS 8 for gene: CRB1
Fetal anomalies v0.1 CRB1 Rebecca Foulger gene: CRB1 was added
gene: CRB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 CRADD Rebecca Foulger gene: CRADD was added
gene: CRADD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly
Fetal anomalies v0.1 CPT2 Rebecca Foulger Added phenotypes Myopathy due to CPT II deficiency 255110 for gene: CPT2
Fetal anomalies v0.1 CPT2 Rebecca Foulger Added phenotypes CPT II deficiency, lethal neonatal 608836 for gene: CPT2
Fetal anomalies v0.1 CPT2 Rebecca Foulger gene: CPT2 was added
gene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649
Fetal anomalies v0.1 CPS1 Rebecca Foulger gene: CPS1 was added
gene: CPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
Fetal anomalies v0.1 C5orf42 Rebecca Foulger gene: C5orf42 was added
gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME
Fetal anomalies v0.1 CPAMD8 Rebecca Foulger gene: CPAMD8 was added
gene: CPAMD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis
Fetal anomalies v0.1 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Fetal anomalies v0.1 COX6B1 Rebecca Foulger gene: COX6B1 was added
gene: COX6B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 COX15 Rebecca Foulger Added phenotypes LEIGH SYNDROME for gene: COX15
Fetal anomalies v0.1 COX15 Rebecca Foulger gene: COX15 was added
gene: COX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 COX10 Rebecca Foulger Added phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: COX10
Fetal anomalies v0.1 COX10 Rebecca Foulger gene: COX10 was added
gene: COX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to LEIGH SYNDROME
Fetal anomalies v0.1 COQ9 Rebecca Foulger gene: COQ9 was added
gene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.1 COQ8A Rebecca Foulger gene: COQ8A was added
gene: COQ8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.1 COQ4 Rebecca Foulger gene: COQ4 was added
gene: COQ4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7
Fetal anomalies v0.1 COQ2 Rebecca Foulger gene: COQ2 was added
gene: COQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.1 COMP Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 for gene: COMP
Fetal anomalies v0.1 COMP Rebecca Foulger gene: COMP was added
gene: COMP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA
Fetal anomalies v0.1 COLEC11 Rebecca Foulger gene: COLEC11 was added
gene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2
Fetal anomalies v0.1 COLEC10 Rebecca Foulger gene: COLEC10 was added
gene: COLEC10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC10 were set to 3MC
Fetal anomalies v0.1 COL9A3 Rebecca Foulger gene: COL9A3 was added
gene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3
Fetal anomalies v0.1 COL9A2 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 for gene: COL9A2
Fetal anomalies v0.1 COL9A2 Rebecca Foulger gene: COL9A2 was added
gene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V
Fetal anomalies v0.1 COL9A1 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 for gene: COL9A1
Fetal anomalies v0.1 COL9A1 Rebecca Foulger gene: COL9A1 was added
gene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4
Fetal anomalies v0.1 COL6A3 Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 for gene: COL6A3
Fetal anomalies v0.1 COL6A3 Rebecca Foulger gene: COL6A3 was added
gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to DYSTONIA 27
Fetal anomalies v0.1 COL6A2 Rebecca Foulger Added phenotypes Ullrich congenital muscular dystrophy 1 254090 for gene: COL6A2
Fetal anomalies v0.1 COL6A2 Rebecca Foulger gene: COL6A2 was added
gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810
Fetal anomalies v0.1 COL6A1 Rebecca Foulger gene: COL6A1 was added
gene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy
Fetal anomalies v0.1 COL5A2 Rebecca Foulger gene: COL5A2 was added
gene: COL5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type 130000
Fetal anomalies v0.1 COL5A1 Rebecca Foulger gene: COL5A1 was added
gene: COL5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type 130000
Fetal anomalies v0.1 COL4A4 Rebecca Foulger gene: COL4A4 was added
gene: COL4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 COL4A3BP Rebecca Foulger gene: COL4A3BP was added
gene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 COL4A3 Rebecca Foulger Added phenotypes ALPORT SYNDROME AUTOSOMAL DOMINANT for gene: COL4A3
Fetal anomalies v0.1 COL4A3 Rebecca Foulger gene: COL4A3 was added
gene: COL4A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 COL4A2 Rebecca Foulger gene: COL4A2 was added
gene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2
Fetal anomalies v0.1 COL4A1 Rebecca Foulger gene: COL4A1 was added
gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOPERIPHERAL DYSPLASIA for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger Added phenotypes ACHONDROGENESIS TYPE 2 for gene: COL2A1
Fetal anomalies v0.1 COL2A1 Rebecca Foulger gene: COL2A1 was added
gene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA
Fetal anomalies v0.1 COL25A1 Rebecca Foulger gene: COL25A1 was added
gene: COL25A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
Fetal anomalies v0.1 COL1A2 Rebecca Foulger Added phenotypes Osteogenesis imperfecta for gene: COL1A2
Fetal anomalies v0.1 COL1A2 Rebecca Foulger gene: COL1A2 was added
gene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE IIA for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes CAFFEY DISEASE for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE III for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE I for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME TYPE VIIA for gene: COL1A1
Fetal anomalies v0.1 COL1A1 Rebecca Foulger gene: COL1A1 was added
gene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA
Fetal anomalies v0.1 COL18A1 Rebecca Foulger gene: COL18A1 was added
gene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I
Fetal anomalies v0.1 COL13A1 Rebecca Foulger gene: COL13A1 was added
gene: COL13A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19
Fetal anomalies v0.1 COL11A2 Rebecca Foulger Added phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME for gene: COL11A2
Fetal anomalies v0.1 COL11A2 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 3 for gene: COL11A2
Fetal anomalies v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 for gene: COL11A2
Fetal anomalies v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 13 for gene: COL11A2
Fetal anomalies v0.1 COL11A2 Rebecca Foulger gene: COL11A2 was added
gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
Fetal anomalies v0.1 COL11A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME, TYPE II for gene: COL11A1
Fetal anomalies v0.1 COL11A1 Rebecca Foulger gene: COL11A1 was added
gene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS
Fetal anomalies v0.1 COL10A1 Rebecca Foulger gene: COL10A1 was added
gene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA
Fetal anomalies v0.1 COG8 Rebecca Foulger gene: COG8 was added
gene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG8 were set to COG8-CDG
Fetal anomalies v0.1 COG7 Rebecca Foulger gene: COG7 was added
gene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to COG7-CDG
Fetal anomalies v0.1 COG5 Rebecca Foulger gene: COG5 was added
gene: COG5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG5 were set to COG5-CDG
Fetal anomalies v0.1 COG4 Rebecca Foulger gene: COG4 was added
gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to COG4-CDG
Fetal anomalies v0.1 COG1 Rebecca Foulger gene: COG1 was added
gene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to COG1-CDG
Fetal anomalies v0.1 COASY Rebecca Foulger gene: COASY was added
gene: COASY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.1 CNTNAP2 Rebecca Foulger gene: CNTNAP2 was added
gene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
Fetal anomalies v0.1 CNTNAP1 Rebecca Foulger gene: CNTNAP1 was added
gene: CNTNAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Fetal anomalies v0.1 CNOT3 Rebecca Foulger gene: CNOT3 was added
gene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNOT3 were set to CNOT3 syndrome
Fetal anomalies v0.1 CNKSR2 Rebecca Foulger gene: CNKSR2 was added
gene: CNKSR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY
Fetal anomalies v0.1 CLTC Rebecca Foulger gene: CLTC was added
gene: CLTC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CLTC were set to Epilepsy and intellectual disability
Fetal anomalies v0.1 CLPP Rebecca Foulger gene: CLPP was added
gene: CLPP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to PERRAULT SYNDROME
Fetal anomalies v0.1 CLPB Rebecca Foulger gene: CLPB was added
gene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Fetal anomalies v0.1 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Fetal anomalies v0.1 CLN8 Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT for gene: CLN8
Fetal anomalies v0.1 CLN8 Rebecca Foulger gene: CLN8 was added
gene: CLN8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8
Fetal anomalies v0.1 CLN6 Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET for gene: CLN6
Fetal anomalies v0.1 CLN6 Rebecca Foulger gene: CLN6 was added
gene: CLN6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6
Fetal anomalies v0.1 CLN5 Rebecca Foulger gene: CLN5 was added
gene: CLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5
Fetal anomalies v0.1 CLN3 Rebecca Foulger gene: CLN3 was added
gene: CLN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3
Fetal anomalies v0.1 CLMP Rebecca Foulger gene: CLMP was added
gene: CLMP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME
Fetal anomalies v0.1 CLDN19 Rebecca Foulger gene: CLDN19 was added
gene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
Fetal anomalies v0.1 CLCNKB Rebecca Foulger gene: CLCNKB was added
gene: CLCNKB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B
Fetal anomalies v0.1 CLCN7 Rebecca Foulger gene: CLCN7 was added
gene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to CLCN7-RELATED OSTEOPETROSIS
Fetal anomalies v0.1 CKAP2L Rebecca Foulger gene: CKAP2L was added
gene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Fetal anomalies v0.1 CIT Rebecca Foulger gene: CIT was added
gene: CIT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY
Fetal anomalies v0.1 CISD2 Rebecca Foulger gene: CISD2 was added
gene: CISD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2
Fetal anomalies v0.1 CIB2 Rebecca Foulger Added phenotypes NONSYNDROMIC DEAFNESS DFNB48 for gene: CIB2
Fetal anomalies v0.1 CIB2 Rebecca Foulger gene: CIB2 was added
gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J
Fetal anomalies v0.1 CHUK Rebecca Foulger gene: CHUK was added
gene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHUK were set to COCOON SYNDROME
Fetal anomalies v0.1 CHSY1 Rebecca Foulger gene: CHSY1 was added
gene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
Fetal anomalies v0.1 CHST3 Rebecca Foulger gene: CHST3 was added
gene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
Fetal anomalies v0.1 CHST14 Rebecca Foulger gene: CHST14 was added
gene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
Fetal anomalies v0.1 CHRNG Rebecca Foulger gene: CHRNG was added
gene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
Fetal anomalies v0.1 CHRND Rebecca Foulger gene: CHRND was added
gene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290
Fetal anomalies v0.1 CHRNB2 Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT for gene: CHRNB2
Fetal anomalies v0.1 CHRNB2 Rebecca Foulger gene: CHRNB2 was added
gene: CHRNB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
Fetal anomalies v0.1 CHRNA4 Rebecca Foulger gene: CHRNA4 was added
gene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Fetal anomalies v0.1 CHRNA1 Rebecca Foulger gene: CHRNA1 was added
gene: CHRNA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
Fetal anomalies v0.1 CHRDL1 Rebecca Foulger gene: CHRDL1 was added
gene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED
Fetal anomalies v0.1 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY
Fetal anomalies v0.1 CHKB Rebecca Foulger gene: CHKB was added
gene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541
Fetal anomalies v0.1 CHD8 Rebecca Foulger gene: CHD8 was added
gene: CHD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD8 were set to AUTISM
Fetal anomalies v0.1 CHD7 Rebecca Foulger Added phenotypes CHARGE SYNDROME for gene: CHD7
Fetal anomalies v0.1 CHD7 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM for gene: CHD7
Fetal anomalies v0.1 CHD7 Rebecca Foulger gene: CHD7 was added
gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to KALLMANN SYNDROME TYPE 5
Fetal anomalies v0.1 CHD4 Rebecca Foulger gene: CHD4 was added
gene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.1 CHD3 Rebecca Foulger gene: CHD3 was added
gene: CHD3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD3 were set to Apraxia of speech
Fetal anomalies v0.1 CHD2 Rebecca Foulger gene: CHD2 was added
gene: CHD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 CHAT Rebecca Foulger gene: CHAT was added
gene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210
Fetal anomalies v0.1 CHAMP1 Rebecca Foulger gene: CHAMP1 was added
gene: CHAMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CFTR Rebecca Foulger gene: CFTR was added
gene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis 219700
Fetal anomalies v0.1 CFL2 Rebecca Foulger gene: CFL2 was added
gene: CFL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7
Fetal anomalies v0.1 CFC1 Rebecca Foulger gene: CFC1 was added
gene: CFC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS
Fetal anomalies v0.1 C21orf2 Rebecca Foulger gene: C21orf2 was added
gene: C21orf2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia
Fetal anomalies v0.1 C21orf59 Rebecca Foulger gene: C21orf59 was added
gene: C21orf59 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 CEP83 Rebecca Foulger gene: CEP83 was added
gene: CEP83 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CEP63 Rebecca Foulger gene: CEP63 was added
gene: CEP63 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP63 were set to SECKEL SYNDROME 6
Fetal anomalies v0.1 CEP57 Rebecca Foulger gene: CEP57 was added
gene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Fetal anomalies v0.1 CEP41 Rebecca Foulger gene: CEP41 was added
gene: CEP41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15
Fetal anomalies v0.1 CEP290 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 4 for gene: CEP290
Fetal anomalies v0.1 CEP290 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 5 for gene: CEP290
Fetal anomalies v0.1 CEP290 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS TYPE 10 for gene: CEP290
Fetal anomalies v0.1 CEP290 Rebecca Foulger Added phenotypes SENIOR-LOKEN SYNDROME TYPE 6 for gene: CEP290
Fetal anomalies v0.1 CEP290 Rebecca Foulger gene: CEP290 was added
gene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14
Fetal anomalies v0.1 CEP164 Rebecca Foulger gene: CEP164 was added
gene: CEP164 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15 614845
Fetal anomalies v0.1 CEP152 Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 5 for gene: CEP152
Fetal anomalies v0.1 CEP152 Rebecca Foulger gene: CEP152 was added
gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4
Fetal anomalies v0.1 CEP135 Rebecca Foulger gene: CEP135 was added
gene: CEP135 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Fetal anomalies v0.1 CEP104 Rebecca Foulger gene: CEP104 was added
gene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to JOUBERT SYNDROME
Fetal anomalies v0.1 CENPJ Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 4 for gene: CENPJ
Fetal anomalies v0.1 CENPJ Rebecca Foulger gene: CENPJ was added
gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6
Fetal anomalies v0.1 CDT1 Rebecca Foulger gene: CDT1 was added
gene: CDT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4
Fetal anomalies v0.1 CDON Rebecca Foulger gene: CDON was added
gene: CDON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11
Fetal anomalies v0.1 CDKN1C Rebecca Foulger Added phenotypes IMAGe Syndrome for gene: CDKN1C
Fetal anomalies v0.1 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME
Fetal anomalies v0.1 CDKL5 Rebecca Foulger gene: CDKL5 was added
gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
Fetal anomalies v0.1 CDK5RAP2 Rebecca Foulger gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Fetal anomalies v0.1 CDK13 Rebecca Foulger gene: CDK13 was added
gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Fetal anomalies v0.1 CDH3 Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY for gene: CDH3
Fetal anomalies v0.1 CDH3 Rebecca Foulger gene: CDH3 was added
gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to EEM SYNDROME
Fetal anomalies v0.1 CDH1 Rebecca Foulger gene: CDH1 was added
gene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Fetal anomalies v0.1 CDC6 Rebecca Foulger gene: CDC6 was added
gene: CDC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5
Fetal anomalies v0.1 CDC45 Rebecca Foulger gene: CDC45 was added
gene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis
Fetal anomalies v0.1 CDAN1 Rebecca Foulger gene: CDAN1 was added
gene: CDAN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I 224120
Fetal anomalies v0.1 CD96 Rebecca Foulger gene: CD96 was added
gene: CD96 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CD96 were set to C SYNDROME
Fetal anomalies v0.1 CD151 Rebecca Foulger gene: CD151 was added
gene: CD151 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Fetal anomalies v0.1 FAM58A Rebecca Foulger gene: FAM58A was added
gene: FAM58A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FAM58A were set to STAR SYNDROME
Fetal anomalies v0.1 CCNO Rebecca Foulger gene: CCNO was added
gene: CCNO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29
Fetal anomalies v0.1 CCND2 Rebecca Foulger gene: CCND2 was added
gene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Fetal anomalies v0.1 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE
Fetal anomalies v0.1 CCDC8 Rebecca Foulger gene: CCDC8 was added
gene: CCDC8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3
Fetal anomalies v0.1 CCDC78 Rebecca Foulger gene: CCDC78 was added
gene: CCDC78 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES
Fetal anomalies v0.1 CCDC65 Rebecca Foulger gene: CCDC65 was added
gene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 CCDC40 Rebecca Foulger gene: CCDC40 was added
gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15
Fetal anomalies v0.1 CCDC39 Rebecca Foulger gene: CCDC39 was added
gene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14
Fetal anomalies v0.1 CCDC22 Rebecca Foulger gene: CCDC22 was added
gene: CCDC22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CCDC151 Rebecca Foulger gene: CCDC151 was added
gene: CCDC151 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA
Fetal anomalies v0.1 CCDC115 Rebecca Foulger gene: CCDC115 was added
gene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis
Fetal anomalies v0.1 CCDC114 Rebecca Foulger gene: CCDC114 was added
gene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 CCDC103 Rebecca Foulger gene: CCDC103 was added
gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.1 CCBE1 Rebecca Foulger gene: CCBE1 was added
gene: CCBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
Fetal anomalies v0.1 CC2D2A Rebecca Foulger Added phenotypes JOUBERT SYNDROME 9 for gene: CC2D2A
Fetal anomalies v0.1 CC2D2A Rebecca Foulger Added phenotypes COACH SYNDROME for gene: CC2D2A
Fetal anomalies v0.1 CC2D2A Rebecca Foulger gene: CC2D2A was added
gene: CC2D2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6
Fetal anomalies v0.1 CC2D1A Rebecca Foulger gene: CC2D1A was added
gene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.1 CBS Rebecca Foulger gene: CBS was added
gene: CBS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Fetal anomalies v0.1 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Fetal anomalies v0.1 CAVIN1 Rebecca Foulger gene: CAVIN1 was added
gene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 613327
Fetal anomalies v0.1 CASK Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS for gene: CASK
Fetal anomalies v0.1 CASK Rebecca Foulger Added phenotypes FG SYNDROME TYPE 4 for gene: CASK
Fetal anomalies v0.1 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED
Fetal anomalies v0.1 CARS2 Rebecca Foulger gene: CARS2 was added
gene: CARS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
Fetal anomalies v0.1 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Fetal anomalies v0.1 CAMK2B Rebecca Foulger gene: CAMK2B was added
gene: CAMK2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CAMK2A Rebecca Foulger gene: CAMK2A was added
gene: CAMK2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 CAD Rebecca Foulger gene: CAD was added
gene: CAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CAD was set to Unknown
Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy
Fetal anomalies v0.1 CACNA1D Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES for gene: CACNA1D
Fetal anomalies v0.1 CACNA1D Rebecca Foulger gene: CACNA1D was added
gene: CACNA1D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
Fetal anomalies v0.1 CACNA1C Rebecca Foulger gene: CACNA1C was added
gene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME
Fetal anomalies v0.1 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.1 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Fetal anomalies v0.1 CA5A Rebecca Foulger gene: CA5A was added
gene: CA5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY
Fetal anomalies v0.1 CA2 Rebecca Foulger gene: CA2 was added
gene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.1 C8orf37 Rebecca Foulger gene: C8orf37 was added
gene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16
Fetal anomalies v0.1 C2CD3 Rebecca Foulger gene: C2CD3 was added
gene: C2CD3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to OROFACIODIGITAL SYNDROME XIV
Fetal anomalies v0.1 C1QBP Rebecca Foulger gene: C1QBP was added
gene: C1QBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Fetal anomalies v0.1 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Fetal anomalies v0.1 C12orf57 Rebecca Foulger gene: C12orf57 was added
gene: C12orf57 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME
Fetal anomalies v0.1 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
Fetal anomalies v0.1 BTD Rebecca Foulger gene: BTD was added
gene: BTD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY
Fetal anomalies v0.1 BSND Rebecca Foulger gene: BSND was added
gene: BSND was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A
Fetal anomalies v0.1 BRWD3 Rebecca Foulger gene: BRWD3 was added
gene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93
Fetal anomalies v0.1 BRPF1 Rebecca Foulger gene: BRPF1 was added
gene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
Fetal anomalies v0.1 BRIP1 Rebecca Foulger gene: BRIP1 was added
gene: BRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J
Fetal anomalies v0.1 BRCA2 Rebecca Foulger gene: BRCA2 was added
gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Fetal anomalies v0.1 BRCA1 Rebecca Foulger gene: BRCA1 was added
gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 BRAT1 Rebecca Foulger gene: BRAT1 was added
gene: BRAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Fetal anomalies v0.1 BRAF Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME for gene: BRAF
Fetal anomalies v0.1 BRAF Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 for gene: BRAF
Fetal anomalies v0.1 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7
Fetal anomalies v0.1 BPTF Rebecca Foulger gene: BPTF was added
gene: BPTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Fetal anomalies v0.1 BOLA3 Rebecca Foulger gene: BOLA3 was added
gene: BOLA3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Fetal anomalies v0.1 BMPR1B Rebecca Foulger gene: BMPR1B was added
gene: BMPR1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to BRACHYDACTYLY TYPE A2
Fetal anomalies v0.1 BMPER Rebecca Foulger gene: BMPER was added
gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS
Fetal anomalies v0.1 BMP4 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 6 for gene: BMP4
Fetal anomalies v0.1 BMP4 Rebecca Foulger gene: BMP4 was added
gene: BMP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11
Fetal anomalies v0.1 BMP2 Rebecca Foulger Source PAGE Additional Gene List was added to BMP2.
Added phenotypes Brachydactyly, type A2 112600 for gene: BMP2
Fetal anomalies v0.1 BMP2 Rebecca Foulger gene: BMP2 was added
gene: BMP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
Fetal anomalies v0.1 BMP1 Rebecca Foulger gene: BMP1 was added
gene: BMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 28513615
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta type XIII 614856
Fetal anomalies v0.1 BLOC1S6 Rebecca Foulger gene: BLOC1S6 was added
gene: BLOC1S6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9
Fetal anomalies v0.1 BLM Rebecca Foulger gene: BLM was added
gene: BLM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to BLOOM SYNDROME
Fetal anomalies v0.1 BIN1 Rebecca Foulger gene: BIN1 was added
gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2
Fetal anomalies v0.1 BICD2 Rebecca Foulger gene: BICD2 was added
gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Fetal anomalies v0.1 BHLHA9 Rebecca Foulger Added phenotypes SPLIT HAND AND FOOT MALFORMATION for gene: BHLHA9
Fetal anomalies v0.1 BHLHA9 Rebecca Foulger gene: BHLHA9 was added
gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Fetal anomalies v0.1 BGN Rebecca Foulger gene: BGN was added
gene: BGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia
Fetal anomalies v0.1 BFSP2 Rebecca Foulger gene: BFSP2 was added
gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED
Fetal anomalies v0.1 BCS1L Rebecca Foulger gene: BCS1L was added
gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE SYNDROME
Fetal anomalies v0.1 BCOR Rebecca Foulger gene: BCOR was added
gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2
Fetal anomalies v0.1 BCL11A Rebecca Foulger gene: BCL11A was added
gene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.1 BCKDHB Rebecca Foulger gene: BCKDHB was added
gene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE
Fetal anomalies v0.1 BCKDHA Rebecca Foulger gene: BCKDHA was added
gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE
Fetal anomalies v0.1 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Fetal anomalies v0.1 BBS9 Rebecca Foulger gene: BBS9 was added
gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9
Fetal anomalies v0.1 BBS7 Rebecca Foulger gene: BBS7 was added
gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7
Fetal anomalies v0.1 BBS5 Rebecca Foulger gene: BBS5 was added
gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5
Fetal anomalies v0.1 BBS4 Rebecca Foulger gene: BBS4 was added
gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4
Fetal anomalies v0.1 BBS2 Rebecca Foulger gene: BBS2 was added
gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2
Fetal anomalies v0.1 BBS12 Rebecca Foulger gene: BBS12 was added
gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12
Fetal anomalies v0.1 BBS10 Rebecca Foulger gene: BBS10 was added
gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10
Fetal anomalies v0.1 BBS1 Rebecca Foulger gene: BBS1 was added
gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1
Fetal anomalies v0.1 BANF1 Rebecca Foulger gene: BANF1 was added
gene: BANF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME
Fetal anomalies v0.1 B9D1 Rebecca Foulger gene: B9D1 was added
gene: B9D1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9
Fetal anomalies v0.1 B4GALT7 Rebecca Foulger gene: B4GALT7 was added
gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE
Fetal anomalies v0.1 B3GLCT Rebecca Foulger Added phenotypes PETERS-PLUS SYNDROME 261540 for gene: B3GLCT
Fetal anomalies v0.1 B3GLCT Rebecca Foulger gene: B3GLCT was added
gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 29096039
Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540
Fetal anomalies v0.1 B3GAT3 Rebecca Foulger gene: B3GAT3 was added
gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Fetal anomalies v0.1 B3GALT6 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 for gene: B3GALT6
Fetal anomalies v0.1 B3GALT6 Rebecca Foulger gene: B3GALT6 was added
gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME
Fetal anomalies v0.1 B3GALNT2 Rebecca Foulger gene: B3GALNT2 was added
gene: B3GALNT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
Fetal anomalies v0.1 AUTS2 Rebecca Foulger gene: AUTS2 was added
gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.1 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Fetal anomalies v0.1 ATRX Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE for gene: ATRX
Fetal anomalies v0.1 ATRX Rebecca Foulger gene: ATRX was added
gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
Fetal anomalies v0.1 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1
Fetal anomalies v0.1 ATP8B1 Rebecca Foulger gene: ATP8B1 was added
gene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS
Fetal anomalies v0.1 ATP7A Rebecca Foulger Added phenotypes MENKES DISEASE for gene: ATP7A
Fetal anomalies v0.1 ATP7A Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 for gene: ATP7A
Fetal anomalies v0.1 ATP7A Rebecca Foulger gene: ATP7A was added
gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME
Fetal anomalies v0.1 ATP6V1B2 Rebecca Foulger gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME
Fetal anomalies v0.1 ATP6V1B1 Rebecca Foulger gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
Fetal anomalies v0.1 ATP6V0A2 Rebecca Foulger gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Wrinkly skin syndrome 219200; Cutis laxa, autosomal recessive, type IIA
Fetal anomalies v0.1 ATP1A3 Rebecca Foulger Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD for gene: ATP1A3
Fetal anomalies v0.1 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM
Fetal anomalies v0.1 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9
Fetal anomalies v0.1 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA
Fetal anomalies v0.1 ATIC Rebecca Foulger gene: ATIC was added
gene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATIC were set to AICA-RIBOSURIA
Fetal anomalies v0.1 ATAD3A Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
Fetal anomalies v0.1 ATAD3A Rebecca Foulger gene: ATAD3A was added
gene: ATAD3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
Fetal anomalies v0.1 ASXL3 Rebecca Foulger gene: ASXL3 was added
gene: ASXL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME
Fetal anomalies v0.1 ASXL2 Rebecca Foulger gene: ASXL2 was added
gene: ASXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features
Fetal anomalies v0.1 ASXL1 Rebecca Foulger gene: ASXL1 was added
gene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME
Fetal anomalies v0.1 ASS1 Rebecca Foulger gene: ASS1 was added
gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I
Fetal anomalies v0.1 ASPM Rebecca Foulger gene: ASPM was added
gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Fetal anomalies v0.1 ASPH Rebecca Foulger gene: ASPH was added
gene: ASPH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Fetal anomalies v0.1 ASPA Rebecca Foulger gene: ASPA was added
gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to CANAVAN DISEASE
Fetal anomalies v0.1 ASNS Rebecca Foulger gene: ASNS was added
gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574
Fetal anomalies v0.1 ASL Rebecca Foulger gene: ASL was added
gene: ASL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY
Fetal anomalies v0.1 ASAH1 Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY for gene: ASAH1
Fetal anomalies v0.1 ASAH1 Rebecca Foulger gene: ASAH1 was added
gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS
Fetal anomalies v0.1 ARX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 for gene: ARX
Fetal anomalies v0.1 ARX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 for gene: ARX
Fetal anomalies v0.1 ARX Rebecca Foulger Added phenotypes PARTINGTON SYNDROME for gene: ARX
Fetal anomalies v0.1 ARX Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA for gene: ARX
Fetal anomalies v0.1 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED
Fetal anomalies v0.1 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Fetal anomalies v0.1 ARSB Rebecca Foulger gene: ARSB was added
gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6
Fetal anomalies v0.1 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY
Fetal anomalies v0.1 ARMC9 Rebecca Foulger gene: ARMC9 was added
gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
Fetal anomalies v0.1 ARMC4 Rebecca Foulger gene: ARMC4 was added
gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23
Fetal anomalies v0.1 ARL6 Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 for gene: ARL6
Fetal anomalies v0.1 ARL6 Rebecca Foulger gene: ARL6 was added
gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3
Fetal anomalies v0.1 ARL13B Rebecca Foulger gene: ARL13B was added
gene: ARL13B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8 612291
Fetal anomalies v0.1 ARID2 Rebecca Foulger gene: ARID2 was added
gene: ARID2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder
Fetal anomalies v0.1 ARID1B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 for gene: ARID1B
Fetal anomalies v0.1 ARID1B Rebecca Foulger gene: ARID1B was added
gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME
Fetal anomalies v0.1 ARID1A Rebecca Foulger gene: ARID1A was added
gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME
Fetal anomalies v0.1 ARHGAP31 Rebecca Foulger gene: ARHGAP31 was added
gene: ARHGAP31 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1
Fetal anomalies v0.1 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to ARGININEMIA
Fetal anomalies v0.1 ARFGEF2 Rebecca Foulger gene: ARFGEF2 was added
gene: ARFGEF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
Fetal anomalies v0.1 ARCN1 Rebecca Foulger gene: ARCN1 was added
gene: ARCN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism
Fetal anomalies v0.1 AR Rebecca Foulger Added phenotypes ANDROGEN INSENSITIVITY SYNDROME for gene: AR
Fetal anomalies v0.1 AR Rebecca Foulger gene: AR was added
gene: AR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY
Fetal anomalies v0.1 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1
Fetal anomalies v0.1 APOPT1 Rebecca Foulger gene: APOPT1 was added
gene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.1 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Fetal anomalies v0.1 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3
Fetal anomalies v0.1 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4
Fetal anomalies v0.1 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5
Fetal anomalies v0.1 AP3B2 Rebecca Foulger gene: AP3B2 was added
gene: AP3B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy
Fetal anomalies v0.1 AP3B1 Rebecca Foulger gene: AP3B1 was added
gene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233
Fetal anomalies v0.1 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59
Fetal anomalies v0.1 ANTXR2 Rebecca Foulger gene: ANTXR2 was added
gene: ANTXR2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600
Fetal anomalies v0.1 ANTXR1 Rebecca Foulger gene: ANTXR1 was added
gene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME
Fetal anomalies v0.1 ANOS1 Rebecca Foulger gene: ANOS1 was added
gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Fetal anomalies v0.1 ANO5 Rebecca Foulger Added phenotypes GNATHODIAPHYSEAL DYSPLASIA for gene: ANO5
Fetal anomalies v0.1 ANO5 Rebecca Foulger gene: ANO5 was added
gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3
Fetal anomalies v0.1 ANKRD26 Rebecca Foulger gene: ANKRD26 was added
gene: ANKRD26 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2
Fetal anomalies v0.1 ANKRD11 Rebecca Foulger gene: ANKRD11 was added
gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKRD11 were set to KBG SYNDROME
Fetal anomalies v0.1 ANKH Rebecca Foulger Added phenotypes CHONDROCALCINOSIS 2 for gene: ANKH
Fetal anomalies v0.1 ANKH Rebecca Foulger gene: ANKH was added
gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
Fetal anomalies v0.1 AMT Rebecca Foulger gene: AMT was added
gene: AMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY
Fetal anomalies v0.1 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
Fetal anomalies v0.1 AMER1 Rebecca Foulger gene: AMER1 was added
gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
Fetal anomalies v0.1 ALX4 Rebecca Foulger Added phenotypes PARIETAL FORAMINA 2 for gene: ALX4
Fetal anomalies v0.1 ALX4 Rebecca Foulger gene: ALX4 was added
gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2
Fetal anomalies v0.1 ALX3 Rebecca Foulger gene: ALX3 was added
gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1
Fetal anomalies v0.1 ALX1 Rebecca Foulger gene: ALX1 was added
gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3
Fetal anomalies v0.1 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS
Fetal anomalies v0.1 ALPL Rebecca Foulger gene: ALPL was added
gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA
Fetal anomalies v0.1 ALMS1 Rebecca Foulger gene: ALMS1 was added
gene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME
Fetal anomalies v0.1 ALG9 Rebecca Foulger gene: ALG9 was added
gene: ALG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to ALG9-CDG
Fetal anomalies v0.1 ALG8 Rebecca Foulger gene: ALG8 was added
gene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to ALG8-CDG
Fetal anomalies v0.1 ALG6 Rebecca Foulger gene: ALG6 was added
gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to ALG6-CDG
Fetal anomalies v0.1 ALG3 Rebecca Foulger gene: ALG3 was added
gene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to ALG3-CDG
Fetal anomalies v0.1 ALG2 Rebecca Foulger gene: ALG2 was added
gene: ALG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to ALG2-CDG
Fetal anomalies v0.1 ALG13 Rebecca Foulger Added phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS for gene: ALG13
Fetal anomalies v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13
Fetal anomalies v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13
Fetal anomalies v0.1 ALG13 Rebecca Foulger gene: ALG13 was added
gene: ALG13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.
Fetal anomalies v0.1 ALG12 Rebecca Foulger gene: ALG12 was added
gene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G
Fetal anomalies v0.1 ALG11 Rebecca Foulger gene: ALG11 was added
gene: ALG11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to ALG11-CDG
Fetal anomalies v0.1 ALG1 Rebecca Foulger gene: ALG1 was added
gene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to ALG1-CDG
Fetal anomalies v0.1 ALDOB Rebecca Foulger gene: ALDOB was added
gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE
Fetal anomalies v0.1 ALDOA Rebecca Foulger gene: ALDOA was added
gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII
Fetal anomalies v0.1 ALDH7A1 Rebecca Foulger gene: ALDH7A1 was added
gene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY
Fetal anomalies v0.1 ALDH5A1 Rebecca Foulger gene: ALDH5A1 was added
gene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 ALDH4A1 Rebecca Foulger gene: ALDH4A1 was added
gene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2
Fetal anomalies v0.1 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME
Fetal anomalies v0.1 ALDH1A3 Rebecca Foulger gene: ALDH1A3 was added
gene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
Fetal anomalies v0.1 ALDH18A1 Rebecca Foulger Added phenotypes CUTIS LAXA, AUTOSOMAL DOMINANT 3 for gene: ALDH18A1
Fetal anomalies v0.1 ALDH18A1 Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES for gene: ALDH18A1
Fetal anomalies v0.1 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
Fetal anomalies v0.1 ALAD Rebecca Foulger gene: ALAD was added
gene: ALAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA
Fetal anomalies v0.1 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3
Fetal anomalies v0.1 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME
Fetal anomalies v0.1 AKR1D1 Rebecca Foulger gene: AKR1D1 was added
gene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
Fetal anomalies v0.1 AK2 Rebecca Foulger gene: AK2 was added
gene: AK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS
Fetal anomalies v0.1 AIRE Rebecca Foulger gene: AIRE was added
gene: AIRE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1
Fetal anomalies v0.1 AIPL1 Rebecca Foulger gene: AIPL1 was added
gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4
Fetal anomalies v0.1 AIMP1 Rebecca Foulger gene: AIMP1 was added
gene: AIMP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3
Fetal anomalies v0.1 AIFM1 Rebecca Foulger Added phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 for gene: AIFM1
Fetal anomalies v0.1 AIFM1 Rebecca Foulger gene: AIFM1 was added
gene: AIFM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME
Fetal anomalies v0.1 AHI1 Rebecca Foulger gene: AHI1 was added
gene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME
Fetal anomalies v0.1 AHDC1 Rebecca Foulger gene: AHDC1 was added
gene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME
Fetal anomalies v0.1 AGXT Rebecca Foulger gene: AGXT was added
gene: AGXT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1
Fetal anomalies v0.1 AGRN Rebecca Foulger gene: AGRN was added
gene: AGRN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial 615120
Fetal anomalies v0.1 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
Fetal anomalies v0.1 AGPAT2 Rebecca Foulger gene: AGPAT2 was added
gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594
Fetal anomalies v0.1 AGL Rebecca Foulger gene: AGL was added
gene: AGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III
Fetal anomalies v0.1 AGK Rebecca Foulger gene: AGK was added
gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to SENGERS SYNDROME
Fetal anomalies v0.1 AGA Rebecca Foulger gene: AGA was added
gene: AGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA
Fetal anomalies v0.1 AFF4 Rebecca Foulger gene: AFF4 was added
gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Fetal anomalies v0.1 AFF3 Rebecca Foulger gene: AFF3 was added
gene: AFF3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease
Fetal anomalies v0.1 AFF2 Rebecca Foulger gene: AFF2 was added
gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME
Fetal anomalies v0.1 ADSL Rebecca Foulger gene: ADSL was added
gene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY
Fetal anomalies v0.1 ADNP Rebecca Foulger gene: ADNP was added
gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
Fetal anomalies v0.1 ADGRG6 Rebecca Foulger gene: ADGRG6 was added
gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Fetal anomalies v0.1 ADGRG1 Rebecca Foulger gene: ADGRG1 was added
gene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA
Fetal anomalies v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE for gene: ADAR
Fetal anomalies v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE for gene: ADAR
Fetal anomalies v0.1 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Fetal anomalies v0.1 ADAMTSL2 Rebecca Foulger gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050
Fetal anomalies v0.1 ADAMTS17 Rebecca Foulger gene: ADAMTS17 was added
gene: ADAMTS17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome 613195
Fetal anomalies v0.1 ADAMTS10 Rebecca Foulger gene: ADAMTS10 was added
gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600
Fetal anomalies v0.1 ADA Rebecca Foulger gene: ADA was added
gene: ADA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY
Fetal anomalies v0.1 ACY1 Rebecca Foulger gene: ACY1 was added
gene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY
Fetal anomalies v0.1 ACVRL1 Rebecca Foulger gene: ACVRL1 was added
gene: ACVRL1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Fetal anomalies v0.1 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Fetal anomalies v0.1 ACTG2 Rebecca Foulger Added phenotypes Visceral myopathy 155310 for gene: ACTG2
Fetal anomalies v0.1 ACTG2 Rebecca Foulger gene: ACTG2 was added
gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were set to Visceral myopathy 155310
Fetal anomalies v0.1 ACTG1 Rebecca Foulger gene: ACTG1 was added
gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Fetal anomalies v0.1 ACTC1 Rebecca Foulger gene: ACTC1 was added
gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 24461919
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794
Fetal anomalies v0.1 ACTB Rebecca Foulger Added phenotypes ACTB Haploinsufficiency syndtome for gene: ACTB
Fetal anomalies v0.1 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME
Fetal anomalies v0.1 ACTA2 Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 for gene: ACTA2
Fetal anomalies v0.1 ACTA2 Rebecca Foulger gene: ACTA2 was added
gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5
Fetal anomalies v0.1 ACTA1 Rebecca Foulger gene: ACTA1 was added
gene: ACTA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3
Fetal anomalies v0.1 ACSL4 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 for gene: ACSL4
Fetal anomalies v0.1 ACSL4 Rebecca Foulger gene: ACSL4 was added
gene: ACSL4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS
Fetal anomalies v0.1 ACP5 Rebecca Foulger gene: ACP5 was added
gene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Fetal anomalies v0.1 ACOX1 Rebecca Foulger gene: ACOX1 was added
gene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL
Fetal anomalies v0.1 ACO2 Rebecca Foulger gene: ACO2 was added
gene: ACO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION
Fetal anomalies v0.1 ACE Rebecca Foulger gene: ACE was added
gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430
Fetal anomalies v0.1 ACAT1 Rebecca Foulger gene: ACAT1 was added
gene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA
Fetal anomalies v0.1 ACAN Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE for gene: ACAN
Fetal anomalies v0.1 ACAN Rebecca Foulger gene: ACAN was added
gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY
Fetal anomalies v0.1 ACADVL Rebecca Foulger gene: ACADVL was added
gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 ACADS Rebecca Foulger gene: ACADS was added
gene: ACADS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 ACADM Rebecca Foulger gene: ACADM was added
gene: ACADM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.1 ACAD9 Rebecca Foulger gene: ACAD9 was added
gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Fetal anomalies v0.1 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations
Fetal anomalies v0.1 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME
Fetal anomalies v0.1 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
Fetal anomalies v0.1 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED
Fetal anomalies v0.1 ABCC9 Rebecca Foulger gene: ABCC9 was added
gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Fetal anomalies v0.1 ABCC8 Rebecca Foulger gene: ABCC8 was added
gene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450
Fetal anomalies v0.1 ABCC6 Rebecca Foulger gene: ABCC6 was added
gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
Fetal anomalies v0.1 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Fetal anomalies v0.1 ABCB11 Rebecca Foulger gene: ABCB11 was added
gene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS
Fetal anomalies v0.1 ABCA12 Rebecca Foulger gene: ABCA12 was added
gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500
Fetal anomalies v0.1 AASS Rebecca Foulger gene: AASS was added
gene: AASS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AASS were set to HYPERLYSINEMIA
Fetal anomalies v0.1 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
Fetal anomalies v0.1 AAAS Rebecca Foulger gene: AAAS was added
gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Classified gene: MAPK10 as Red List (low evidence)
Early onset or syndromic epilepsy v0.675 MAPK10 Sarah Leigh Gene: mapk10 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.674 MAPK10 Sarah Leigh Publications for gene: MAPK10 were set to PMID: 23329067
Early onset or syndromic epilepsy v0.673 CHD2 Sarah Leigh Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, childhood-onset 615369
Early onset or syndromic epilepsy v0.672 ARX Sarah Leigh Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 308350; Hydranencephaly with abnormal genitalia 300215; Lissencephaly, X-linked 2 300215; Mental retardation, X-linked 29 and others 300419; Partington syndrome 309510; Proud syndrome 300004
Early onset or syndromic epilepsy v0.671 ARHGEF9 Sarah Leigh Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8 300607
Early onset or syndromic epilepsy v0.670 ALDH7A1 Sarah Leigh Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent 266100
Early onset or syndromic epilepsy v0.669 PIK3R2 Sarah Leigh Mode of inheritance for gene: PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Marked gene: SMARCA2 as ready
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Classified gene: SMARCA2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.668 SMARCA2 Sarah Leigh Gene: smarca2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.667 SMARCA2 Sarah Leigh gene: SMARCA2 was added
gene: SMARCA2 was added to Genetic Epilepsy Syndromes. Sources: Expert list
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCA2 were set to 22366787
Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome 601358
Review for gene: SMARCA2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. In PMID 22366787 22/35 Nicolaides-Baraitser syndrome cases with SMARCA2 variant had seizures as part of their phenotype.
Gene provided by Ian Berry, Leeds
Sources: Expert list
Early onset or syndromic epilepsy v0.666 CREBBP Sarah Leigh Classified gene: CREBBP as Green List (high evidence)
Early onset or syndromic epilepsy v0.666 CREBBP Sarah Leigh Gene: crebbp has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.665 CREBBP Sarah Leigh Publications for gene: CREBBP were set to 20684013
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh Marked gene: CREBBP as ready
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh Gene: crebbp has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.664 CREBBP Sarah Leigh gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy Syndromes. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 20684013
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1 180849
Review for gene: CREBBP was set to RED
Added comment: Associated with Rubinstein-Taybi syndrome 1 in OMIM and as confirmed Gen2Phen gene for this phenotype. Although seizures are reported as a feature of Rubinstein-Taybi syndrome 1, seizures were only recorded in a single 2 year old girl who had several complex focal seizures, a year later a slow growing ganglioglioma of the brain (left temporo–medio–basal region) was surgically removed, after which the seizures ceased (PMID 20684013).
Sources: Expert list
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Marked gene: SLC6A5 as ready
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Added comment: Comment when marking as ready: The phenotype Hyperekplexia 3, 614618 includes exaggerated startle response to tactile or acoustic stimuli, manifesting as non-epileptic seizures. This phenotype is therefore not relevant to the Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Gene: slc6a5 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, 614618
Early onset or syndromic epilepsy v0.662 SLC6A5 Sarah Leigh Mode of inheritance for gene: SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v1.0 Eleanor Williams promoted panel to version 1.0
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Marked gene: RYR3 as ready
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM (lasted edited 01/25/2005) or in Gen2Phen. Four variants reported in four cases, but with little supportive evidence for association with Epileptic encephalopathy.
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Gene: ryr3 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.120 CASK Eleanor Williams Publications for gene: CASK were set to 19200522; 28139025; 20029458; 25886057
Non-syndromic familial congenital anorectal malformations v0.119 CASK Eleanor Williams Tag watchlist tag was added to gene: CASK.
Non-syndromic familial congenital anorectal malformations v0.119 CDX2 Eleanor Williams Tag watchlist tag was added to gene: CDX2.
Non-syndromic familial congenital anorectal malformations v0.119 MYCN Eleanor Williams Tag watchlist tag was added to gene: MYCN.
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Tag watchlist tag was added to gene: MYH14.
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on report in PMID 29667327
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.660 RYR3 Sarah Leigh Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy
Early onset or syndromic epilepsy v0.659 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651
Early onset or syndromic epilepsy v0.658 RYR2 Sarah Leigh Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710
Early onset or syndromic epilepsy v0.657 RYR2 Sarah Leigh Classified gene: RYR2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.657 RYR2 Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.656 RYR2 Sarah Leigh gene: RYR2 was added
gene: RYR2 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710
Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Review for gene: RYR2 was set to AMBER
Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in cases displaying seizures (PMIDs 29667327 & 18483626), together with a mouse model (PMID 27832686). However, there are numerous cases of Ventricular tachycardia, catecholaminergic polymorphic, 1 604772, with no reports of seizures (PMIDs 11208676, 12093772, 11157710), therefore seizures appear to be a rare feature of this condition.
Sources: Literature
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Marked gene: RNASEH2A as ready
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Classified gene: RNASEH2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green Review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 4, which can present with seizures. Seizures is a common (at least 50%) feature of patients with AGS. Although it's hard to trace in papers whether the AGS patients specifically with RNASEH2A variants displayed seizures, RNASEH2A variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2A on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.655 RNASEH2A Rebecca Foulger Gene: rnaseh2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.654 RNASEH2A Rebecca Foulger Publications for gene: RNASEH2A were set to
Early onset or syndromic epilepsy v0.653 RNASEH2A Rebecca Foulger Mode of inheritance for gene: RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Crow et al., 2015 (PMID:25604658) report data for 374 mutation-positive patients from 299 families encompassing all seven known AGS-related genes. 140 of 362 patients had seizures. Biallelic RNASEH2A variants were reported in 14 families.
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 4 children from 3 families had biallelic variants in RNASEH2A. 1 individual with RNASEH2A variant who was affected at birth experienced neonatal seizures (Table 2).
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger commented on gene: RNASEH2A
Early onset or syndromic epilepsy v0.652 RNASEH2A Rebecca Foulger Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4, 610333
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Marked gene: TBL1XR1 as ready
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Gene: tbl1xr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Classified gene: TBL1XR1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Pierpont and mental retardation, both of which can present with seizures. Seizures reported in at least 3 patients (PMID:25102098, PMID:30365874 and PMID:9450851-original patient). Burkitt Wright, 2011 (PMID:21834056) also reports that "Seizures, in particular absence seizures, have been reported in several [Pierpont] patients. While they are clearly not universal, it currently appears that epilepsy may be sufficiently more common in children with Pierpont syndrome to be considered a feature of the condition". Therefore reasonable to include TBL1XR1 on the diagnostic panel.
Early onset or syndromic epilepsy v0.651 TBL1XR1 Rebecca Foulger Gene: tbl1xr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.650 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to
Early onset or syndromic epilepsy v0.649 TBL1XR1 Rebecca Foulger Mode of inheritance for gene: TBL1XR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.648 TBL1XR1 Rebecca Foulger Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: Previously reported individuals reported by Burkitt Wright, 2011 (PMID:21834056) include the initial patient reported by Pierpont et al 1998 (PMID:9450851) who had grand mal seizures from age 5.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: PMID:30365874 (Lemattre et al 2018) report a Caucasian boy (Patient 1) with a seizure disorder with both myoclonic and focal seizures that began age 10. Her harboured a de novo heterozygous missense variant (NM_024665.4:c.974G>A, p.Cys325Tyr) in TBL1XR1. Their second unrelated patient also had a missense TBL1XR1 variant but never had seizures.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: In a 5-year-old Japanese girl with autosomal dominant mental retardation-41 (MRD41; 616944), Saitsu et al. (2014, PMID:25102098) identified a de novo heterozygous transition (c.209G-A, NM_024665.4) in the TBL1XR1 gene (G70D). The patient developed infantile spasms at age 5 months.
Early onset or syndromic epilepsy v0.647 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Marked gene: TIMM50 as ready
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Classified gene: TIMM50 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 families reported in PMID:27573165 plus 1 family reported in a conference abstract. Further published or clinical cases required for diagnostic rating.
Early onset or syndromic epilepsy v0.647 TIMM50 Rebecca Foulger Gene: timm50 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.646 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to 27573165
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger commented on gene: TIMM50: In a conference abstract, Serajee et al identified a homozygous mutation, Gly372Ser, in the TIMM50 gene, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria.
Early onset or syndromic epilepsy v0.645 TIMM50 Rebecca Foulger Mode of inheritance for gene: TIMM50 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger commented on gene: TIMM50
Early onset or syndromic epilepsy v0.644 TIMM50 Rebecca Foulger Publications for gene: TIMM50 were set to
Early onset or syndromic epilepsy v0.643 TIMM50 Rebecca Foulger Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, 617698; intellectual disability and seizure; epilepsy and developmental delay
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Marked gene: TMEM70 as ready
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.642 TMEM70 Rebecca Foulger Publications for gene: TMEM70 were set to
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Classified gene: TMEM70 as Green List (high evidence)
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review, and Confirmed DD-G2P gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 which can present with seizures. Seizures reported in 3 unrelated patients from the literature (2 in PMID:18953340 and 1 in PMID:21147908) so just sufficient cases for Green rating.
Early onset or syndromic epilepsy v0.641 TMEM70 Rebecca Foulger Gene: tmem70 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.640 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.639 TMEM70 Rebecca Foulger Mode of inheritance for gene: TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.638 RYR3 Sarah Leigh Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
Early onset or syndromic epilepsy v0.637 TMEM70 Rebecca Foulger Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; seizures
Early onset or syndromic epilepsy v0.636 TMEM70 Rebecca Foulger commented on gene: TMEM70: In 6 patients from 4 unrelated consanguineous Arab-Muslim families with MC5DN2, Spiegel et al. (2011, PMID:21147908) identified 4 different homozygous mutations in the TMEM70 gene. Patient IV-1 developed generalised seizures at age 13.
Early onset or syndromic epilepsy v0.636 TMEM70 Rebecca Foulger commented on gene: TMEM70
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Marked gene: TNK2 as ready
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger commented on gene: TNK2: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Tag watchlist tag was added to gene: TNK2.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Classified gene: TNK2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 3 unrelated families reported in total: 3 siblings from PMID:23686771, and 2 further cases from PMID:27977884. However, the V716M variant from PMID:23686771 is classed as VUS in OMIM. And little information is given about the compound het variants from PMID:27977884. Therefore Amber rating awaiting further cases.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.635 TNK2 Rebecca Foulger Mode of inheritance for gene: TNK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.634 TNK2 Rebecca Foulger Phenotypes for gene: TNK2 were changed from to severe autosomal recessive infantile onset epilepsy; EE
Early onset or syndromic epilepsy v0.633 TNK2 Rebecca Foulger Publications for gene: TNK2 were set to
Early onset or syndromic epilepsy v0.632 TNK2 Rebecca Foulger commented on gene: TNK2: PMID:27977884 (Mao et al. 2017) report 2 further seizure patients with TNK2 variants. Patient A is a 20 month old non-dysmorphic girl of healthy non-consanguineous parents. At 13 months of age, she started to have spasm seizures. A pair of compound heterozygote variants in TNK2 (c.2860 G>T, c.3004 G>T) was found and verified by Sanger sequencing. Patient B is an 18 month old girl and the 2nd of 3 children of healthy parents. At the age of 11 months she exhibited seizure activity characterized by cluster of spasm. Sequencing found a pair of compound heterozygote variants in TNK2 (c.1705 A>G, c.2243 G>A) which were verified by Sanger sequencing. No further information on the variants (including protein information) was given.
Early onset or syndromic epilepsy v0.632 TNK2 Rebecca Foulger commented on gene: TNK2
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Marked gene: TRAPPC12 as ready
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Classified gene: TRAPPC12 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 literature cases only in PMID:28777934. Seizures are a phenotype of both cases but further cases required for a diagnostic rating.
Early onset or syndromic epilepsy v0.632 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Deleted their comment
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Classified gene: TRAPPC12 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Added comment: Comment on list classification: In 3 patients from 2 unrelated families with early-onset progressive encephalopathy with brain atrophy and spasticity (MIM:617669), Milev et al. (2017, PMID:28777934) identified homozygous or compound heterozygous mutations in the TRAPPC12 gene. The article text reports seizures in all 3 patients.
Early onset or syndromic epilepsy v0.631 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.630 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12
Early onset or syndromic epilepsy v0.630 TRAPPC12 Rebecca Foulger Publications for gene: TRAPPC12 were set to
Early onset or syndromic epilepsy v0.629 TRAPPC12 Rebecca Foulger Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
Early onset or syndromic epilepsy v0.628 TRAPPC12 Rebecca Foulger Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Marked gene: TRAPPC6B as ready
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Classified gene: TRAPPC6B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: A founder TRAPPC6B variant was reported in recent PMID:28626029 in Egyptian patients with seizures. Plus additional variant in ID patient from PMID:28397838. Further unrelated cases are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.627 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.626 TRAPPC6B Rebecca Foulger Publications for gene: TRAPPC6B were set to
Early onset or syndromic epilepsy v0.625 TRAPPC6B Rebecca Foulger Mode of inheritance for gene: TRAPPC6B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: In 2 patients from a consanguineous family, PMID:28397838 (Harripaul et al. 2018) identified a homozygous truncating variant in TRAPPC6N. The patients were selected for non-syndromic ID, which often presents with epilepsy but seizures were not discussed in the patients.
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B
Early onset or syndromic epilepsy v0.624 TRAPPC6B Rebecca Foulger Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Marked gene: TSEN34 as ready
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger commented on gene: TSEN34: Added 'watchlist' tag for alerts on additional cases.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Tag watchlist tag was added to gene: TSEN34.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Classified gene: TSEN34 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Probable DD-G2P gene for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4. One PCH2 patient with seizures and TSEN34 variant reported in PMID:20952379 (probably the same patient as from PMID:18711368/Budde et al 2008).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Marked gene: IFIH1 as ready
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 7, which can present with seizures. Sufficient cases (>3) of seizures from PMID:24995871, PMID:24686847 and 29270977. Plus a number of other papers reporting seizures as a common phenotype of AGS (PMID:25604658).
Early onset or syndromic epilepsy v0.622 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.621 IFIH1 Rebecca Foulger Publications for gene: IFIH1 were set to
Early onset or syndromic epilepsy v0.620 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:24686847 (Rice et al. 2014) observed six rare IFIH1 variants in eight probands with AGS. 2 of the patients presented with seizures (see Supplementary material): F102 (European Italian male with R720Q variant) and F626 (European Italian male with D393V variant).
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:29270977 report a 7 year old Japanese girl with febrile seizures amongst her phenotypes and a novel IFIH1 variant.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Monoallelic variants of IFIH1 were found in 9 families.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1: PMID:29239743 (Mutairi et al., 2018) reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. A Heterozygous c.961G>T variant in IFIH1 was found in 1 patient who didn't have seizures as part of her phenotype.
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger commented on gene: IFIH1
Early onset or syndromic epilepsy v0.619 IFIH1 Rebecca Foulger Phenotypes for gene: IFIH1 were changed from to Aicardi-Goutieres syndrome 7, 615846; seizures
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Marked gene: SAMHD1 as ready
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Gene: samhd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.618 SAMHD1 Rebecca Foulger Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, 612952; seizures
Early onset or syndromic epilepsy v0.617 SAMHD1 Rebecca Foulger Publications for gene: SAMHD1 were set to
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Classified gene: SAMHD1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome, which can present with seizures. 2 seizures reported in patients with SAMHD1 variants in PMID:29239743. Plus seizures are a common phenotype of AGS (PMID:29239743 and PMID:25604658), and since variants in SAMHD1 are a known cause of AGS, it is reasonable to include SAMHD1 on the panel. PMID:30275001 also provide support with one pathogenic and one VUS SAMHD1 variant reported in a Japanese girl with seizures.
Early onset or syndromic epilepsy v0.616 SAMHD1 Rebecca Foulger Gene: samhd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: PMID:30275001 (Haskell et al 2018) report a 4 year old girl with global developmental delay and seizures. WES identified two candidate causative pathogenic variants in SAMHD1: c.602T>A p.I201N (previously reported as pathogenic) and c.1293A>T p.L431F (a VUS).
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: Rice et al., 2009 (PMID:19525956): In 13 families from varying places (Hungarian, Maltese, French, Pakistani, Canadian, Moroccon, Indian, Arab, Ashenzai, Fijan) they identified homozygous or compound heterozygous variants in the SAMHD1 gene. Some families were consanguineous. Detailed phenotypes for the individuals were not listed.
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1: PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Biallelic SAMHD1 variants were recorded in 38 families, and one heterozygous SAMHD1 variant (p.Ile201Asn) was found in 1 family.
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger commented on gene: SAMHD1
Early onset or syndromic epilepsy v0.615 SAMHD1 Rebecca Foulger Mode of inheritance for gene: SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Marked gene: RNASEH2C as ready
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Classified gene: RNASEH2C as Green List (high evidence)
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 3, which can present with seizures. Most AGS patients carry the c.205C>T variant, which has been characterized as Founder effect in Pakistani patients (PMID:29150899). Additional variants are observed in single families (PMID:25604658 and PMID:20131292). Although it's unclear in some papers whether the AGS patients specifically with RNASEH2C variants displayed seizures, RNASEH2C variants are a known cause of AGS, and seizures are a common feature of AGS; therefore it is reasonable to include RNASEH2C on the Genetic Epilepsy panel.
Early onset or syndromic epilepsy v0.614 RNASEH2C Rebecca Foulger Gene: rnaseh2c has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.613 RNASEH2C Rebecca Foulger Publications for gene: RNASEH2C were set to
Early onset or syndromic epilepsy v0.612 RNASEH2C Rebecca Foulger Mode of inheritance for gene: RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger commented on gene: RNASEH2C
Early onset or syndromic epilepsy v0.611 RNASEH2C Rebecca Foulger Phenotypes for gene: RNASEH2C were changed from to Aicardi-Goutieres syndrome 3, 610329
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Marked gene: RNASEH2B as ready
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Classified gene: RNASEH2B as Green List (high evidence)
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutieres syndrome 2 (MIM:610181), which can present with seizures. Sufficient cases of seizures (>3) from PMIDs29239743, 17846997 and 28332073 for inclusion on panel.
Early onset or syndromic epilepsy v0.610 RNASEH2B Rebecca Foulger Gene: rnaseh2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.609 RNASEH2B Rebecca Foulger Mode of inheritance for gene: RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.608 RNASEH2B Rebecca Foulger Publications for gene: RNASEH2B were set to
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Abdel-Salam, 2017 (PMID:28332073) report two siblings with AGS, both with seizures among their phenotypes. They
identified a previously known homozygous missense variant in exon 7 of the RNASEH2B gene, c.554T>G (p.V185G), and both parents were heterozygous for the variant.
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Seizures were reported in 53% of patients. 47 families harboured a RNASEH2B variant.
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger commented on gene: RNASEH2B
Early onset or syndromic epilepsy v0.607 RNASEH2B Rebecca Foulger Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, MIM#610181 to Aicardi-Goutieres syndrome 2, 610181
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Marked gene: TREX1 as ready
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Classified gene: TREX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Aicardi-Goutières syndrome, which can present with seizures. Seizures also reported for SLE and RVCL patients (PMID:18583934). Sufficient (>3) cases of patients with seizures from PMID:29239743 and PMID:17846997 for inclusion on panel.
Early onset or syndromic epilepsy v0.606 TREX1 Rebecca Foulger Gene: trex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.605 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328; 17846997; 17357087
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger Added comment: Comment on phenotypes: PMID:18583934 (Kavanagh et al 2008) include seizures in the clinical phenotype of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), Systemic Lupus Erythematosus (SLE) and Aicardi-Goutières Syndrome (AGS) (Table 2).
Early onset or syndromic epilepsy v0.604 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700
Early onset or syndromic epilepsy v0.603 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures; Vasculopathy, retinal, with cerebral leukodystrophy, 192315; {Systemic lupus erythematosus, susceptibility to}, 152700
Cerebral malformation v0.2 Ellen McDonagh Changed child panels to: Malformations of cortical development
Cerebral malformation v0.1 Ellen McDonagh Panel status changed from public to internal
Panel types changed to GMS Rare Disease Virtual; Super Panel
Hypotonic infant v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel
Hypotonic infant v0.1 Ellen McDonagh Panel status changed from public to internal
Hereditary ataxia and cerebellar anomalies - childhood onset v0.1 Ellen McDonagh Panel status changed from public to internal
Cystic renal disease v0.1 Ellen McDonagh Panel status changed from public to internal
Paediatric disorders v0.1 Ellen McDonagh Panel status changed from public to internal
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Marked gene: PEX7 as ready
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a part of the spectrum of features in this phenotype (Genomics England clinical fellow Arianna Tucci).At least 6 variants reported in at least 7 cases.
Early onset or syndromic epilepsy v0.602 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.602 PEX2 Sarah Leigh Classified gene: PEX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.602 PEX2 Sarah Leigh Gene: pex2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.601 PEX7 Sarah Leigh Publications for gene: PEX7 were set to
Early onset or syndromic epilepsy v0.600 PEX7 Sarah Leigh Phenotypes for gene: PEX7 were changed from to Rhizomelic chondrodysplasia punctata, type 1 215100
Early onset or syndromic epilepsy v0.599 PEX7 Sarah Leigh Mode of inheritance for gene: PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Classified gene: PEX7 as Green List (high evidence)
Early onset or syndromic epilepsy v0.598 PEX7 Sarah Leigh Gene: pex7 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.597 PEX2 Sarah Leigh Classified gene: PEX2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.597 PEX2 Sarah Leigh Gene: pex2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.596 PEX2 Sarah Leigh gene: PEX2 was added
gene: PEX2 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 1546315; 14630978; 14630978
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) 614866
Review for gene: PEX2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 4 variants reported in at least 4 unrelated cases.
Sources: Literature
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Marked gene: PEX1 as ready
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Adrenoleukodystrophy. Seizures are a major feature of this phenotype (Genomics England clinical fellow Arianna Tucci). At least 5 variants reported in numerous unrelated cases.
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.595 PEX1 Sarah Leigh Mode of inheritance for gene: PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.594 PEX1 Sarah Leigh Publications for gene: PEX1 were set to
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Added comment: Comment on phenotypes: Adrenoleukodystrophy from Gen2Phen
Early onset or syndromic epilepsy v0.593 PEX1 Sarah Leigh Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 to Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Adrenoleukodystrophy
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Classified gene: PEX1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.592 PEX1 Sarah Leigh Gene: pex1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Marked gene: PIK3R2 as ready
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 activating gain of function variants reported in at least 8 cases.
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.591 PIK3R2 Sarah Leigh Mode of pathogenicity for gene: PIK3R2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Classified gene: PIK3R2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.590 PIK3R2 Sarah Leigh Gene: pik3r2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.589 PIK3R2 Sarah Leigh Publications for gene: PIK3R2 were set to
Early onset or syndromic epilepsy v0.588 PIK3R2 Sarah Leigh Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Limb disorders v0.275 TWIST1 Eleanor Williams Marked gene: TWIST1 as ready
Limb disorders v0.275 TWIST1 Eleanor Williams Gene: twist1 has been classified as Green List (High Evidence).
Limb disorders v0.275 TRIM32 Eleanor Williams Marked gene: TRIM32 as ready
Limb disorders v0.275 TRIM32 Eleanor Williams Gene: trim32 has been classified as Red List (Low Evidence).
Limb disorders v0.275 TRAPPC2 Eleanor Williams Marked gene: TRAPPC2 as ready
Limb disorders v0.275 TRAPPC2 Eleanor Williams Gene: trappc2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.275 SOX9 Eleanor Williams Marked gene: SOX9 as ready
Limb disorders v0.275 SOX9 Eleanor Williams Gene: sox9 has been classified as Red List (Low Evidence).
Limb disorders v0.275 SLC25A21 Eleanor Williams Marked gene: SLC25A21 as ready
Limb disorders v0.275 SLC25A21 Eleanor Williams Gene: slc25a21 has been classified as Red List (Low Evidence).
Limb disorders v0.275 SHH Eleanor Williams Marked gene: SHH as ready
Limb disorders v0.275 SHH Eleanor Williams Gene: shh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.587 MAGI2 Sarah Leigh Publications for gene: MAGI2 were set to 18565486
Limb disorders v0.275 ZNF141 Eleanor Williams Marked gene: ZNF141 as ready
Limb disorders v0.275 ZNF141 Eleanor Williams Gene: znf141 has been classified as Red List (Low Evidence).
Limb disorders v0.275 USP9X Eleanor Williams Marked gene: USP9X as ready
Limb disorders v0.275 USP9X Eleanor Williams Gene: usp9x has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.586 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v0.275 RAD51C Eleanor Williams Classified gene: RAD51C as Amber List (moderate evidence)
Limb disorders v0.275 RAD51C Eleanor Williams Added comment: Comment on list classification: 2 cases reported
Limb disorders v0.275 RAD51C Eleanor Williams Gene: rad51c has been classified as Amber List (Moderate Evidence).
Limb disorders v0.274 PIK3R2 Eleanor Williams Marked gene: PIK3R2 as ready
Limb disorders v0.274 PIK3R2 Eleanor Williams Gene: pik3r2 has been classified as Green List (High Evidence).
Limb disorders v0.274 PIK3R2 Eleanor Williams Mode of pathogenicity for gene: PIK3R2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Limb disorders v0.273 PIK3CA Eleanor Williams Marked gene: PIK3CA as ready
Limb disorders v0.273 PIK3CA Eleanor Williams Gene: pik3ca has been classified as Green List (High Evidence).
Limb disorders v0.273 PIK3CA Eleanor Williams Mode of pathogenicity for gene: PIK3CA was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Limb disorders v0.272 PDE6D Eleanor Williams Marked gene: PDE6D as ready
Limb disorders v0.272 PDE6D Eleanor Williams Gene: pde6d has been classified as Red List (Low Evidence).
Limb disorders v0.272 MEGF8 Eleanor Williams Marked gene: MEGF8 as ready
Limb disorders v0.272 MEGF8 Eleanor Williams Gene: megf8 has been classified as Green List (High Evidence).
Limb disorders v0.272 MBTPS2 Eleanor Williams Marked gene: MBTPS2 as ready
Limb disorders v0.272 MBTPS2 Eleanor Williams Gene: mbtps2 has been classified as Red List (Low Evidence).
Limb disorders v0.272 LZTFL1 Eleanor Williams Marked gene: LZTFL1 as ready
Limb disorders v0.272 LZTFL1 Eleanor Williams Gene: lztfl1 has been classified as Green List (High Evidence).
Limb disorders v0.272 LBR Eleanor Williams Marked gene: LBR as ready
Limb disorders v0.272 LBR Eleanor Williams Gene: lbr has been classified as Green List (High Evidence).
Limb disorders v0.272 IFT52 Eleanor Williams Marked gene: IFT52 as ready
Limb disorders v0.272 IFT52 Eleanor Williams Gene: ift52 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.272 IFT27 Eleanor Williams Marked gene: IFT27 as ready
Limb disorders v0.272 IFT27 Eleanor Williams Gene: ift27 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.272 ICK Eleanor Williams Marked gene: ICK as ready
Limb disorders v0.272 ICK Eleanor Williams Gene: ick has been classified as Green List (High Evidence).
Limb disorders v0.272 GRIP1 Eleanor Williams Marked gene: GRIP1 as ready
Limb disorders v0.272 GRIP1 Eleanor Williams Gene: grip1 has been classified as Green List (High Evidence).
Limb disorders v0.272 GREM1 Eleanor Williams Marked gene: GREM1 as ready
Limb disorders v0.272 GREM1 Eleanor Williams Gene: grem1 has been classified as Red List (Low Evidence).
Limb disorders v0.272 GPC3 Eleanor Williams Marked gene: GPC3 as ready
Limb disorders v0.272 GPC3 Eleanor Williams Gene: gpc3 has been classified as Green List (High Evidence).
Limb disorders v0.272 GLI2 Eleanor Williams Marked gene: GLI2 as ready
Limb disorders v0.272 GLI2 Eleanor Williams Gene: gli2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.585 MAGI2 Sarah Leigh Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Nephrotic syndrome, type 15 617609; Infantile Spasms
Limb disorders v0.272 FREM2 Eleanor Williams Marked gene: FREM2 as ready
Limb disorders v0.272 FREM2 Eleanor Williams Gene: frem2 has been classified as Green List (High Evidence).
Limb disorders v0.272 FRAS1 Eleanor Williams Marked gene: FRAS1 as ready
Limb disorders v0.272 FRAS1 Eleanor Williams Gene: fras1 has been classified as Green List (High Evidence).
Limb disorders v0.272 FMN1 Eleanor Williams Marked gene: FMN1 as ready
Limb disorders v0.272 FMN1 Eleanor Williams Gene: fmn1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Classified gene: MAGI2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.584 MAGI2 Sarah Leigh Gene: magi2 has been classified as Green List (High Evidence).
Limb disorders v0.272 FGF9 Eleanor Williams Marked gene: FGF9 as ready
Limb disorders v0.272 FGF9 Eleanor Williams Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Added comment: Comment on mode of inheritance: According to report of homozygous and compound heterozygous variants in OMIM, Gen2Phen reports as monoallelic.
Early onset or syndromic epilepsy v0.583 MAGI2 Sarah Leigh Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Marked gene: GLRB as ready
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, one case in a large Saudi Arabian family was reported with seizures and a possible history of meningitis in infancy (PMID 21391991).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Gene: glrb has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Mode of inheritance for gene: GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.581 GLRB Sarah Leigh Phenotypes for gene: GLRB were changed from to Hyperekplexia 2 614619
Early onset or syndromic epilepsy v0.580 GLRB Sarah Leigh Publications for gene: GLRB were set to
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Marked gene: GLRA1 as ready
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Added comment: Comment when marking as ready: At least 15 variants have been reported in cases with Hyperekplexia 1 149400, however, the seizures associated with this disorder to not have concomitant discharges on EEG analysis.
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to 29602144
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Classified gene: GLRA1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.577 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to
Early onset or syndromic epilepsy v0.576 GLRA1 Sarah Leigh Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400
Early onset or syndromic epilepsy v0.575 GLRA1 Sarah Leigh Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Classified gene: TSC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.574 TSC1 Sarah Leigh Gene: tsc1 has been classified as Green List (High Evidence).
Limb disorders v0.272 FGD1 Eleanor Williams Marked gene: FGD1 as ready
Limb disorders v0.272 FGD1 Eleanor Williams Gene: fgd1 has been classified as Green List (High Evidence).
Limb disorders v0.272 FBLN1 Eleanor Williams Marked gene: FBLN1 as ready
Limb disorders v0.272 FBLN1 Eleanor Williams Gene: fbln1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.272 FANCM Eleanor Williams Marked gene: FANCM as ready
Limb disorders v0.272 FANCM Eleanor Williams Gene: fancm has been classified as Red List (Low Evidence).
Limb disorders v0.272 EBP Eleanor Williams Marked gene: EBP as ready
Limb disorders v0.272 EBP Eleanor Williams Gene: ebp has been classified as Green List (High Evidence).
Limb disorders v0.272 DLX6 Eleanor Williams Marked gene: DLX6 as ready
Limb disorders v0.272 DLX6 Eleanor Williams Gene: dlx6 has been classified as Red List (Low Evidence).
Limb disorders v0.272 ZNF141 Eleanor Williams Tag watchlist tag was added to gene: ZNF141.
Limb disorders v0.272 GREM1 Eleanor Williams Tag watchlist tag was added to gene: GREM1.
Limb disorders v0.272 LZTFL1 Eleanor Williams Source Expert Review Green was added to LZTFL1.
Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 17 615994 for gene: LZTFL1
Publications for gene LZTFL1 were changed from to 22510444; 23692385
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 LBR Eleanor Williams Source Expert Review Green was added to LBR.
Mode of inheritance for gene LBR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes mesomelia; Greenberg skeletal dysplasia, 215140; rhizomelia; post-axial polydactyly; Polydactyly for gene: LBR
Publications for gene LBR were changed from to 18382993; 12618959; 21327084; 12118250
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 ICK Eleanor Williams Source Expert Review Green was added to ICK.
Mode of inheritance for gene ICK was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ECO; Rhizomelia; Short-rib thoracic dysplasia with polydactyly; Polydactyly; SRTD; Mesomelia; Endocrine-cerebroosteodysplasia, 612651 for gene: ICK
Publications for gene ICK were changed from to 27466187; 27069622; 19185282
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 GRIP1 Eleanor Williams Source Expert Review Green was added to GRIP1.
Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fraser syndrome 3 617667 for gene: GRIP1
Publications for gene GRIP1 were changed from to 22510445; 24357607
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 GPC3 Eleanor Williams Source Expert Review Green was added to GPC3.
Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870 for gene: GPC3
Publications for gene GPC3 were changed from to 10814714
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 GLI2 Eleanor Williams Source Expert Review Green was added to GLI2.
Mode of inheritance for gene GLI2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holoprosencephaly 9 610829; Culler-Jones syndrome 615849 for gene: GLI2
Publications for gene GLI2 were changed from to 21204792; 14581620
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 FREM2 Eleanor Williams Source Expert Review Green was added to FREM2.
Mode of inheritance for gene FREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fraser syndrome 2 617666 for gene: FREM2
Publications for gene FREM2 were changed from to 18203166; 18671281; 15838507
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 FRAS1 Eleanor Williams Source Expert Review Green was added to FRAS1.
Mode of inheritance for gene FRAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fraser syndrome 1 219000 for gene: FRAS1
Publications for gene FRAS1 were changed from to 12766769; 17163535; 16894541
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 FGD1 Eleanor Williams Source Expert Review Green was added to FGD1.
Mode of inheritance for gene FGD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Aarskog-Scott syndrome 305400 for gene: FGD1
Publications for gene FGD1 were changed from 15809997 to 14560308; 20082460; 17152066; 11093277; 7954831; 10930571; 15809997
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v0.272 EBP Eleanor Williams Source Expert Review Green was added to EBP.
Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960 for gene: EBP
Publications for gene EBP were changed from to 10942423; 10391218; 10391219; 12509714
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.272 DDX59 Eleanor Williams Added phenotypes Orofaciodigital syndrome V 174300 for gene: DDX59
Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 29127725; 28711741; 23972372
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb disorders v0.272 UBE3B Eleanor Williams Source Expert Review Amber was added to UBE3B.
Mode of inheritance for gene UBE3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kaufman oculocerebrofacial syndrome 244450 for gene: UBE3B
Publications for gene UBE3B were changed from to 23200864
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Limb disorders v0.272 TRAPPC2 Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
Limb disorders v0.272 IFT52 Eleanor Williams Source Expert Review Amber was added to IFT52.
Mode of inheritance for gene IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Polydactyly for gene: IFT52
Publications for gene IFT52 were changed from to 26880018
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Limb disorders v0.272 IFT27 Eleanor Williams Source Expert Review Amber was added to IFT27.
Mode of inheritance for gene IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Bardet-Biedl syndrome 19, 615996; Polydactyly for gene: IFT27
Publications for gene IFT27 were changed from to 24488770; 29704304
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Limb disorders v0.272 FGF9 Eleanor Williams Added phenotypes Multiple synostoses syndrome 3 612961 for gene: FGF9
Publications for gene FGF9 were changed from 19460469; 28169396; 19589401 to 19460469; 28730625; 28169396; 19589401
Limb disorders v0.272 FBLN1 Eleanor Williams Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180; SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES for gene: FBLN1
Publications for gene FBLN1 were changed from 24084572; 11836357 to 11836357; 24084572
Early onset or syndromic epilepsy v0.573 ST3GAL5 Sarah Leigh Publications for gene: ST3GAL5 were set to
Early onset or syndromic epilepsy v0.572 ST3GAL5 Sarah Leigh Mode of inheritance for gene: ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.571 ST3GAL5 Sarah Leigh Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Classified gene: ST3GAL5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.569 PRICKLE1 Sarah Leigh Publications for gene: PRICKLE1 were set to
Early onset or syndromic epilepsy v0.568 PRICKLE1 Sarah Leigh Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B 612437
Early onset or syndromic epilepsy v0.567 PRICKLE1 Sarah Leigh Mode of inheritance for gene: PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.566 PRICKLE1 Sarah Leigh Classified gene: PRICKLE1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.566 PRICKLE1 Sarah Leigh Gene: prickle1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.565 NHLRC1 Sarah Leigh Publications for gene: NHLRC1 were set to
Early onset or syndromic epilepsy v0.564 NHLRC1 Sarah Leigh Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Early onset or syndromic epilepsy v0.563 NHLRC1 Sarah Leigh Classified gene: NHLRC1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.563 NHLRC1 Sarah Leigh Gene: nhlrc1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.562 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B 252160
Early onset or syndromic epilepsy v0.561 MOCS2 Sarah Leigh Mode of inheritance for gene: MOCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.271 RBM10 Eleanor Williams Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes TARP syndrome 311900 for gene: RBM10
Publications for gene RBM10 were changed from to 21910224; 20451169; 24259342
Limb disorders v0.271 RAD51C Eleanor Williams Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group O 613390 for gene: RAD51C
Publications for gene RAD51C were changed from to 20400963; 29278735
Limb disorders v0.271 PROM1 Eleanor Williams Source Expert Review Red was added to PROM1.
Mode of inheritance for gene PROM1 was changed from to Unknown
Limb disorders v0.271 PNPLA6 Eleanor Williams Source Expert Review Red was added to PNPLA6.
Mode of inheritance for gene PNPLA6 was changed from to Unknown
Limb disorders v0.271 HNRNPK Eleanor Williams Source Expert Review Amber was added to HNRNPK.
Added phenotypes Au-Kline syndrome 616580 for gene: HNRNPK
Publications for gene HNRNPK were changed from to 26173930; 19477957
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Limb disorders v0.271 GATA1 Eleanor Williams Source Expert Review Amber was added to GATA1.
Mode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Radial Ray abnormality for gene: GATA1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Limb disorders v0.271 ZNF141 Eleanor Williams Source Expert Review Red was added to ZNF141.
Added phenotypes ?Polydactyly, postaxial, type A6 615226; Polydactyly for gene: ZNF141
Limb disorders v0.271 TRIM32 Eleanor Williams Source Expert Review Red was added to TRIM32.
Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bardet-Biedl syndrome 11, 615988; Polydactyly for gene: TRIM32
Publications for gene TRIM32 were changed from to 20301537; 16606853
Limb disorders v0.271 SOX9 Eleanor Williams Source Expert Review Red was added to SOX9.
Mode of inheritance for gene SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Brachydactyly-anonychia for gene: SOX9
Publications for gene SOX9 were changed from 19639023 to 24704791; 19639023
Limb disorders v0.271 SLC25A21 Eleanor Williams Added phenotypes Familial synpolydactyly of the hands and feet for gene: SLC25A21
Publications for gene SLC25A21 were changed from 25759628 to 22011226; 25759628; 14504231
Limb disorders v0.271 SHH Eleanor Williams Mode of inheritance for gene SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Preaxial polydactyly; Polydactyly for gene: SHH
Publications for gene SHH were changed from 12032320; 12837695; 25782671 to 25782671; 12837695; 12032320
Limb disorders v0.271 SEM1 Eleanor Williams Source Expert Review Red was added to SEM1.
Added phenotypes Split hand/foot malformation 1, 183600 for gene: SEM1
Limb disorders v0.271 PDE6D Eleanor Williams Source Expert Review Red was added to PDE6D.
Mode of inheritance for gene PDE6D was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Joubert syndrome 22 615665 for gene: PDE6D
Publications for gene PDE6D were changed from to 24166846
Limb disorders v0.271 MBTPS2 Eleanor Williams Source Expert Review Red was added to MBTPS2.
Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 for gene: MBTPS2
Publications for gene MBTPS2 were changed from to 9021007
Limb disorders v0.271 GREM1 Eleanor Williams Source Expert Review Red was added to GREM1.
Mode of inheritance for gene GREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene GREM1 were changed from 20610440 to 26527308; 22888807; 16908629; 15201225; 20610440; 22965740
Limb disorders v0.271 FMN1 Eleanor Williams Source Expert Review Red was added to FMN1.
Publications for gene FMN1 were changed from to 20610440
Limb disorders v0.271 FANCM Eleanor Williams Source Expert Review Red was added to FANCM.
Added phenotypes Radial Ray abnormality for gene: FANCM
Publications for gene FANCM were changed from to 28837162
Limb disorders v0.271 DLX6 Eleanor Williams Source Expert Review Red was added to DLX6.
Mode of inheritance for gene DLX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Split hand/foot malformation 1 for gene: DLX6
Publications for gene DLX6 were changed from to 28611547
Limb disorders v0.271 USP9X Eleanor Williams Source Expert Review Green was added to USP9X.
Mode of inheritance for gene USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted for gene: USP9X
Publications for gene USP9X were changed from to 26833328
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.271 TWIST1 Eleanor Williams Source Expert Review Green was added to TWIST1.
Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400; Polydactyly for gene: TWIST1
Publications for gene TWIST1 were changed from to 11754069; 12791045; 16251895; 10465122; 30152628; 9792856; 11977182; 25565733; 9585583
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.271 PIK3R2 Eleanor Williams Source Expert Review Green was added to PIK3R2.
Mode of inheritance for gene PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 for gene: PIK3R2
Publications for gene PIK3R2 were changed from to 23745724; 22729224; 26520804
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.271 PIK3CA Eleanor Williams Source Expert Review Green was added to PIK3CA.
Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Macrodactyly, somatic 155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; CLOVE syndrome, somatic 612918; CLAPO syndrome, somatic 613089 for gene: PIK3CA
Publications for gene PIK3CA were changed from to 23100325; 19353582; 29446767; 22729224; 19011570
Rating Changed from Red List (low evidence) to Green List (high evidence)
Limb disorders v0.271 MEGF8 Eleanor Williams Source Expert Review Green was added to MEGF8.
Mode of inheritance for gene MEGF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Carpenter syndrome 2 614976 for gene: MEGF8
Publications for gene MEGF8 were changed from to 23063620
Rating Changed from Red List (low evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v0.560 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.560 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.559 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A 252150
Early onset or syndromic epilepsy v0.558 MOCS1 Sarah Leigh Mode of inheritance for gene: MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.557 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.556 DCX Sarah Leigh Classified gene: DCX as Green List (high evidence)
Early onset or syndromic epilepsy v0.556 DCX Sarah Leigh Gene: dcx has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.555 DCX Sarah Leigh Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked 300067; Subcortical laminal heterotopia, X-linked 300067
Early onset or syndromic epilepsy v0.554 DCX Sarah Leigh Mode of inheritance for gene: DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Marked gene: VARS as ready
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures identified in sufficient unrelated cases for VARS to be rated green on the Genetic Epilepsy syndromes panel.
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Gene: vars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.553 VARS Sarah Leigh Phenotypes for gene: VARS were changed from # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Early onset or syndromic epilepsy v0.552 VARS Sarah Leigh Classified gene: VARS as Green List (high evidence)
Early onset or syndromic epilepsy v0.552 VARS Sarah Leigh Gene: vars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Marked gene: TRAF7 as ready
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, OMIM for this gene has not been updated since 04/01/2013. Review from Konstantinos Varvagiannis suggests sufficient evidence exists for TRAF7 to be amber on this panel and possibly green.
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Gene: traf7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Classified gene: TRAF7 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.551 TRAF7 Sarah Leigh Gene: traf7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Marked gene: KARS as ready
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Added comment: Comment when marking as ready: Although seizures are not present in all cases of ?Charcot-Marie-Tooth disease, recessive intermediate, B 613641 or Deafness, autosomal recessive 89 613916, seizures have been reported in at least 5 cases carrying a total of 10 KARS variants AS compound heterozygotes.
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Gene: kars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Classified gene: KARS as Green List (high evidence)
Early onset or syndromic epilepsy v0.550 KARS Sarah Leigh Gene: kars has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Marked gene: CACNA1E as ready
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. PMID reports 30343943 "de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death."
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Gene: cacna1e has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.549 CACNA1E Sarah Leigh Publications for gene: CACNA1E were set to 29942082
Early onset or syndromic epilepsy v0.548 CACNA1E Sarah Leigh Classified gene: CACNA1E as Green List (high evidence)
Early onset or syndromic epilepsy v0.548 CACNA1E Sarah Leigh Gene: cacna1e has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Marked gene: PIGG as ready
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants, plus one 2.4mb deletion encompassing the PIGG gene reported in three unrelated cases.
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Gene: pigg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Classified gene: PIGG as Green List (high evidence)
Early onset or syndromic epilepsy v0.547 PIGG Sarah Leigh Gene: pigg has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.546 PIGG Sarah Leigh Phenotypes for gene: PIGG were changed from # 616917. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 to Mental retardation, autosomal recessive 53 616917
Limb disorders v0.270 TWIST1 Louise Daugherty reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10465122, 11754069, 11977182, 9585583, 9792856, 16251895, 30152628, 12791045, 10465122, 25565733; Phenotypes: Polydactyly, Robinow-Sorauf syndrome, 180750, Saethre-Chotzen syndrome, 101400 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 TRIM32 Louise Daugherty reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: 16606853, 20301537; Phenotypes: Polydactyly, Bardet-Biedl syndrome 11, 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 TRAPPC2 Louise Daugherty reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda, 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 SOX9 Louise Daugherty reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: ; Publications: 19639023, 24704791; Phenotypes: Brachydactyly-anonychia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 SLC25A21 Louise Daugherty reviewed gene: SLC25A21: Rating: RED; Mode of pathogenicity: ; Publications: 25759628, 14504231, 22011226; Phenotypes: Familial synpolydactyly of the hands and feet; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 SHH Louise Daugherty reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: 12032320, 12837695, 25782671; Phenotypes: Preaxial polydactyly, Polydactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders v0.270 SEM1 Louise Daugherty edited their review of gene: SEM1: Added comment: Agree with Red rating,Originally submitted as DSS1 by external reviewer (not SHFM1), the new HGNC-approved symbol is SEM1. Although Split-hand/foot malformation-1 (disease acronym and previous gene symbol SHFM1) is a relevant phenotype to the Limb panel, Split-hand/foot malformation-1 represents a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene. This is not a monogeneic disorder.; Changed phenotypes: Split hand/foot malformation 1, 183600; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 ZNF141 Ellen McDonagh edited their review of gene: ZNF141: Added comment: PMID: 23160277 - family report of a missense variant segregating with autosomal recessive postaxial polydactyly type A. Functional analysis was not carried out to confirm the effect of the missense. Not enough evidence at this time for this gene to be green - added the watchlist tag.; Changed rating: RED; Changed publications: 23160277; Changed phenotypes: ?Polydactyly, postaxial, type A6 615226, Polydactyly; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 USP9X Ellen McDonagh reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833328; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb disorders v0.270 UBE3B Ellen McDonagh reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: ; Publications: 23200864; Phenotypes: Kaufman oculocerebrofacial syndrome 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 FMN1 Eleanor Williams reviewed gene: FMN1: Rating: RED; Mode of pathogenicity: ; Publications: 20610440; Phenotypes: ; Mode of inheritance:
Limb disorders v0.270 FGF9 Eleanor Williams edited their review of gene: FGF9: Added comment: No new evidence so keep as Amber; Changed rating: AMBER; Changed publications: 19460469, 28169396, 19589401, 28730625; Changed phenotypes: Multiple synostoses syndrome 3 612961; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 FGD1 Eleanor Williams reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15809997, 7954831, 10930571, 11093277, 14560308, 17152066, 20082460; Phenotypes: Aarskog-Scott syndrome 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 FBLN1 Eleanor Williams reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24084572, 11836357; Phenotypes: Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180, SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb disorders v0.270 FANCM Eleanor Williams reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: 28837162; Phenotypes: Radial Ray abnormality; Mode of inheritance:
Limb disorders v0.270 EBP Eleanor Williams reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391218, 10391219, 10942423, 12509714; Phenotypes: Polydactyly, Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb disorders v0.270 DLX6 Eleanor Williams edited their review of gene: DLX6: Changed rating: RED; Changed publications: 28611547; Changed phenotypes: Split hand/foot malformation 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 DDX59 Eleanor Williams edited their review of gene: DDX59: Added comment: Mutations identified in 5 families. Postaxial polydactyly reported in 4.; Changed rating: GREEN; Changed publications: 23972372, 28711741, 29127725; Changed phenotypes: Orofaciodigital syndrome V 174300; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 RBM10 Eleanor Williams edited their review of gene: RBM10: Changed rating: AMBER; Changed publications: 20451169, 21910224, 24259342; Changed phenotypes: TARP syndrome 311900; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 RAD51C Sarah Leigh reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 PROM1 Sarah Leigh reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Limb disorders v0.270 PNPLA6 Sarah Leigh reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Limb disorders v0.270 PIK3R2 Sarah Leigh reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 22729224, 23745724, 26520804; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 PIK3CA Sarah Leigh reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23100325, 29446767, 19011570, 19353582, 22729224; Phenotypes: Macrodactyly, somatic 155500, CLAPO syndrome, somatic 613089, CLOVE syndrome, somatic 612918, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 PDE6D Sarah Leigh reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: ; Publications: 24166846; Phenotypes: ?Joubert syndrome 22 615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 MEGF8 Sarah Leigh reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063620; Phenotypes: Carpenter syndrome 2 614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 MBTPS2 Sarah Leigh reviewed gene: MBTPS2: Rating: RED; Mode of pathogenicity: ; Publications: 9021007; Phenotypes: IFAP syndrome with or without BRESHECK syndrome 308205; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 LZTFL1 Sarah Leigh reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23692385, 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 HNRNPK Ellen McDonagh reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 26173930, 19477957; Phenotypes: Au-Kline syndrome 616580; Mode of inheritance:
Limb disorders v0.270 GRIP1 Ellen McDonagh reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22510445, 24357607; Phenotypes: Fraser syndrome 3 617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 GREM1 Ellen McDonagh reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: 20610440, 26527308, 22888807, 22965740, 15201225, 16908629; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 GPC3 Ellen McDonagh reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10814714; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 GLI2 Ellen McDonagh reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14581620, 14581620, 21204792, 21204792; Phenotypes: Culler-Jones syndrome 615849, Holoprosencephaly 9 610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.270 GATA1 Ellen McDonagh reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Radial Ray abnormality; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb disorders v0.270 FREM2 Ellen McDonagh reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 18671281, 18203166; Phenotypes: Fraser syndrome 2 617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 FRAS1 Ellen McDonagh reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12766769, 16894541, 17163535; Phenotypes: Fraser syndrome 1 219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 LBR Rebecca Foulger reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959, 12118250, 18382993, 21327084; Phenotypes: Polydactyly, Greenberg skeletal dysplasia, 215140, rhizomelia, mesomelia, post-axial polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 IFT52 Rebecca Foulger reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: 26880018; Phenotypes: Polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 IFT27 Rebecca Foulger reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 24488770, 29704304; Phenotypes: Polydactyly, ?Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.270 ICK Rebecca Foulger reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185282, 27069622, 27466187; Phenotypes: Polydactyly, Endocrine-cerebroosteodysplasia, 612651, ECO, Short-rib thoracic dysplasia with polydactyly, SRTD, Rhizomelia, Mesomelia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.119 SALL1 Eleanor Williams Marked gene: SALL1 as ready
Non-syndromic familial congenital anorectal malformations v0.119 SALL1 Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence).
Limb disorders v0.269 KIAA0586 Eleanor Williams Marked gene: KIAA0586 as ready
Limb disorders v0.269 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.269 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence)
Limb disorders v0.269 KIAA0586 Eleanor Williams Added comment: Comment on list classification: Rated green because three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. 1 variant is thought to be a founder mutation but functional studies support this being the causative mutation.
Limb disorders v0.269 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.268 KIAA0586 Eleanor Williams Deleted their comment
Limb disorders v0.268 KIAA0586 Eleanor Williams Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly to Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly; Joubert syndrome 23 616490
Limb disorders v0.267 KIAA0586 Eleanor Williams Publications for gene: KIAA0586 were set to 26166481; 26437029
Limb disorders v0.266 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Green List (high evidence)
Limb disorders v0.266 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Green List (High Evidence).
Limb disorders v0.265 KIAA0586 Eleanor Williams Classified gene: KIAA0586 as Amber List (moderate evidence)
Limb disorders v0.265 KIAA0586 Eleanor Williams Added comment: Comment on list classification: Rating green as three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly.
Limb disorders v0.265 KIAA0586 Eleanor Williams Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.264 KIAA0586 Eleanor Williams commented on gene: KIAA0586: Associated with Joubert syndrome 23 and Short-rib thoracic dysplasia 14 with polydactyly in OMIM and Joubert syndrome in Gene2Phenotype.

4 families described in PMID: 26166481 for Short-rib thoracic dysplasia 14 with polydactyly. One family is a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities. A homozygous nonsense mutation was identified (S77X). They identified 3 further unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (c.1815G-A). Haplotype analysis of these 3 families was consistent with a common ancestor, estimated to have lived 16 generations (480 years) earlier.

Bachmann-Gagescu et al. (2015) (PMID: 26096313) identified homozygous or compound heterozygous mutations in the KIAA0586 gene in individuals with Joubert syndrome-23 from 9 unrelated families. Only 1 patient of Middle easter origin had polydactyly (D566V variant).

In summary, three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly.
Limb disorders v0.264 PRMT7 Eleanor Williams Marked gene: PRMT7 as ready
Limb disorders v0.264 PRMT7 Eleanor Williams Gene: prmt7 has been classified as Green List (High Evidence).
Limb disorders v0.264 PRMT7 Eleanor Williams Classified gene: PRMT7 as Green List (high evidence)
Limb disorders v0.264 PRMT7 Eleanor Williams Added comment: Comment on list classification: Rated as Green as there are more than 3 cases of individuals with brachydactyly and LOF variants in the PRMT7 gene.
Limb disorders v0.264 PRMT7 Eleanor Williams Gene: prmt7 has been classified as Green List (High Evidence).
Renal tubulopathies v1.8 WDR72 John Sayer gene: WDR72 was added
gene: WDR72 was added to Renal tubular acidosis. Sources: Literature
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028003
Phenotypes for gene: WDR72 were set to distal RTA
Penetrance for gene: WDR72 were set to Complete
Review for gene: WDR72 was set to GREEN
Added comment: Should be added to gene panel
Sources: Literature
Limb disorders v0.263 PORCN Eleanor Williams Marked gene: PORCN as ready
Limb disorders v0.263 PORCN Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
Limb disorders v0.263 PORCN Eleanor Williams Classified gene: PORCN as Green List (high evidence)
Limb disorders v0.263 PORCN Eleanor Williams Added comment: Comment on list classification: Changing rating to Green. More than 3 cases where syndactyly is reported in patients with point mutations resulting in stop mutations in publication PMID:17546031 alone.
Limb disorders v0.263 PORCN Eleanor Williams Gene: porcn has been classified as Green List (High Evidence).
Limb disorders v0.262 DYNC2H1 Eleanor Williams Marked gene: DYNC2H1 as ready
Limb disorders v0.262 DYNC2H1 Eleanor Williams Gene: dync2h1 has been classified as Green List (High Evidence).
Limb disorders v0.262 DYNC2H1 Eleanor Williams Classified gene: DYNC2H1 as Green List (high evidence)
Limb disorders v0.262 DYNC2H1 Eleanor Williams Added comment: Comment on list classification: Promoting to green because there are more than 3 cases in which polydactyly/syndactyly are seen.
Limb disorders v0.262 DYNC2H1 Eleanor Williams Gene: dync2h1 has been classified as Green List (High Evidence).
Limb disorders v0.261 COL2A1 Eleanor Williams Marked gene: COL2A1 as ready
Limb disorders v0.261 COL2A1 Eleanor Williams Gene: col2a1 has been classified as Green List (High Evidence).
Limb disorders v0.261 NEK1 Eleanor Williams Marked gene: NEK1 as ready
Limb disorders v0.261 NEK1 Eleanor Williams Gene: nek1 has been classified as Green List (High Evidence).
Limb disorders v0.261 NEK1 Eleanor Williams Classified gene: NEK1 as Green List (high evidence)
Limb disorders v0.261 NEK1 Eleanor Williams Added comment: Comment on list classification: Rating this gene as green as there are > 3 cases where the patients show polydactyly/polysyndactyly.
Limb disorders v0.261 NEK1 Eleanor Williams Gene: nek1 has been classified as Green List (High Evidence).
Limb disorders v0.260 COL2A1 Eleanor Williams Publications for gene: COL2A1 were set to 14729840; 15266623
Limb disorders v0.259 COL2A1 Eleanor Williams Classified gene: COL2A1 as Green List (high evidence)
Limb disorders v0.259 COL2A1 Eleanor Williams Added comment: Comment on list classification: 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1
Limb disorders v0.259 COL2A1 Eleanor Williams Gene: col2a1 has been classified as Green List (High Evidence).
Limb disorders v0.258 COL2A1 Eleanor Williams commented on gene: COL2A1: Associated with many conditions in OMIM including Spondyloperipheral dysplasia.

Zabel et al. (1996) (PMID: 8723097)  described a 5-bp duplication in exon 51 of the COL2A1 gene resulting in a frameshift in a patient with spondyloperipheral dysplasia. The patient’s phenotypes included Brachydactyly and short toes.

Zankl et al. (2004) (PMID: 15316962) identified heterozygous truncating mutations in the COL2A1 gene in two patients with a phenotype similar to that described by Zabel et al. (1996). Both developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in COL2A1 were found.

Summary - 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1.
Limb disorders v0.258 ORC1 Eleanor Williams Publications for gene: ORC1 were set to
Limb disorders v0.257 ORC1 Eleanor Williams commented on gene: ORC1: ORC1 is associated with Meier-Gorlin syndrome 1 in OMIM and Gene2Phenotype (confirmed).

> 3 cases of individuals with Meier-Goblin syndrome with short stature (dwarfism) are reported in  Bicknell et al. (2011)(PMID: 21358633),  Bicknell et al. (2011) (PMID: 21358632) and Guernsey et al. (2011) (PMID: 21358631). A variety of homozygous and compound heterozygous mutations in ORC1 were identified.
Limb disorders v0.257 CHSY1 Eleanor Williams Marked gene: CHSY1 as ready
Limb disorders v0.257 CHSY1 Eleanor Williams Gene: chsy1 has been classified as Green List (High Evidence).
Limb disorders v0.257 CHSY1 Eleanor Williams Classified gene: CHSY1 as Green List (high evidence)
Limb disorders v0.257 CHSY1 Eleanor Williams Added comment: Comment on list classification: Rating as green as there are > 3 cases of patients with a phenotype relevant to this panel with a plausible disease causing variant.
Limb disorders v0.257 CHSY1 Eleanor Williams Gene: chsy1 has been classified as Green List (High Evidence).
Limb disorders v0.256 CHSY1 Eleanor Williams commented on gene: CHSY1: Associated with Temtamy preaxial brachydactyly syndrome in OMIM and Gene2Phenotype.
Li et al (2010)(PMID: 21129728) describe 5 consanguineous TPBS families with several different homozygous variants in CHSY1. Patients from all families showed phenotypes relevant to this panel including syndactyly and preaxial brachydactyly.

Tian et al (2010)(PMID:  21129727) also describe a consanguineous family with two children showing preaxial brachydactyly among other features.

There are > 3 families/cases with patients showing relevant phenotypes and homozygous variants in CHSY1.
Ductal plate malformation v0.16 ARL6 Ivone Leong Marked gene: ARL6 as ready
Ductal plate malformation v0.16 ARL6 Ivone Leong Gene: arl6 has been classified as Green List (High Evidence).
Cerebral malformation v0.0 Ellen McDonagh Added Panel Cerebral malformations
Set panel types to: GMS Rare Disease Virtual
Hypotonic infant v0.0 Ellen McDonagh Added Panel Hypotonic infant
Set panel types to: GMS Rare Disease Virtual
Hereditary ataxia and cerebellar anomalies - childhood onset v0.0 Ellen McDonagh Added Panel Hereditary ataxia and cerebellar anomalies - childhood onset
Set panel types to: GMS Rare Disease Virtual
Cystic renal disease v0.0 Ellen McDonagh Added Panel Cystic renal disease
Set panel types to: GMS Rare Disease Virtual
Paediatric disorders v0.0 Ellen McDonagh Added Panel Paediatric disorders
Set panel types to: GMS Rare Disease Virtual
DDG2P v0.0 Ellen McDonagh Added Panel DDG2P
Set panel types to: GMS Rare Disease Virtual
Pituitary hormone deficiency v0.0 Ellen McDonagh Added Panel Pituitary hormone deficiency
Set panel types to: GMS Rare Disease Virtual
Hypophosphataemia or rickets v0.0 Ellen McDonagh Added Panel Hypophosphataemia or rickets
Set panel types to: GMS Rare Disease Virtual
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.0 Ellen McDonagh Added Panel Familial hyperparathyroidism
Set panel types to: GMS Rare Disease Virtual
Paediatric disorders - additional genes v0.1 Ellen McDonagh Panel types changed to
Paediatric disorders - additional genes v0.0 Ellen McDonagh Added Panel Paediatric disorders - additional genes
Set panel types to: GMS Rare Disease Virtual
Fetal anomalies v0.0 Ellen McDonagh Added Panel Fetal anomalies
Set panel types to: GMS Rare Disease Virtual
Ataxia and cerebellar anomalies - narrow panel v0.0 Ellen McDonagh Added Panel Ataxia and cerebellar anomalies - narrow panel
Set panel types to: GMS Rare Disease Virtual
White matter disorders and cerebral calcification - narrow panel v0.0 Ellen McDonagh Added Panel White matter disorders and cerebral calcification - narrow panel
Set panel types to: GMS Rare Disease Virtual
Adult onset neurodegenerative disorder v0.0 Ellen McDonagh Added Panel Neurodegenerative disorders - adult onset
Set panel types to: GMS Rare Disease Virtual
Monogenic diabetes v0.0 Ellen McDonagh Added Panel Monogenic diabetes
Set panel types to: GMS Rare Disease Virtual
Likely inborn error of metabolism v0.0 Ellen McDonagh Added Panel Inborn errors of metabolism
Set panel types to: GMS Rare Disease Virtual
Hereditary ataxia with onset in adulthood v0.0 Ellen McDonagh Added Panel Hereditary ataxia - adult onset
Set panel types to: GMS Rare Disease Virtual
Other rare neuromuscular disorders v0.1 Ellen McDonagh Panel status changed from internal to public
Other rare neuromuscular disorders v0.0 Ellen McDonagh Added Panel Neuromuscular disorders
Set panel types to: GMS Rare Disease Virtual
Ductal plate malformation v0.16 Ivone Leong List of related panels changed from to
Ductal plate malformation v0.15 RSPH9 Ivone Leong Source Emory Genetics Laboratory was added to RSPH9.
Source UKGTN was added to RSPH9.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.14 RSPH9 Ivone Leong All sources for gene: RSPH9 were removed
Ductal plate malformation v0.13 RSPH4A Ivone Leong Source Emory Genetics Laboratory was added to RSPH4A.
Source UKGTN was added to RSPH4A.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.12 RSPH4A Ivone Leong All sources for gene: RSPH4A were removed
Ductal plate malformation v0.11 IFT140 Ivone Leong Source Illumina TruGenome Clinical Sequencing Services was added to IFT140.
Source UKGTN was added to IFT140.
Source Expert list was added to IFT140.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.10 NME8 Ivone Leong Source Emory Genetics Laboratory was added to NME8.
Source UKGTN was added to NME8.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.9 NME8 Ivone Leong All sources for gene: NME8 were removed
Ductal plate malformation v0.8 IFT140 Ivone Leong All sources for gene: IFT140 were removed
Ductal plate malformation v0.7 CEP83 Ivone Leong Source Radboud University Medical Center, Nijmegen was added to CEP83.
Source UKGTN was added to CEP83.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.6 CEP83 Ivone Leong All sources for gene: CEP83 were removed
Ductal plate malformation v0.5 IFT80 Ivone Leong Source Radboud University Medical Center, Nijmegen was added to IFT80.
Source Emory Genetics Laboratory was added to IFT80.
Source UKGTN was added to IFT80.
Source Expert list was added to IFT80.
Rating Changed from No List (delete) to Green List (high evidence)
Ductal plate malformation v0.4 IFT80 Ivone Leong All sources for gene: IFT80 were removed
Ductal plate malformation v0.3 C5orf42 Ivone Leong commented on gene: C5orf42
Ductal plate malformation v0.3 C5orf42 Ivone Leong Tag new-gene-name tag was added to C5orf42.
Ductal plate malformation v0.2 TXNDC15 Ivone Leong gene: TXNDC15 was added
gene: TXNDC15 was added to Ductal plate malformation (DPM). Sources: Expert list,Literature
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNDC15 were set to Meckel syndrome
Ductal plate malformation v0.2 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)
Ductal plate malformation v0.2 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)
Ductal plate malformation v0.2 NLRP1 Ivone Leong gene: NLRP1 was added
gene: NLRP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis (617388)
Ductal plate malformation v0.2 NXPH2 Ivone Leong gene: NXPH2 was added
gene: NXPH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NXPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXPH2 were set to Nephronophthisis 2, infantile (602088)
Ductal plate malformation v0.2 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACD were set to ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553)
Ductal plate malformation v0.2 LRRC6 Ivone Leong gene: LRRC6 was added
gene: LRRC6 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19 (614935)
Ductal plate malformation v0.2 HYDIN Ivone Leong gene: HYDIN was added
gene: HYDIN was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5 (608647)
Ductal plate malformation v0.2 DNAAF5 Ivone Leong gene: DNAAF5 was added
gene: DNAAF5 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18 (614874)
Ductal plate malformation v0.2 CCDC114 Ivone Leong gene: CCDC114 was added
gene: CCDC114 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20 (615067)
Ductal plate malformation v0.2 CCDC103 Ivone Leong gene: CCDC103 was added
gene: CCDC103 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17 (614679)
Ductal plate malformation v0.2 WRAP53 Ivone Leong gene: WRAP53 was added
gene: WRAP53 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
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 (613988)
Ductal plate malformation v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989)
Ductal plate malformation v0.2 NOP10 Ivone Leong gene: NOP10 was added
gene: NOP10 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 (224230)
Ductal plate malformation v0.2 NHP2 Ivone Leong gene: NHP2 was added
gene: NHP2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
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 (613987)
Ductal plate malformation v0.2 CTC1 Ivone Leong gene: CTC1 was added
gene: CTC1 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts (612199)
Ductal plate malformation v0.2 TINF2 Ivone Leong gene: TINF2 was added
gene: TINF2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (613990)
Ductal plate malformation v0.2 DKC1 Ivone Leong gene: DKC1 was added
gene: DKC1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked (305000)
Ductal plate malformation v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Ductal plate malformation (DPM). Sources: Expert list,Literature
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068)
Ductal plate malformation v0.2 WDR35 Ivone Leong gene: WDR35 was added
gene: WDR35 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 (613610); Short-rib thoracic dysplasia 7 with or without polydactyly (614091)
Ductal plate malformation v0.2 WDR34 Ivone Leong gene: WDR34 was added
gene: WDR34 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly (615633)
Ductal plate malformation v0.2 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15 (615992)
Ductal plate malformation v0.2 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 (615985)
Ductal plate malformation v0.2 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12 (613820)
Ductal plate malformation v0.2 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360)
Ductal plate malformation v0.2 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14 (614424)
Ductal plate malformation v0.2 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 (614970); Meckel syndrome 11 (615397)
Ductal plate malformation v0.2 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2 (608091); Meckel syndrome 2 (603194)
Ductal plate malformation v0.2 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 (614465)
Ductal plate malformation v0.2 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29 (617562); Meckel syndrome 13 (617562)
Ductal plate malformation v0.2 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18 (614815); Orofaciodigital syndrome IV (258860)
Ductal plate malformation v0.2 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24 (616654); ?Meckel syndrome 8 (613885)
Ductal plate malformation v0.2 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13 (614173)
Ductal plate malformation v0.2 TCTEX1D2 Ivone Leong gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly (617405)
Ductal plate malformation v0.2 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
Ductal plate malformation v0.2 SEC61B Ivone Leong gene: SEC61B was added
gene: SEC61B was added to Ductal plate malformation (DPM). Sources: Expert list,Literature
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050)
Ductal plate malformation v0.2 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16 (615993)
Ductal plate malformation v0.2 RSPH9 Ivone Leong gene: RSPH9 was added
gene: RSPH9 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: RSPH9 was set to Unknown
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12 (612650)
Ductal plate malformation v0.2 RSPH4A Ivone Leong gene: RSPH4A was added
gene: RSPH4A was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: RSPH4A was set to Unknown
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11 (612649)
Ductal plate malformation v0.2 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7 (611560); Meckel syndrome 5 (611561); COACH syndrome (216360)
Ductal plate malformation v0.2 REN Ivone Leong gene: REN was added
gene: REN was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert 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)
Ductal plate malformation v0.2 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Ductal plate malformation v0.2 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Ductal plate malformation v0.2 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Ductal plate malformation v0.2 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Ductal plate malformation v0.2 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
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 Orofaciodigital syndrome I (311200); Joubert syndrome 10 (300804)
Ductal plate malformation v0.2 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 (606966)
Ductal plate malformation v0.2 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1 (208540); Nephronophthisis 3 (604387); Meckel syndrome 7 (267010)
Ductal plate malformation v0.2 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis 1, juvenile (256100); Joubert syndrome 4 (609583)
Ductal plate malformation v0.2 NME8 Ivone Leong gene: NME8 was added
gene: NME8 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary, 6 (610852)
Ductal plate malformation v0.2 NEK8 Ivone Leong gene: NEK8 was added
gene: NEK8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to ?Nephronophthisis 9 (613824); Renal-hepatic-pancreatic dysplasia 2 (615415)
Ductal plate malformation v0.2 NEK1 Ivone Leong gene: NEK1 was added
gene: NEK1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly (263520)
Ductal plate malformation v0.2 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Joubert syndrome 28 (617121); Bardet-Biedl syndrome 13 (615990); Meckel syndrome 1 (249000)
Ductal plate malformation v0.2 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6 (605231)
Ductal plate malformation v0.2 MAPKBP1 Ivone Leong gene: MAPKBP1 was added
gene: MAPKBP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20 (617271)
Ductal plate malformation v0.2 LRP5 Ivone Leong gene: LRP5 was added
gene: LRP5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Ductal plate malformation v0.2 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Joubert syndrome 12 (200990)
Ductal plate malformation v0.2 KIF14 Ivone Leong gene: KIF14 was added
gene: KIF14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12 (616258)
Ductal plate malformation v0.2 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 (616490)
Ductal plate malformation v0.2 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
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)
Ductal plate malformation v0.2 INVS Ivone Leong gene: INVS was added
gene: INVS was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile
Ductal plate malformation v0.2 INTU Ivone Leong gene: INTU was added
gene: INTU was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly (617925); ?Orofaciodigital syndrome XVII (617926)
Ductal plate malformation v0.2 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1 (213300)
Ductal plate malformation v0.2 IFT80 Ivone Leong gene: IFT80 was added
gene: IFT80 was added to Ductal plate malformation (DPM). Sources: Expert list,UKTGN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly (611263)
Ductal plate malformation v0.2 IFT52 Ivone Leong gene: IFT52 was added
gene: IFT52 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly (617102)
Ductal plate malformation v0.2 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly (615630)
Ductal plate malformation v0.2 IFT140 Ivone Leong gene: IFT140 was added
gene: IFT140 was added to Ductal plate malformation (DPM). Sources: UKTGN,Illumina TruGenome Clinical Sequencing Services,Expert list
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly (266920)
Ductal plate malformation v0.2 IFT122 Ivone Leong gene: IFT122 was added
gene: IFT122 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 (218330)
Ductal plate malformation v0.2 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome (236680)
Ductal plate malformation v0.2 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome (137920)
Ductal plate malformation v0.2 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Ductal plate malformation v0.2 EVC2 Ivone Leong gene: EVC2 was added
gene: EVC2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome (225500)
Ductal plate malformation v0.2 EVC Ivone Leong gene: EVC was added
gene: EVC was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (225500)
Ductal plate malformation v0.2 DYNC2LI1 Ivone Leong gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly (617088)
Ductal plate malformation v0.2 DYNC2H1 Ivone Leong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly (613091)
Ductal plate malformation v0.2 DNAL1 Ivone Leong gene: DNAL1 was added
gene: DNAL1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16 (614017)
Ductal plate malformation v0.2 DNAI2 Ivone Leong gene: DNAI2 was added
gene: DNAI2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAI2 was set to Unknown
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus (612444)
Ductal plate malformation v0.2 DNAI1 Ivone Leong gene: DNAI1 was added
gene: DNAI1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus (244400)
Ductal plate malformation v0.2 DNAH5 Ivone Leong gene: DNAH5 was added
gene: DNAH5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus (608644)
Ductal plate malformation v0.2 DNAH11 Ivone Leong gene: DNAH11 was added
gene: DNAH11 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus (611884)
Ductal plate malformation v0.2 DNAAF3 Ivone Leong gene: DNAAF3 was added
gene: DNAAF3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2 (606763)
Ductal plate malformation v0.2 DNAAF2 Ivone Leong gene: DNAAF2 was added
gene: DNAAF2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF2 was set to Unknown
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10 (612518)
Ductal plate malformation v0.2 DNAAF1 Ivone Leong gene: DNAAF1 was added
gene: DNAAF1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13 (613193)
Ductal plate malformation v0.2 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (174300)
Ductal plate malformation v0.2 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21 (615636)
Ductal plate malformation v0.2 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Orofaciodigital syndrome VI (277170); Joubert syndrome 17 (614615)
Ductal plate malformation v0.2 CEP83 Ivone Leong gene: CEP83 was added
gene: CEP83 was added to Ductal plate malformation (DPM). Sources: UKTGN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to Nephronophthisis 18 (615862)
Ductal plate malformation v0.2 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15 (614464)
Ductal plate malformation v0.2 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Meckel syndrome 4 (611134); Joubert syndrome 5 (610188); ?Bardet-Biedl syndrome 14 (615991)
Ductal plate malformation v0.2 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15 (614845)
Ductal plate malformation v0.2 CEP120 Ivone Leong gene: CEP120 was added
gene: CEP120 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Joubert syndrome 31 (617761); Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Ductal plate malformation v0.2 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to Joubert syndrome 25 (616781)
Ductal plate malformation v0.2 CCDC40 Ivone Leong gene: CCDC40 was added
gene: CCDC40 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: CCDC40 was set to Unknown
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15 (613808)
Ductal plate malformation v0.2 CCDC39 Ivone Leong gene: CCDC39 was added
gene: CCDC39 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: CCDC39 was set to Unknown
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14 (613807)
Ductal plate malformation v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360)
Ductal plate malformation v0.2 C2CD3 Ivone Leong gene: C2CD3 was added
gene: C2CD3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to ?Orofaciodigital syndrome XIV (615948)
Ductal plate malformation v0.2 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9 (615986)
Ductal plate malformation v0.2 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7 (615984)
Ductal plate malformation v0.2 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5 (615983)
Ductal plate malformation v0.2 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4 (615982)
Ductal plate malformation v0.2 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2 (615981)
Ductal plate malformation v0.2 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12 (615989)
Ductal plate malformation v0.2 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10 (615987)
Ductal plate malformation v0.2 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 (209900)
Ductal plate malformation v0.2 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175)
Ductal plate malformation v0.2 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)
Ductal plate malformation v0.2 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to {Bardet-Biedl syndrome 1, modifier of} (209900); Bardet-Biedl syndrome 3 (600151)
Ductal plate malformation v0.2 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8 (612291)
Ductal plate malformation v0.2 ANKS6 Ivone Leong gene: ANKS6 was added
gene: ANKS6 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16
Ductal plate malformation v0.2 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome (203800)
Ductal plate malformation v0.2 ALG8 Ivone Leong gene: ALG8 was added
gene: ALG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874)
Ductal plate malformation v0.2 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3 (608629)
Ductal plate malformation v0.2 AGT Ivone Leong gene: AGT was added
gene: AGT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis (267430)
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.545 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to 29239743; 15883328
Early onset or syndromic epilepsy v0.544 TREX1 Rebecca Foulger commented on gene: TREX1: Rice et al 2007 (PMID:17846997) collected clinical data for 123 individuals from 94 families with variants in TREX1, RNASEH2A, RNASEH2B, or RNASEH2C. Five individuals with TREX1 biallelic variants experienced neonatal seizures (Table 2).
Dilated Cardiomyopathy and conduction defects v1.34 PPP1R13L Ellen McDonagh gene: PPP1R13L was added
gene: PPP1R13L was added to Dilated Cardiomyopathy and conduction defects. Sources: Literature
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters. There is also evidence in animals - deficient mice die suddenly of cardiac death (PMID: 25691752), and in 13 Poll Hereford cattle with Cardiomyopathy and woolly haircoat syndrome (a lethal autosomal recessive disorder) a frameshift variant was identified, predicted to cause a premature stop codon. This gene is not currently associated with a disease in OMIM or Gene2Phenotype.
Sources: Literature
Intellectual disability v2.530 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Intellectual disability v2.530 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Intellectual disability v2.530 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Intellectual disability v2.530 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Cerebellar hypoplasia v1.23 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion was agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Malformations of cortical development v1.160 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v1.159 TUBA8 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and DD-Gene2Phenotype.
Malformations of cortical development v1.159 TUBA8 Rebecca Foulger Mode of inheritance for gene: TUBA8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma v1.19 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Ocular coloboma v1.19 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development v1.158 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Malformations of cortical development v1.158 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.256 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Limb disorders v0.256 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.40 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.40 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anophthalmia or microphthalmia v1.15 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Anophthalmia or microphthalmia v1.15 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger commented on gene: TSEN34
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to 18711368
Early onset or syndromic epilepsy v0.543 TSEN34 Rebecca Foulger Mode of inheritance for gene: TSEN34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.542 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to
Early onset or syndromic epilepsy v0.541 TSEN34 Rebecca Foulger Phenotypes for gene: TSEN34 were changed from to ?Pontocerebellar hypoplasia type 2C, 612390
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger commented on gene: TREX1: PMID:29239743 reviewed the records of 24 unrelated patients with Aicardi-Goutières syndrome from 6 tertiary hospitals in different Arab countries. The most common presenting signs were developmental delay and seizures. 1 patient (patient 23) had a biallelic variant in TREX1 (c.341G>A) and presented with seizures. The patient presented in utero.
Early onset or syndromic epilepsy v0.540 TREX1 Rebecca Foulger Publications for gene: TREX1 were set to
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Added comment: Comment on mode of inheritance: AR and AD mode of inheritance supported by OMIM.
Early onset or syndromic epilepsy v0.539 TREX1 Rebecca Foulger Mode of inheritance for gene: TREX1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.538 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; seizures
Early onset or syndromic epilepsy v0.537 TREX1 Rebecca Foulger Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Marked gene: TRIM8 as ready
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.536 TRIM8 Rebecca Foulger Phenotypes for gene: TRIM8 were changed from to Early-onset epileptic encephalopathy (EOEE); EE; Seizures
Early onset or syndromic epilepsy v0.535 TRIM8 Rebecca Foulger Publications for gene: TRIM8 were set to
Early onset or syndromic epilepsy v0.534 TRIM8 Rebecca Foulger Mode of inheritance for gene: TRIM8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Classified gene: TRIM8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: 6 unrelated cases of patients with EE and TRIM8 variants reviewed by the recent PMID:30244534 (includes the two cases previously reported cases in PMID:27346735 and PMID:23934111 plus 4 new cases). Therefore sufficient evidence to support inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.533 TRIM8 Rebecca Foulger Gene: trim8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Marked gene: TRIP13 as ready
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Classified gene: TRIP13 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: 2 patients with seizures and TRIP13 variants reported in Yost et al., 2017 (PMID:28553959). Further cases needed for inclusion on diagnostic panel.
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.531 TRIP13 Rebecca Foulger Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger commented on gene: TRIP13
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Tag watchlist tag was added to gene: TRIP13.
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Marked gene: TSEN2 as ready
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Classified gene: TSEN2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Seizures are a clinical symptom of Pontocerebellar hypoplasia in some cases, and three patients with seizures and TSEN2 variants reported (PMID:23562994, 20952379).
Early onset or syndromic epilepsy v0.529 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Added comment: Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, 612389
Early onset or syndromic epilepsy v0.527 TSEN2 Rebecca Foulger Mode of inheritance for gene: TSEN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Marked gene: TSEN54 as ready
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Classified gene: TSEN54 as Green List (high evidence)
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Seizures are a clinical phenotype of both MIM:277470 and MIM:225753. Sufficient (>3) cases of seizures in Pontocerebellar hypoplasia patients with TSEN54 variants for inclusion on panel (PMIDs 20956791,7854532,26701950,20952379).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.525 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to 20956791,7854532,26701950,20952379
Early onset or syndromic epilepsy v0.524 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to
Early onset or syndromic epilepsy v0.523 TSEN54 Rebecca Foulger Mode of inheritance for gene: TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.522 TSEN54 Rebecca Foulger Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Marked gene: TSFM as ready
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Classified gene: TSFM as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Added comment: Comment on list classification: Rated gene as Amber: Phenotype is appropriate for panel since MIM:610505 can present with seizures. Variants in TSFM are causative for combined oxidative phosphorylation deficiency-3 (MIM:610505) but seizures reported in only 2 unrelated patients so far (PMID:17033963 and 21119709). Further reports of seizures/epilepsy as part of MIM:610505 are required for a diagnostic rating.
Early onset or syndromic epilepsy v0.521 TSFM Rebecca Foulger Gene: tsfm has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Smits et al (PMID:21119709) identified a homozygous R333W mutation in a patient with MIM:610505. The patient had epilepsy.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger commented on gene: TSFM: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM.
Early onset or syndromic epilepsy v0.520 TSFM Rebecca Foulger Mode of inheritance for gene: TSFM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.519 TSFM Rebecca Foulger Publications for gene: TSFM were set to
Early onset or syndromic epilepsy v0.518 TSFM Rebecca Foulger Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, 610505; seizures
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger Tag watchlist tag was added to gene: TSFM.
Early onset or syndromic epilepsy v0.517 TSFM Rebecca Foulger commented on gene: TSFM
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Marked gene: TUBA8 as ready
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Added comment: Comment when marking as ready: Amber rating appropriate until further TUBA8 cases are confirmed. Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.517 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180 to Cortical dysplasia, complex, with other brain malformations 8, 613180; seizures
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Tag watchlist tag was added to gene: TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. The phenotype is appropriate for the panel as seizures are part of MIM:613180, but insufficient cases for diagnostic rating. TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180), and TUBA8 is on the UKGTN 43 gene panel for brain malformations. HOWEVER, the 4 literature cases (with all 4 patients showing seizures) come from 2 consanguineous families reported in one 2009 paper (PMID:19896110), and at least PMID:25008804 questions whether the families are related.

Leeds, Oxford (Usha Kini) and Cardiff genetic testing labs all confirmed (personal communication via email) that they have not seen any TUBA8 cases for their cortical malformations panel.

Based on this evidence, Helen Brittain, Clinical Fellow agreed on Amber rating for TUBA8.
Early onset or syndromic epilepsy v0.516 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Classified gene: SPPL2A as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Added comment: Comment on list classification: New gene recommended by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.27 SPPL2A Louise Daugherty Gene: sppl2a has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.26 SPPL2A Louise Daugherty gene: SPPL2A was added
gene: SPPL2A was added to Primary immunodeficiency disorders. Sources: Literature,Expert Review
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30264912; 30127434
Phenotypes for gene: SPPL2A were set to Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity
Review for gene: SPPL2A was set to GREEN
Added comment: New gene suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) PMID:30264912. A new genetic etiology of MSMD has recently been described in three patients from two kindreds originating from Morocco and Turkey presenting Bacille Calmette‐Guerin (BCG) disease a few months after vaccination.
Rated Green due to 2 reported kindreds, functional evidence and a supporting mouse model PMID: 30264912;30127434
Sources: Literature, Expert Review
Primary immunodeficiency or monogenic inflammatory bowel disease v1.25 Louise Daugherty List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Added comment: Comment on publications: Added publication PMID:30264912 as suggested by external review (pers comm.) Vanessa Sancho Shimizu (Imperial College London) to support mode of inheritance change to reflect both biallelic and monoallelic.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.24 IFNGR2 Louise Daugherty Publications for gene: IFNGR2 were set to 9616207; 15924140; 18625743
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Added comment: Comment on mode of inheritance: From external review the MOI was changed from biallelic to both biallelic and monoallelic to cover the AR and AD options in the table in PMID:30264912
Primary immunodeficiency or monogenic inflammatory bowel disease v1.23 IFNGR2 Louise Daugherty Mode of inheritance for gene: IFNGR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.77 C2CD3 Eleanor Williams Publications for gene: C2CD3 were set to 24997988; 27094867 - novel compound heterozygous C2CD3 mutations reported in two fetuses from the same family, with a clinical presentation dominated by skeletal dysplasia in addition to facial dysmorphism
and pre-axial polydactyly, with no microcephaly although both displayed some cerebellar abnormalities. "A clinical diagnosis of a skeletal ciliopathy was made, but due to the clinical overlap between various forms of OFDS, SRPS and JATD, a more specific diagnosis could not be established." Analysis of fibroblast cultures derived from one of these fetuses revealed a reduced ability to form cilia, consistent with previous studies in C2cd3-mutant mouse and chicken cells; 26044959
Rare multisystem ciliopathy disorders v1.76 C2CD3 Eleanor Williams commented on gene: C2CD3
Limb disorders v0.255 DDX59 Eleanor Williams Marked gene: DDX59 as ready
Limb disorders v0.255 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Limb disorders v0.255 DDX59 Eleanor Williams Phenotypes for gene: DDX59 were changed from Polydactyly to Polydactyly; Orofaciodigital syndrome V 174300
Limb disorders v0.254 DDX59 Eleanor Williams Publications for gene: DDX59 were set to
Limb disorders v0.253 DDX59 Eleanor Williams Mode of inheritance for gene: DDX59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.252 DDX59 Eleanor Williams Classified gene: DDX59 as Green List (high evidence)
Limb disorders v0.252 DDX59 Eleanor Williams Added comment: Comment on list classification: > 3 families/cases with Orofaciodigital syndrome including polydactyly phenotype and a variant in this gene.
Limb disorders v0.252 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Limb disorders v0.251 DDX59 Eleanor Williams commented on gene: DDX59
Rare multisystem ciliopathy disorders v1.76 DDX59 Eleanor Williams Added comment: Comment on publications: Adding publications from Zornitza Stark
Rare multisystem ciliopathy disorders v1.76 DDX59 Eleanor Williams Publications for gene: DDX59 were set to 23972372
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Classified gene: DDX59 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Added comment: Comment on list classification: 5 families/cases now reported with an orofaciodigital syndrome phenotype and several variants so rating this gene green.
Rare multisystem ciliopathy disorders v1.75 DDX59 Eleanor Williams Gene: ddx59 has been classified as Green List (High Evidence).
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh commented on gene: PPP1R13L: This gene is not currently associated with a disease in OMIM or Gene2Phenotype.
Intellectual disability v2.529 PIK3CA Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Intellectual disability v2.529 PIK3CA Rebecca Foulger Mode of inheritance for gene: PIK3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Marked gene: MYH14 as ready
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Classified gene: MYH14 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Added comment: Comment on list classification: Rated Amber as there are 2 cases reported plus some functional data.
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 EDNRB Eleanor Williams commented on gene: EDNRB: EDNRB is associated with ABCD syndrome, Waardenburg syndrome, type 4A and {Hirschsprung disease, susceptibility to, 2} in OMIM and ABCD SYNDROME in Gene2Phenotype. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine and patients with Waardenburg syndrome can show Hirschsprung disease. Hirschspring disease is covered by the Familial Hirschsprung Disease panel in PanelApp.
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh gene: PPP1R13L was added
gene: PPP1R13L was added to Sudden death in young people. Sources: Literature
watchlist tags were added to gene: PPP1R13L.
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters.
Sources: Literature
Malformations of cortical development v1.157 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
Malformations of cortical development v1.157 MTOR Rebecca Foulger Added comment: Comment on list classification: Promoted from Amber to Green due to ID panel review there is enough evidence to support MTOR and Focal cortical dysplasia, type II.
Malformations of cortical development v1.157 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Classified gene: ICK as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: Sufficient (3) cases of ICK variants in Endocrine-cerebroosteodysplasia (ECO) patients plus functional studies showing role of ICK in ciliogenesis. A second ECO patient reported in PMID:27069622 showed phenotypes resembling short-rib thoracic dysplasia with polydactyly (SRTD), and the authors say this provides additional support for inclusion of ECO syndrome in the severe ciliary disease spectrum. Helen Brittain confirmed the Green rating saying the phenotype overlaps with Jeune syndrome, and in view of the skeletal, polydactyly, cystic kidney aspects of this disorder HB is happy there is sufficient overlap for inclusion.

plus
Rare multisystem ciliopathy disorders v1.74 ICK Rebecca Foulger Gene: ick has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.73 ICK Rebecca Foulger commented on gene: ICK
Rare multisystem ciliopathy disorders v1.73 ICK Rebecca Foulger gene: ICK was added
gene: ICK was added to Rare multisystem ciliopathy disorders. Sources: Literature
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD)
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Marked gene: CDX2 as ready
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Classified gene: CDX2 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Added comment: Comment on list classification: 2 cases (conference abstract) plus functional evidence so rating Amber.
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Classified gene: TTC7A as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Added comment: Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Gene: ttc7a has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Marked gene: RFX6 as ready
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Classified gene: RFX6 as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Added comment: Comment on list classification: Rating this gene red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Marked gene: RECQL4 as ready
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600 to Baller-Gerold syndrome 218600; Rothmund-Thomson syndrome 268400
Non-syndromic familial congenital anorectal malformations v0.114 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to 15964893; 28358413
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Classified gene: IFT27 as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber based on presence of second paper: PMID:29704304 (2018) with ciliopathy phenotype, and added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.72 IFT27 Rebecca Foulger Gene: ift27 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Classified gene: RECQL4 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as green as 3 cases/families with probands with either imperforate anus or anus anteposition and a variant in RECQL4 (PMIDs: 15964893, 19291770, 24635570)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.71 IFT27 Rebecca Foulger commented on gene: IFT27
Rare multisystem ciliopathy disorders v1.71 IFT52 Rebecca Foulger commented on gene: IFT52: PMID:26880018 (2016, included in Alice's review) examined a child from a consanguineous Indian family who had skeletal dysplasia and additional phenotypes including short hands and feet and postaxial polydactyly. WES revealed a nonsense variant p.R142X in IFT52. The proband's unaffected consanguineous parents were heterozygous for the mutation.

PMID:27466190 (Zhang 2016, from Zornitza's review) report a non-consanguineous family with two fetuses affected by MIM:617102 without polydactyly, and compound heterozygous variant in IFT52. The authors also present functional data for ciliopathies.

PMID:30242358 (2018, Chen et al) provide a third case: They identified a homozygous missense variation in IFT52, c.556A>G (p.T186A), carried by a patient with syndromic ciliopathy, presenting mild SRTD (skeletal ciliopathy) and Liber congenital amaurosis. The variant was absent in both unaffected siblings. This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy, and also provides functional information for the role of IFT52 in primary ciliary function.
Rare multisystem ciliopathy disorders v1.71 IFT52 Rebecca Foulger Publications for gene: IFT52 were set to 26880018
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Classified gene: IFT52 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: The 2018 paper (PMID:30242358) takes the number of literature cases of IFT52 homozgyous variants causative for ciliopathy to THREE. Plus functional evidence for role of IFT52 in cilial function (PMIDs:27466190 and 30242358).
Rare multisystem ciliopathy disorders v1.70 IFT52 Rebecca Foulger Gene: ift52 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Marked gene: MYCN as ready
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Added comment: Comment on list classification: Keep Amber rating as only 1 confirmed case of anal atresia and a variant in MYCN. Another case of a patient with Feingold syndrome 1 and anal atresia has been reported but no gene analysis.
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Classified gene: SUFU as Amber List (moderate evidence)
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Amber. Probable DD-G2P gene for Joubert Syndrome. 2 unrelated families from 1 paper. Biochemical assays in the paper (PMID:28965847) show that SUFU missense variants impair GLI3 binding, but further cases and/or animal model required for diagnostic rating.
Rare multisystem ciliopathy disorders v1.69 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Classified gene: TXNDC15 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: 3 Meckel-Gruber patients with 3 different TXNDC15 variants reported in PMID:27894351 (2 consanguineous Saudi and Pakistani) plus functional data (Patient fibroblasts had aberrant ciliogenesis). Helen Brittain confirms that sufficient variants and appropriate phenotype for inclusion on panel.
Rare multisystem ciliopathy disorders v1.68 TXNDC15 Rebecca Foulger Gene: txndc15 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Marked gene: CASK as ready
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.110 CASK Eleanor Williams Mode of inheritance for gene: CASK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Marked gene: MNX1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Marked gene: MID1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Added comment: Comment on phenotypes: Added Gene2Phenotype phenotype
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I 300000 to Opitz GBBB syndrome, type I 300000; OPITZ G/BBB SYNDROME, X-LINKED
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Marked gene: MED12 as ready
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Gene: med12 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams commented on gene: MED12: Note that in Gene2Phenotype the Mutation consequence summary is "uncertain".
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Marked gene: GLI3 as ready
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510
Non-syndromic familial congenital anorectal malformations v0.107 GLI3 Eleanor Williams Publications for gene: GLI3 were set to
Non-syndromic familial congenital anorectal malformations v0.106 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Marked gene: FOXF1 as ready
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.105 ZIC3 Eleanor Williams Phenotypes for gene: ZIC3 were changed from anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked; VACTERLX 314390 to anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked 314390; VACTERLX 314390
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM and Gene2Phenotype
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Phenotypes for gene: FANCB were changed from Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus to Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus; Fanconi anemia, complementation group B 300514; FANCB-RELATED FANCONI ANEMIA
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Marked gene: FAM58A as ready
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Added comment: Comment when marking as ready: Marked as ready, but noted that only Build 38 Ensembl gene is listed.
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Marked gene: CDX1 as ready
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Marked gene: ZIC3 as ready
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Added comment: Comment when marking as ready: Gene checked.
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Marked gene: FANCB as ready
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Gene: fancb has been classified as Green List (High Evidence).
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Tag watchlist tag was added to gene: ADPRHL2.
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Classified gene: ADPRHL2 as Amber List (moderate evidence)
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer as Amber. However, majority of people have seizures and only a minority have some intellectual component and this seems to later onset /developmental regression, the clinical picture is one of a stress-induced neurodegenerative disease of variable progression with developmental delay, intellectual disability, mild cerebellar atrophy and recurring seizures. However I am not sure if this gene is within the scope of the ID panel and as they all present with seizures so is better presented on Genetic Epilepsy Syndromes panel. So pending further cases/evidence will leave gene as Amber and watchlist
Intellectual disability v2.528 ADPRHL2 Louise Daugherty Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Classified gene: PEX10 as Green List (high evidence)
Early onset or syndromic epilepsy v0.515 PEX10 Sarah Leigh Gene: pex10 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.514 PEX10 Sarah Leigh gene: PEX10 was added
gene: PEX10 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 20695019
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870
Review for gene: PEX10 was set to GREEN
Added comment: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen). Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Classified gene: PEX13 as Green List (high evidence)
Early onset or syndromic epilepsy v0.513 PEX13 Sarah Leigh Gene: pex13 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.512 PEX13 Sarah Leigh gene: PEX13 was added
gene: PEX13 was added to Genetic Epilepsy Syndromes. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 10332040; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883
Review for gene: PEX13 was set to GREEN
Added comment: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883. Seizures are a major feature of this phenotype (clinical fellow Arianna Tucci).
Sources: Literature
Intellectual disability v2.527 CUX2 Louise Daugherty Classified gene: CUX2 as Green List (high evidence)
Intellectual disability v2.527 CUX2 Louise Daugherty Added comment: Comment on list classification: More than three unrelated individuals reported in the literature, ID is part of the phenotype. Recent publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.527 CUX2 Louise Daugherty Gene: cux2 has been classified as Green List (High Evidence).
Intellectual disability v2.526 CUX2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM/MIMid and external review
Intellectual disability v2.526 CUX2 Louise Daugherty Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, 618141; Seizures; Intellectual disability; Autistic behavior
Intellectual disability v2.525 CUX2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from publication and external review
Intellectual disability v2.525 CUX2 Louise Daugherty Mode of inheritance for gene: CUX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability v2.524 CUX2 Louise Daugherty Added comment: Comment on publications: added publications suggested by external reviewer which support gene-disease association and rating of this gene to Green. Intellectual disability is a prominent feature, all nine unrelated patients reported by PubMed: 29630738 had severe intellectual disability, and 7 were nonverbal.
Intellectual disability v2.524 CUX2 Louise Daugherty Publications for gene: CUX2 were set to 21331220; 26350204
Intellectual disability v2.523 GTPBP2 Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence)
Intellectual disability v2.523 GTPBP2 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green. At least 4 variants homozygous variants identified in 4 unrelated cases, common features included developmental delay and severe intellectual disability.
Intellectual disability v2.523 GTPBP2 Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence).
Intellectual disability v2.522 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM and MIMid
Intellectual disability v2.522 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome, 617988; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added additional phenotype suggested by external reviewer
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome 617988 to Jaberi-Elahi syndrome 617988; Global developmental delay; Intellectual disability; Seizures
Intellectual disability v2.521 IRF2BPL Louise Daugherty Added comment: Comment on phenotypes: added MIMid from OMIM and phenotype data
Intellectual disability v2.521 IRF2BPL Louise Daugherty Phenotypes for gene: IRF2BPL were changed from Global developmental delay; Developmental regression; Seizures; Ataxia to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Global developmental delay, Developmental regression, Seizures, Ataxia
Intellectual disability v2.520 IRF2BPL Louise Daugherty Classified gene: IRF2BPL as Green List (high evidence)
Intellectual disability v2.520 IRF2BPL Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.520 IRF2BPL Louise Daugherty Gene: irf2bpl has been classified as Green List (High Evidence).
Intellectual disability v2.519 IRF2BPL Louise Daugherty Added comment: Comment on publications: Added publication suggested by external reviewer. PMID: 30166628 is a recent publication on IRF2BPL-related phenotypes and reports on 11 unrelated individuals with de novo heterozygous truncating variants. Most individuals displayed complex neurological phenotypes, including delayed psychomotor development, variable Intellectual disability, developmental stagnation or cognitive decline preceded, accompanied or followed by the onset of seizures
Intellectual disability v2.519 IRF2BPL Louise Daugherty Publications for gene: IRF2BPL were set to 30057031; 28135719; 25363768
Intellectual disability v2.518 RORA Louise Daugherty Classified gene: RORA as Green List (high evidence)
Intellectual disability v2.518 RORA Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three affected individuals from unrelated families reported with at least 5 variants in this gene being reported, Intellectual disability was reported in the majority of cases and is a main feature of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.518 RORA Louise Daugherty Gene: rora has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Hereditary spastic paraplegia v1.67 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.66 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants.
Genomics England clinical team also thought the gene was relevant to the Hereditary spastic paraplegia.
Sources: Expert Review
Intellectual disability v2.517 SLC1A4 Louise Daugherty Classified gene: SLC1A4 as Green List (high evidence)
Intellectual disability v2.517 SLC1A4 Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green.
Intellectual disability v2.517 SLC1A4 Louise Daugherty Gene: slc1a4 has been classified as Green List (High Evidence).
Intellectual disability v2.516 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Intellectual disability. Sources: Expert Review
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Intellectual disability
Review for gene: SLC1A4 was set to GREEN
Added comment: From review left on the Genetic Epilepsy Syndromes panel by Zornitza Stark (Australian Genomics) 4 Sep 2018, 3:29 a.m. Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants. Gene is also relevant to the ID panel.
Sources: Expert Review
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Added comment: Comment on list classification: Based on evidence in the literature and from external review, Sarah Leigh on 16 Oct 2018 classified gene: KCNK4 as Green List (high evidence) on Genetic Epilepsy Syndromes panel v0.504. However, due to a data outage in PanelApp at the time the rating of this particular gene on this panel was not updated eg: the rating of a gene was changed, but was not reflected in production however action was logged in the activity. Issue has now been solved so the rating of this gene is now being changed to Green as it will now be reflected in production to represent the required update
Early onset or syndromic epilepsy v0.510 KCNK4 Louise Daugherty Gene: kcnk4 has been classified as Green List (High Evidence).
Intellectual disability v2.515 PCGF2 Louise Daugherty Mode of pathogenicity for gene: PCGF2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v2.514 PCGF2 Louise Daugherty Added comment: Comment on publications: Added PMID: 30343942 to support upgrading of this gene to green
Intellectual disability v2.514 PCGF2 Louise Daugherty Publications for gene: PCGF2 were set to 25529582; 25533962
Intellectual disability v2.513 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system to Intellectual disability; dysmorphic features; Global developmental delay; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.512 PCGF2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by external reviewer/ from PMID:30343942
Intellectual disability v2.512 PCGF2 Louise Daugherty Phenotypes for gene: PCGF2 were changed from Intellectual disability; dysmorphic features to Intellectual disability; dysmorphic features; Global developmental delay; Intellectual disability; Abnormality of the cardiovascular system; Abnormality of the cerebrum; Abnormality of the skeletal system
Intellectual disability v2.511 PCGF2 Louise Daugherty Classified gene: PCGF2 as Green List (high evidence)
Intellectual disability v2.511 PCGF2 Louise Daugherty Added comment: Comment on list classification: Recent publication suggested by external reviewer PMID: 30343942 supports the rating of this gene to be Green
Intellectual disability v2.511 PCGF2 Louise Daugherty Gene: pcgf2 has been classified as Green List (High Evidence).
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Deleted their comment
Intellectual disability v2.510 PCGF2 Louise Daugherty commented on gene: PCGF2: removed watchlist tag
Intellectual disability v2.510 PCGF2 Louise Daugherty Tag watchlist was removed from gene: PCGF2.
Clefting v1.32 DVL3 Louise Daugherty Classified gene: DVL3 as Green List (high evidence)
Clefting v1.32 DVL3 Louise Daugherty Added comment: Comment on list classification: changed rating from Red to Green. There is enough evidence to support the upgrading of the rating of this gene
Clefting v1.32 DVL3 Louise Daugherty Gene: dvl3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Added comment: Comment on phenotypes: Added phenotype as suggested by external review and checked with OMIM
Early onset or syndromic epilepsy v0.509 RAB11B Louise Daugherty Phenotypes for gene: RAB11B were changed from to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Added comment: Comment on mode of inheritance: updated MOI as suggested by external reviewer
Early onset or syndromic epilepsy v0.508 RAB11B Louise Daugherty Mode of inheritance for gene: RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.510 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Structural basal ganglia disorders v1.8 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Hyperammonaemia v1.8 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Ketotic hypoglycaemia v1.2 MUT Louise Daugherty commented on gene: MUT
Hyperammonaemia v1.8 MUT Louise Daugherty commented on gene: MUT
Structural basal ganglia disorders v1.8 MUT Louise Daugherty commented on gene: MUT
Undiagnosed metabolic disorders v1.78 MUT Louise Daugherty commented on gene: MUT
Intellectual disability v2.510 MUT Louise Daugherty commented on gene: MUT
Unexplained kidney failure in young people v1.19 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Proteinuric renal disease v1.11 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Unexplained kidney failure in young people v1.19 GIF Louise Daugherty commented on gene: GIF
Undiagnosed metabolic disorders v1.78 GIF Louise Daugherty commented on gene: GIF
Proteinuric renal disease v1.11 GIF Louise Daugherty commented on gene: GIF
Skeletal dysplasia v1.127 WISP3 Louise Daugherty commented on gene: WISP3
Skeletal dysplasia v1.127 WISP3 Louise Daugherty Tag new-gene-name tag was added to gene: WISP3.
Congenital disorders of glycosylation v1.19 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28733338, 30221345; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Short QT syndrome v0.1 ABCC9 Jules Hancox gene: ABCC9 was added
gene: ABCC9 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: ABCC9 was set to Unknown
Publications for gene: ABCC9 were set to 21383000; 15569843; 27283775
Phenotypes for gene: ABCC9 were set to short qt; ventricular tachycardia; atrial fibrillation
Mode of pathogenicity for gene: ABCC9 was set to Other
Review for gene: ABCC9 was set to RED
Added comment: Would likely be gain of function mutations.

The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. ABCC9 encodes Sur2A and Sur2B which are components of the K(ATP) channel.

Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with KCNJ2 (another component of the KATP channel.

A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: Literature
Short QT syndrome v0.1 KCNJ8 Jules Hancox gene: KCNJ8 was added
gene: KCNJ8 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNJ8 was set to Unknown
Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775
Phenotypes for gene: KCNJ8 were set to short qt; ventricular tachycardia; atrial fibrillation
Mode of pathogenicity for gene: KCNJ8 was set to Other
Review for gene: KCNJ8 was set to RED
Added comment: Would be gain of function mutations.

The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. KCNJ8 encodes Kir6.1 which is a component of the K(ATP) channel.

Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with SUR2A (another component of the KATP channel.

A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 IKBKB Zornitza Stark reviewed gene: IKBKB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30337470; Phenotypes: combined immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.510 REEP1 Eleanor Williams Deleted their review
Intellectual disability v2.510 REEP1 Eleanor Williams commented on gene: REEP1
Limb disorders v0.249 RBM10 Eleanor Williams commented on gene: RBM10
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Clefting v1.31 DVL3 Louise Daugherty gene: DVL3 was added
gene: DVL3 was added to Clefting. Sources: Other
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 26924530; 29575616
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894
Review for gene: DVL3 was set to GREEN
Added comment: PMID: 26924530 White et al. (2016) described five patients with Robinow syndrome-3 and identified heterozygosity for mutations in DVL3, all predicted to result in a frameshift to the -1 reading frame and a premature termination codon in the last exon.
From Gel clinical team: Stittrich et al (PMID: 26924530 ) looked for variants in DVL3 in patients with Robinow syndrome and no previously identified mutation; because mutations had previously described in DVL1 and there was functional redundancy between the genes. They identified 4 de novo frameshift variants in their cohort of 17 patients. Danyal et al (PMID: 29575616) identified a frame shift variant in a further patient with Robinow syndrome.
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams edited their review of gene: RECQL4: Changed publications: 24635570, 22347665, 1583650
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty edited their review of gene: MFSD8: Changed publications: 30249282, 30144815, 30301600, 28586915
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams commented on gene: RECQL4: From Genomics England clinical team:

PMID:24635570 1 individual with anteriorly placed anus and RECQL4 mutation (diagnosed with Rothmund-Thomson syndrome)
PMID: 22347665 1 individual with Baller-Gerold syndrome and imperforate anus, no mutational analysis
PMID: 1583650 1 individual as above, also mentions 10 other reported cases of BGS, all with anteriorly placed anus; no mutational analysis
Early onset or syndromic epilepsy v0.507 MFSD8 Louise Daugherty reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28586915; Phenotypes: MFSD8-related neuronal ceroid lipofuscinosis, CLN7 disease, late infantile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19046187; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark Deleted their review
Early onset or syndromic epilepsy v0.507 TRIM8 Zornitza Stark edited their review of gene: TRIM8: Added comment: Please note new publication reporting 4 additional patients presenting with EE and de novo truncating mutations of TRIM8.; Changed rating: GREEN; Changed publications: 27346735, 30244534; Set current diagnostic: yes
Early onset or syndromic epilepsy v0.507 CACNA1E Zornitza Stark reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: None; Publications: Am J Hum Genet, Helbig et al, not yet on PubMed; Phenotypes: epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v2.510 EMC1 Konstantinos Varvagiannis gene: EMC1 was added
gene: EMC1 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EMC1 were set to 26942288; 29271071
Phenotypes for gene: EMC1 were set to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875
Penetrance for gene: EMC1 were set to Complete
Review for gene: EMC1 was set to GREEN
gene: EMC1 was marked as current diagnostic
Added comment: Harel et al. (PMID: 26942288) describe 7 individuals from 3 families with biallelic pathogenic variants in EMC1.

In the first family, a single individual (born to non-consanguineous parents) was found to harbor a homozygous frameshift variant in a small (approx. 100 kb) stretch of absence of heterozygosity. The patients in the other two families were homozygous for missense variants (private to each family) in the context of parental consanguinity.

The common phenotype was suggestive of a progressive neurodegenerative disorder and consisted of hypotonia, severe developmental delay with marked speech delay, diminished deep tendon reflexes, cerebellar atrophy, vision as well as skeletal problems. Seizures were a feature in one subject.

One further patient from an additional (fourth) family was found to have a similar but milder phenotype and was only found to harbor a de novo missense variant in EMC1 following trio exome sequencing. Sanger sequencing of the promoter region as well as CNV calling from the exome data failed to reveal other variants in this specific individual.

Similarly to what has been observed in other genes the authors propose that both monoallelic and biallelic pathogenic variants may be causative of the specific phenotype, though the presentation may be more severe in case of biallelic variants.

Altogether this study reports 1 homozygous frameshift and 3 missense variants (2 of the latter found in homozygous state and one as a de novo heterozygous mutation). //

Geetha et al. (PMID: 29271071) describe an individual born to consanguineous parents presenting with hypotonia, developmental delay, and cerebellar atrophy as well as early onset epilepsy. Exome sequencing demonstrated a homozygous splice variant in EMC1. This variant was demonstrated to result to retention of intron 11 upon RNA sequencing. This was predicted to lead to premature truncation of the protein. //

EMC1 is associated in OMIM with Cerebellar atrophy, visual impairment, and psychomotor retardation (MIM 616875) for which an autosomal recessive inheritance mode is retained. //

Apart from the variants reported in the previous studies [p.Pro874Argfs*21, p.Thr82Met, p.Gly868Arg, p.Gly471Arg, c.1212+1G>A - NM_015047.2] further variants have been submitted in ClinVar as likely pathogenic (Variation IDs : 521479, 445564). //

The gene has been included in intellectual disability gene panels offered by a few other diagnostic labs. //

As a result this gene can be considered for inclusion in the panel as green (or amber).
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.507 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

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A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

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Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

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As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Intellectual disability v2.510 CACNA1E Konstantinos Varvagiannis gene: CACNA1E was added
gene: CACNA1E was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to 29942082
Phenotypes for gene: CACNA1E were set to Global developmental delay; Intellectual disability; Seizures; Dystonia; Congenital contracture; Macrocephaly
Penetrance for gene: CACNA1E were set to Incomplete
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: Helbig et al. (https://doi.org/10.1016/j.ajhg.2018.09.006) report on 30 individuals with pathogenic variants in CACNA1E.

The phenotype was consistent with a developmental and epileptic encephalopathy, with hypotonia, early-onset and refractory seizures, severe to profound developmental delay and intellectual disability. Additional relatively common features included hyperkinetic movement disorder (severe dystonia which was observed in 40%, other dyskinesias in another 20%), congenital joint contractures of variable degree and joint involvement (approx. 40% of individuals) and macrocephaly (approx. 40%). There were no common facial dysmorphic features observed.

Of note, epilepsy was not a feature in 4 cases (age 1 to 4 years) so few of these individuals may be investigated for their developmental delay/intellectual disability or other features.

Missense variants:
All the 30 subjects described harbored a missense variant in CACNA1E which in all cases where parental studies were possible (29/30) occurred as a de novo event. There were 4 recurrent variants, explaining the phenotype in 20 patients in total while the rest of the individuals had private mutations. Functional studies were performed and suggested a gain-of-function effect for these variants (increased calcium inward currents).

Loss-of-function (LoF) variants:
Apart from the main cohort of patients, the authors note the presence of 3 individuals with such variants incl.:
- one individual with a nonsense variant present in the mosaic state (6/22 reads) in peripheral blood.
- one individual with a frameshift variant inherited from his unaffected parent.
- one individual with a nonsense variant for whom parental studies were not possible.

The authors comment that these indivdiduals presented with milder phenotype compared to those with missense variants. More information on these subjects is provided in the supplement as the article focuses on missense SNVs.

As the authors also note, several LoF variants exist in gnomAD, although the gene appears to be LoF intolerant (pLI=1).

Penetrance:
Seems to be complete for missense SNVs and possibly incomplete for LoF ones.

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A previous study by Heyne et al. (PMID: 29942082) implicated de novo variants (DNVs) in CACNA1E with neurodevelopmental disorders for the first time. This study however does not provide clinical details on the phenotype of the affected individuals, while it seems to present overlap as to the individuals reported (eg. includes subjects from the DDD study and others).

---

Details as to a few - possibly further - de novo coding variants reported to date can be found at the denovo-db:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=CACNA1E

---

As a result this gene can be considered for inclusion in this panel as green.
Sources: Expert Review, Literature
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Classified gene: ADAT3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Added comment: Comment on list classification: Based one only two variants one of which is a founder
Early onset or syndromic epilepsy v0.507 ADAT3 Sarah Leigh Gene: adat3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.510 DLG4 Konstantinos Varvagiannis reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29460436, 27479843, 28135719, 23020937; Phenotypes: Intellectual disability, Marfanoid habitus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 PCGF2 Konstantinos Varvagiannis reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of the cardiovascular system, Abnormality of the cerebrum, Abnormality of the skeletal system; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Townes-Brocks; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Currarino syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz GBBB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pallister-Hall syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple gastro-intestinal atresias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.249 DVL2 Eleanor Williams Marked gene: DVL2 as ready
Limb disorders v0.249 DVL2 Eleanor Williams Gene: dvl2 has been classified as Red List (Low Evidence).
Limb disorders v0.249 DVL2 Eleanor Williams commented on gene: DVL2
Limb disorders v0.249 DLX6 Eleanor Williams commented on gene: DLX6
Limb disorders v0.249 POLL Sarah Leigh Marked gene: POLL as ready
Limb disorders v0.249 POLL Sarah Leigh Gene: poll has been classified as Red List (Low Evidence).
Limb disorders v0.249 PIK3CA Sarah Leigh Tag mosaicism tag was added to gene: PIK3CA.
Tag somatic tag was added to gene: PIK3CA.
Limb disorders v0.249 CKAP2L Eleanor Williams Marked gene: CKAP2L as ready
Limb disorders v0.249 CKAP2L Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence).
Limb disorders v0.249 IFT43 Eleanor Williams Marked gene: IFT43 as ready
Limb disorders v0.249 IFT43 Eleanor Williams Added comment: Comment when marking as ready: After review of literature, only 2 cases to date have been reported.
Limb disorders v0.249 IFT43 Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.249 MIR17HG Sarah Leigh Marked gene: MIR17HG as ready
Limb disorders v0.249 MIR17HG Sarah Leigh Gene: mir17hg has been classified as Amber List (Moderate Evidence).
Limb disorders v0.249 IFT43 Eleanor Williams Classified gene: IFT43 as Amber List (moderate evidence)
Limb disorders v0.249 IFT43 Eleanor Williams Added comment: Comment on list classification: Only 2 cases/families to date
Limb disorders v0.249 IFT43 Eleanor Williams Gene: ift43 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Classified gene: CSTB as Green List (high evidence)
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Added comment: Comment on list classification: Changing rating to green in agreement with reviews
Early onset or syndromic epilepsy v0.506 CSTB Sarah Leigh Gene: cstb has been classified as Green List (High Evidence).
Intellectual disability v2.510 ZNF81 Deleted their review
Intellectual disability v2.510 ZNF81 reviewed gene: ZNF81: Rating: RED; Mode of pathogenicity: None; Publications: 12345; Phenotypes: test phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Short QT syndrome v0.1 SLC4A3 Jules Hancox gene: SLC4A3 was added
gene: SLC4A3 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308
Phenotypes for gene: SLC4A3 were set to short QT; ventricular fibrillation; cardiac arrest
Review for gene: SLC4A3 was set to GREEN
Added comment: The Nature Communications paper reporting this association presents strong evidence for causal link to SQTS. This variant of the SQTS was found from exome sequencing. Mutation leads to altered pHi and decrease in intracellular chloride, which in turn abbreviates repolarization. The final mediator(s) of these actions remain to be elucidated.
Sources: Literature
Limb disorders v0.248 CKAP2L Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Limb disorders v0.248 CKAP2L Eleanor Williams Phenotypes for gene: CKAP2L were changed from Polydactyly to Polydactyly; Filippi syndrome 272440; FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Limb disorders v0.248 CKAP2L Eleanor Williams Publications for gene: CKAP2L were set to
Limb disorders v0.248 CKAP2L Eleanor Williams Mode of inheritance for gene: CKAP2L was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.248 CKAP2L Eleanor Williams Classified gene: CKAP2L as Green List (high evidence)
Limb disorders v0.248 CKAP2L Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants in > 3 families.
Limb disorders v0.248 CKAP2L Eleanor Williams Gene: ckap2l has been classified as Green List (High Evidence).
Limb disorders v0.247 CKAP2L Eleanor Williams commented on gene: CKAP2L
Short QT syndrome v0.1 SLC22A5 Jules Hancox gene: SLC22A5 was added
gene: SLC22A5 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SLC22A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC22A5 were set to PMID: 7254270; 7131143; 26190315; 29198778
Phenotypes for gene: SLC22A5 were set to arrhythmia; short QT; cardiomyopathy; primary carnitine deficiency
Review for gene: SLC22A5 was set to GREEN
Added comment: SLC22A5 loss of function mutations lead to defective OCTN2, which leads to primary carnitine deficiency.

PCD has been recognised for a long time. Autosomal recessive, although some heterozygotes can display symptoms. PCD impairs carnitine uptake into cardiac myocytes, leads to impaired long chain fatty acid uptake into mitochondria. It leads to a cardiomyopathy (dilated) and there is an association with arrhytomogenesis. There is now good evidence that PCD produces a short QT phenoype in humans and in an animal model, though the precise mechanism is unknown. It is important to include SLC22A5 screening on a panel for SQTS, particularly where there is evidence for cardiomyopathy, because when it is identified it can be treated with dietary L-carnitine supplementation.

Additional case report: https://www.hindawi.com/journals/cric/2018/3232105/
Sources: Literature
Limb disorders v0.247 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.246 CD96 Eleanor Williams Classified gene: CD96 as Red List (low evidence)
Limb disorders v0.246 CD96 Eleanor Williams Added comment: Comment on list classification: Leaving rating at red as only 1 reported case of a patient with limb abnormalities and a putative pathogenic variant in CD96
Limb disorders v0.246 CD96 Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence).
Limb disorders v0.246 CD96 Eleanor Williams Phenotypes for gene: CD96 were changed from Polydactyly to Polydactyly; C syndrome 211750
Limb disorders v0.246 CD96 Eleanor Williams Publications for gene: CD96 were set to
Limb disorders v0.245 CD96 Eleanor Williams Marked gene: CD96 as ready
Limb disorders v0.245 CD96 Eleanor Williams Added comment: Comment when marking as ready: Literature has been reviewed.
Limb disorders v0.245 CD96 Eleanor Williams Gene: cd96 has been classified as Red List (Low Evidence).
Short QT syndrome v0.1 SCN10A Jules Hancox gene: SCN10A was added
gene: SCN10A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN10A was set to Unknown
Publications for gene: SCN10A were set to PMID:30177317
Phenotypes for gene: SCN10A were set to sudden death; J wave syndrome; short QT
Review for gene: SCN10A was set to RED
Added comment: This is a very recent report. The evidence that the index patient had short QT is high. Causality is inferred rather than demonstrated functionally through cellular electrophysiology.

There is growing evidence for role of SCN10A in heart

Despite the rating, I would recommend including this on the gene panel as the SQTS is rare and has a low success rate with targeted genotyping. It is possible that the association with SCN10A is stronger and so inclusion would be prudent
Sources: Literature
Short QT syndrome v0.1 SCN5A Jules Hancox gene: SCN5A was added
gene: SCN5A was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: SCN5A was set to Unknown
Publications for gene: SCN5A were set to PMID: 22490985; 29697308
Phenotypes for gene: SCN5A were set to short qt; Brugada; family history of sudden death
Review for gene: SCN5A was set to GREEN
Added comment: Evidence of causality is there, but isolated case. Arguably "amber" evidence.

Loss of function
Sources: Literature
Short QT syndrome v0.1 CACNA2D1 Jules Hancox gene: CACNA2D1 was added
gene: CACNA2D1 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA2D1 were set to PMID: 21383000; 29759541; 29697308
Phenotypes for gene: CACNA2D1 were set to short qt; aborted sudden death; Brugada syndrome
Review for gene: CACNA2D1 was set to GREEN
Added comment: Responsible for SQT6 variant of the SQTS.

Variable expressivity/penetrance

Functional evidence for loss of function
Sources: Literature
Short QT syndrome v0.1 CACNB2 Jules Hancox gene: CACNB2 was added
gene: CACNB2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541
Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome
Review for gene: CACNB2 was set to GREEN
Added comment: Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype.

Loss of function mutations.
Sources: Literature
Short QT syndrome v0.1 CACNA1C Jules Hancox gene: CACNA1C was added
gene: CACNA1C was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308
Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd
Review for gene: CACNA1C was set to GREEN
Added comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype
Sources: Literature
Short QT syndrome v0.1 KCNJ2 Jules Hancox gene: KCNJ2 was added
gene: KCNJ2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to PMID: 15761194; 22155372; 23440193; 24794859; 22311718; 22308236; 19285083; 19710529; 25691870
Phenotypes for gene: KCNJ2 were set to short qt; atrial fibrillation; ventricular tacyarrhythmia
Mode of pathogenicity for gene: KCNJ2 was set to Other
Review for gene: KCNJ2 was set to GREEN
Added comment: KCNJ2 encodes Kir2.1 protein which is a key component of cardiac inward rectifier potassium current.

KCNJ2 was 3rd gene implicated in SQTS, responsible for SQTS variant 3 (SQT3)

mutations are gain of function.
Sources: Literature
Short QT syndrome v0.1 KCNH2 Jules Hancox gene: KCNH2 was added
gene: KCNH2 was added to Short QT syndrome. Sources: Literature
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to PMID:14676148; 15828882; 19340359; 18692916; 21130771; 25974115; 29016797; 29759541; 16011830; 19439805; 22194679; 16039272; 29085299
Phenotypes for gene: KCNH2 were set to short qt; atrial fibrillation; ventricular fibrillation; cardiac arrest; Brugada
Mode of pathogenicity for gene: KCNH2 was set to Other
Review for gene: KCNH2 was set to GREEN
Added comment: Different mutations have different degrees of penetrance: N588K and T618I are 100% penetrant; some others have incomplete penetrance.

The mutations are gain-of-function mutations that increase cardiac I(Kr) and abbreviate cardiac action potential duration leading to shortened QT intervals

KCNH2 aka hERG (human Ether-a-go-go-Related Gene). Gene product: hERG or Kv11.1
Sources: Literature
Short QT syndrome v0.1 KCNQ1 Jules Hancox reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15159330, 16109388, 26168993, 26346102, 25974115, 29697308; Phenotypes: short qt, atrial fibrillation, sinus bradycardia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.245 CCND2 Eleanor Williams Marked gene: CCND2 as ready
Limb disorders v0.245 CCND2 Eleanor Williams Added comment: Comment when marking as ready: Rated green based on sufficient evidence.
Limb disorders v0.245 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Unexplained kidney failure in young people v1.19 Ellen McDonagh List of related panels changed from to Familial IgA nephropathy and IgA vasculitis
Limb disorders v0.245 CD96 Eleanor Williams commented on gene: CD96
Unexplained kidney failure in young people v1.18 COL4A4 Ellen McDonagh Publications for gene: COL4A4 were set to 25381091
Unexplained kidney failure in young people v1.17 COL4A4 Ellen McDonagh Publications for gene: COL4A4 were set to
Unexplained kidney failure in young people v1.16 COL4A3 Ellen McDonagh Publications for gene: COL4A3 were set to
Limb disorders v0.245 CCND2 Eleanor Williams Publications for gene: CCND2 were set to
Limb disorders v0.244 CCND2 Eleanor Williams Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Limb disorders v0.243 CCND2 Eleanor Williams Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.243 CCND2 Eleanor Williams Classified gene: CCND2 as Green List (high evidence)
Limb disorders v0.243 CCND2 Eleanor Williams Added comment: Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene.
Limb disorders v0.243 CCND2 Eleanor Williams Gene: ccnd2 has been classified as Green List (High Evidence).
Limb disorders v0.242 CCND2 Eleanor Williams commented on gene: CCND2
Limb disorders v0.242 BTRC Eleanor Williams Marked gene: BTRC as ready
Limb disorders v0.242 BTRC Eleanor Williams Added comment: Comment when marking as ready: Review of literature in October 2018 - no new publications. So keeping rating as Amber.
Limb disorders v0.242 BTRC Eleanor Williams Gene: btrc has been classified as Amber List (Moderate Evidence).
Limb disorders v0.242 BMP4 Eleanor Williams Marked gene: BMP4 as ready
Limb disorders v0.242 BMP4 Eleanor Williams Added comment: Comment when marking as ready: rated green as 3 cases reported
Limb disorders v0.242 BMP4 Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence).
Limb disorders v0.242 BMP4 Eleanor Williams Phenotypes for gene: BMP4 were changed from Polydactyly to Polydactyly; Microphthalmia, syndromic 6 607932
Limb disorders v0.242 BMP4 Eleanor Williams Publications for gene: BMP4 were set to
Limb disorders v0.242 BMP4 Eleanor Williams Mode of inheritance for gene: BMP4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.242 BMP4 Eleanor Williams Classified gene: BMP4 as Green List (high evidence)
Limb disorders v0.242 BMP4 Eleanor Williams Added comment: Comment on list classification: 3 cases with plausible disease causing variants in the gene have been reported.
Limb disorders v0.242 BMP4 Eleanor Williams Gene: bmp4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 TRIM8 Konstantinos Varvagiannis reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 TRIM8 Konstantinos Varvagiannis gene: TRIM8 was added
gene: TRIM8 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111
Phenotypes for gene: TRIM8 were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: TRIM8 were set to Complete
Review for gene: TRIM8 was set to GREEN
Added comment: PMID: 30244534 is a collaborative study reporting on the phenotype of TRIM8-related epileptic encephalopathy and summarizing the findings in previously published patients. Developmental delay, intellectual disability, seizures are common findings in the 6 unrelated individuals reported. Proteinuria was observed in 3 subjects.

Seizures were universal feature with highly variable age of onset (2 months to 3 years and 5 months).

Several individuals were investigated for developmental delay prior to seizure onset (eg. pat.1 had an MRI at 10 months, sat at 16 months, walked at 22 months and developed seizures at 2 years, pat.3 sat at 12 months, walked at 22 and developed seizures at 3 years and 5 months, pat. 4 and 5 had significant/severe delay prior to the age of 21 months when they started having seizures).

All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.

A previously reported patient (from PMID: 27346735) as well as an individual reported by the Epi4K consortium (PMID: 23934111 - among the co-authors of the present study) are included in the table of this article.

As a result this gene can be considered for inclusion in the intellectual disability and epilepsy panels as green.
Sources: Expert Review, Literature
Limb disorders v0.241 BMP4 Eleanor Williams commented on gene: BMP4
Early onset or syndromic epilepsy v0.505 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 VARS Konstantinos Varvagiannis gene: VARS was added
gene: VARS was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS were set to 26539891; 29691655; 30275004
Phenotypes for gene: VARS were set to # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA
Penetrance for gene: VARS were set to Complete
Review for gene: VARS was set to GREEN
gene: VARS was marked as current diagnostic
Added comment: PMID: 26539891 is the first report on individuals with biallelic pathogenic variants in VARS. 3 individuals from 2 consanguineous families are briefly reported. The phenotype was similar in all 3, consisting of severe developmental delay, microcephaly, seizures and cortical atrophy. Subjects from the first family were homozygous for a missense variant in the tRNA synthetase catalytic domain [p.(L885F)]. The patient from the second family was homozygous for a missense SNV affecting the anticodon-binding domain [p.(R1058Q)].

PMID: 29691655 reports on a further patient born to non-consanguineous parents, with 2 in-trans pathogenic variants in VARS. The phenotype consisted of progressive microcephaly (OFC at birth -2SD, at the age of 2 months -4SD), global developmental delay, seizures and progressive cerebral and cerebellar atrophy. An affected brother presented with more severe phenotype (OFC -6SD at birth and -8SD at 2 months of age), seizures, hearing loss but was deceased and unavailable for genetic testing. cDNA studies demonstrated absence of the reference allele for the missense mutation downstream the splice variant (in line with a reduced or absent mRNA allele harboring the splice variant). Similarly, mRNA expression studies demonstrated 50-60% reduction in the transcripts (due to NMD of the allele with the splice SNV). Western blot showed severe reduction in protein levels (more pronounced compared to what would be expected by mRNA expression) presumably secondary to decreased protein stability due to the missense variant. Severe defects in aminoacylation were further confirmatory of a pathogenic role of these variants. The missense variant was affecting the anticodon-binding domain, important for aminoacylation.

PMID: 30275004 reports on 2 siblings with developmental delay, intellectual disability, severe speech impairment and microcephaly, similar to what has been described for the disorder. Clinical findings were somewhat different from previous studies in that microcephaly was acquired, while seizures and cortical atrophy were not part of the phenotype. Both sibs were compound heterozygous for 2 missense variants, though only one of these mutations affected the anticodon binding domain and the other was in the N-terminal region of the protein. Previous metabolic studies and extensive genetic testing (karyotype, CMA, MECP2, FMR1) was normal.

Epilepsy was a feature in 4 of the 6 individuals for whom genetic testing was possible (or 5/7 in total).

VARS belongs to the family of amino acyl-tRNA synthetases (ARSs). Mutations in several cytoplasmic ARSs are associated with severe neurological manifestations including seizures, intellectual disability associated with microcephaly.

VARS is included in gene panels for intellectual disability (but not for epilepsy) offered by different diagnostic labs.

As a result this gene can be considered for inclusion in the ID and epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Eleanor Williams commented on gene: MYCN: Checking with Genomics England Clinical team as to whether the anorectal phenotype observed associated with this gene is frequent enough to include this gene in this panel, and whether other types of atresia should be considered for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance:
Early onset or syndromic epilepsy v0.505 KARS Konstantinos Varvagiannis gene: KARS was added
gene: KARS was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 29615062; 30252186; 28496994
Phenotypes for gene: KARS were set to Global developmental delay; Intellectual disability; Seizures; Charcot-Marie-Tooth disease, recessive intermediate, B - 613641; Deafness, autosomal recessive 89 - 613916
Penetrance for gene: KARS were set to Complete
Review for gene: KARS was set to GREEN
Added comment: Several individuals with biallelic pathogenic variants in KARS have been reported (summarized in PMIDs : 29615062, 30252186, 28496994).

Developmental delay and/or intellectual disability are among the (most) frequent features, although not universal.

Seizures are part of the phenotype (15-30% of the individuals) according to the tables provided in these 3 publications.

As a result it can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 KARS Konstantinos Varvagiannis reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29615062, 30252186, 28496994; Phenotypes: Global developmental delay, Intellectual disability, Seizures, Charcot-Marie-Tooth disease, recessive intermediate, B - 613641, Deafness, autosomal recessive 89 - 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674751, 25138100, 29255182, 16541367; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 ARL13B Konstantinos Varvagiannis reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.510 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v0.505 PIGW Konstantinos Varvagiannis reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 30078644; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger commented on gene: SUFU: Added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger Tag watchlist tag was added to gene: SUFU.
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger commented on gene: SUFU
Holoprosencephaly - NOT chromosomal v1.4 Ellen McDonagh List of related panels changed from Rhombencephalosynapsis;Holoprosencephaly - NOT chromosomal to Rhombencephalosynapsis
Rare multisystem ciliopathy disorders v1.67 SUFU Rebecca Foulger Phenotypes for gene: SUFU were changed from Joubert Syndrome 32, MIM#617757 to Joubert syndrome 32, 617757
Rare multisystem ciliopathy disorders v1.66 TXNDC15 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:27894351.
Rare multisystem ciliopathy disorders v1.66 TXNDC15 Rebecca Foulger Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Marked gene: GATAD2B as ready
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Added comment: Comment when marking as ready: Seizures do not appear to be a feature associated with variants in this gene.
Early onset or syndromic epilepsy v0.505 GATAD2B Sarah Leigh Gene: gatad2b has been classified as Red List (Low Evidence).
Rare multisystem ciliopathy disorders v1.65 TXNDC15 Rebecca Foulger commented on gene: TXNDC15
Early onset or syndromic epilepsy v0.505 CBL Sarah Leigh commented on gene: CBL
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Marked gene: ST3GAL5 as ready
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases.
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Marked gene: PRICKLE1 as ready
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 PRICKLE1 Sarah Leigh Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.65 TXNDC15 Rebecca Foulger Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber to Meckel-Gruber syndrome; MGS
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Marked gene: NHLRC1 as ready
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in unrelated cases.
Early onset or syndromic epilepsy v0.505 NHLRC1 Sarah Leigh Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.241 BBS1 Eleanor Williams Marked gene: BBS1 as ready
Limb disorders v0.241 BBS1 Eleanor Williams Added comment: Comment when marking as ready: Marked as read after reviewing available evidence
Limb disorders v0.241 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Limb disorders v0.241 BBS1 Eleanor Williams commented on gene: BBS1: Note: is green on the Rare multisystem ciliopathy disorders panel.
Limb disorders v0.241 B9D2 Eleanor Williams Marked gene: B9D2 as ready
Limb disorders v0.241 B9D2 Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing the available evidence
Limb disorders v0.241 B9D2 Eleanor Williams Gene: b9d2 has been classified as Red List (Low Evidence).
Limb disorders v0.241 B9D1 Eleanor Williams Marked gene: B9D1 as ready
Limb disorders v0.241 B9D1 Eleanor Williams Added comment: Comment when marking as ready: Marked as ready after reviewing evidence
Limb disorders v0.241 B9D1 Eleanor Williams Gene: b9d1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Marked gene: MOCS2 as ready
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Early onset or syndromic epilepsy v0.505 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Classified gene: TCTEX1D2 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. 2 Green reviews plus sufficient unrelated cases of ciliogenesis phenotypes (PMIDs:26044572, 28475963). Role in ciliogenesis supported by functional assays and zebrafish model (PMID:26044572).
Rare multisystem ciliopathy disorders v1.64 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Zebrafish ciliopathy model demonstrated in PMID:26044572 and functional evidence that loss of TCTEX1D2 impairs retrograde intraflagellar transport in humans.
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: PMID:26044572 (Schmidts et al 2015) performed whole exome sequencing of 69 individuals from 60 families clinically diagnosed with JATD, and identified a homozygous consensus splice variant (c.113+2C>G) in TCTEX1D2 from a consanguineous Turkish family plus a >10-kb homozygous deletion in two affected siblings (UCL4 II.6 and II.8) from a consanguineous Arabic family that removes exon 1–2 of TCTEX1D2. Additional analysis of further JATD/SRPS cases found a compound heterozygous TCTEX1D2 variant in a non-consanguineous French family comprisimng a nonsense (c.262C>T; p.Arg88*) and a deletion-insertion frameshift (c.100delinsCT; p.Val34Leufs*12).
Limb disorders v0.241 ARMC8 Eleanor Williams Marked gene: ARMC8 as ready
Limb disorders v0.241 ARMC8 Eleanor Williams Added comment: Comment when marking as ready: Rated based on search of literature and OMIM
Limb disorders v0.241 ARMC8 Eleanor Williams Gene: armc8 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ARL6 Eleanor Williams Marked gene: ARL6 as ready
Limb disorders v0.241 ARL6 Eleanor Williams Added comment: Comment when marking as ready: Sufficient evidence to rate green.
Limb disorders v0.241 ARL6 Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Marked gene: MOCS1 as ready
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.
Early onset or syndromic epilepsy v0.505 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.241 ARL6 Eleanor Williams commented on gene: ARL6: Note: also green on Rare multisystem ciliopathy disorders panel
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Zschocke et al 2017 (PMID:28475963) identified two siblings from a consanguineous Turkish family with defects suggestive of ciliary dysfunction (the girl who died in utero likely had Jeune syndrome). Exome sequencing identified a homozygous intragenic deletion in TCTEX1D2. Ciliary function tests showed mild irregulatories of motile cilia.
Limb disorders v0.241 ALX3 Eleanor Williams Marked gene: ALX3 as ready
Limb disorders v0.241 ALX3 Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature.
Limb disorders v0.241 ALX3 Eleanor Williams Gene: alx3 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ALMS1 Eleanor Williams Marked gene: ALMS1 as ready
Limb disorders v0.241 ALMS1 Eleanor Williams Added comment: Comment when marking as ready: Rated red after review of literature
Limb disorders v0.241 ALMS1 Eleanor Williams Gene: alms1 has been classified as Red List (Low Evidence).
Limb disorders v0.241 ALMS1 Eleanor Williams Publications for gene: ALMS1 were set to
Limb disorders v0.240 AKT3 Eleanor Williams Marked gene: AKT3 as ready
Limb disorders v0.240 AKT3 Eleanor Williams Added comment: Comment when marking as ready: Rated red based on feedback from Genomics England Clinical Team
Limb disorders v0.240 AKT3 Eleanor Williams Gene: akt3 has been classified as Red List (Low Evidence).
Limb disorders v0.240 AKT3 Eleanor Williams Phenotypes for gene: AKT3 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Limb disorders v0.239 AKT3 Eleanor Williams Publications for gene: AKT3 were set to
Rare multisystem ciliopathy disorders v1.63 TCTEX1D2 Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Jeune ATD to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Jeune asphyxiating thoracic dystrophy; JATD
Limb disorders v0.238 AHI1 Eleanor Williams Marked gene: AHI1 as ready
Limb disorders v0.238 AHI1 Eleanor Williams Added comment: Comment when marking as ready: Rated as red based on feedback from Genomics England Clinical team
Limb disorders v0.238 AHI1 Eleanor Williams Gene: ahi1 has been classified as Red List (Low Evidence).
Rare multisystem ciliopathy disorders v1.62 TCTEX1D2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Rare multisystem ciliopathy disorders v1.62 TCTEX1D2 Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.238 AHI1 Eleanor Williams Phenotypes for gene: AHI1 were changed from Polydactyly to Polydactyly; Joubert syndrome 3 608629
Limb disorders v0.237 AHI1 Eleanor Williams Publications for gene: AHI1 were set to
Rare multisystem ciliopathy disorders v1.61 TCTEX1D2 Rebecca Foulger Publications for gene: TCTEX1D2 were set to 26044572
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger commented on gene: EXOC3L2: Added 'watchlist' tag.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Tag watchlist tag was added to gene: EXOC3L2.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Classified gene: EXOC3L2 as Red List (low evidence)
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red: Currently only a candidate ciliopathy gene (PMID:27894351). Further cases and functional evidence required for inclusion on panel.
Rare multisystem ciliopathy disorders v1.60 EXOC3L2 Rebecca Foulger Gene: exoc3l2 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Marked gene: DCX as ready
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.
Early onset or syndromic epilepsy v0.505 DCX Sarah Leigh Gene: dcx has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy disorders v1.59 EXOC3L2 Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from to anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Added comment: Comment on publications: Note that the Reviewer's 7894351 publication suggestion is a typo and should be 27894351.
Rare multisystem ciliopathy disorders v1.58 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478; 27894351
Rare multisystem ciliopathy disorders v1.57 EXOC3L2 Rebecca Foulger Publications for gene: EXOC3L2 were set to 28749478, 27894351
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Classified gene: C21orf2 as Green List (high evidence)
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Two Green expert reviews, plus recent literature evidence for biallelic C21orf2 variants involved in Jeune syndrome (PMID:26167768).
Rare multisystem ciliopathy disorders v1.56 C21orf2 Rebecca Foulger Gene: c21orf2 has been classified as Green List (High Evidence).
Rare multisystem ciliopathy disorders v1.55 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome to Jeune asphyxiating thoracic dystrophy (JATD); Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.54 C21orf2 Rebecca Foulger Phenotypes for gene: C21orf2 were changed from Spondylometaphyseal dysplasia, axial, MIM#602271 to Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271; Jeune Syndrome
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and DD-G2P.
Rare multisystem ciliopathy disorders v1.53 C21orf2 Rebecca Foulger Mode of inheritance for gene: C21orf2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768; 23105016
Rare multisystem ciliopathy disorders v1.52 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899; 26974433; 26167768
Rare multisystem ciliopathy disorders v1.51 C21orf2 Rebecca Foulger Publications for gene: C21orf2 were set to 27548899, 26974433, 26167768
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger commented on gene: C21orf2
Rare multisystem ciliopathy disorders v1.50 C21orf2 Rebecca Foulger Tag new-gene-name tag was added to gene: C21orf2.
Limb disorders v0.236 SMO Rebecca Foulger Classified gene: SMO as Green List (high evidence)
Limb disorders v0.236 SMO Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: sufficient unrelated cases of syndactyly and/or preaxial polydactyly in Curry-Jones patients for inclusion on panel.
Limb disorders v0.236 SMO Rebecca Foulger Gene: smo has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 CSTB Sarah Leigh Mode of inheritance for gene: CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.235 SMO Rebecca Foulger Added comment: Comment on mode of inheritance: Somatic mosaic.
Limb disorders v0.235 SMO Rebecca Foulger Mode of inheritance for gene: SMO was changed from to Other
Limb disorders v0.234 SMO Rebecca Foulger commented on gene: SMO: Added 'somatic' tag.
Limb disorders v0.234 SMO Rebecca Foulger Tag somatic tag was added to gene: SMO.
Limb disorders v0.234 TFAP2B Rebecca Foulger Marked gene: TFAP2B as ready
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Limb disorders v0.234 TFAP2B Rebecca Foulger Classified gene: TFAP2B as Green List (high evidence)
Limb disorders v0.234 TFAP2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Char syndrome, which includes hand anomalies. Although not all patients display a hand phenotype, there's sufficient cases for inclusion on the limb panel.
Limb disorders v0.234 TFAP2B Rebecca Foulger Gene: tfap2b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.504 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the epilepsy panel as green (or amber).
Sources: Expert Review, Literature
Intellectual disability v2.510 ADAT3 Konstantinos Varvagiannis gene: ADAT3 was added
gene: ADAT3 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAT3 were set to 23620220; 26842963; 30296593; 29796286
Phenotypes for gene: ADAT3 were set to # 615286. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
Penetrance for gene: ADAT3 were set to Complete
Review for gene: ADAT3 was set to GREEN
gene: ADAT3 was marked as current diagnostic
Added comment: Initially reported in PMID 23620220, the findings in several individuals with biallelic ADAT3 pathogenic variants (including also those from the first report) are summarized in PMID 26842963.

A total of 39 individuals from 19 consanguineous families are described in the two studies. These individuals were homozygous for a specific missense variant (probably a Saudi Arabian founder mutation).

The common phenotype consists of intellectual disability (39/39 patients) and strabismus (32/39). Additional features included failure to thrive (33/39), microcephaly (22/39), short stature (11 of 15 individuals for whom this was information was available).

Epilepsy was observed in some of these individuals (6/39).

A few facial features were more common, although there was no distinct facial gestalt. //

PMID 30296593 reports on 2 additional subjects born to consanguineous parents and found to be homozygous for the same missense variant. These individuals presented with features similar to the previous reports (although none of them was reported to have seizures). //

Of note, the variant is either referred to as V144M (using NM_138422.2 or NM_138422.3) or as V128M (using NM_138422.1 as a reference / c.382G>A) as in the initial report. [ClinVar : https://www.ncbi.nlm.nih.gov/clinvar/variation/183301/#summary-evidence]

PMID 29796286 describes a 6-year-old female, born to consanguineous Iranian parents, investigated for developmental delay,intellectual disability, behavioral difficulties as well as microcephaly. A homozygous 8-basepair duplication in ADAT3 was identified by exome and was further confirmed by Sanger sequencing. This individual did not have seizures. //

This gene is included in DD/ID (but not epilepsy) panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in the intellectual disability panel as green.
Sources: Expert Review, Literature
Limb disorders v0.233 TFAP2B Rebecca Foulger commented on gene: TFAP2B: Confirmed DD-G2P gene for Char syndrome (MIM:169100). Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies including aplasia or hypoplasia of the middle phalanges of the fifth fingers or fifth finger clinodactyly. However, hand anomalies are not reported in all patients. Variants in TFAP2B can also cause PDA without facial dysmorphism or hand anomalies (MIM:617035).
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Classified gene: CDX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases reported of CDX1 variants in patients with anorectal malformations. Also supporting functional studies.
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Limb disorders v0.233 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to 15684060; 11505339
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B: In a large 3-generation family segregating autosomal dominant Char syndrome (CHAR; 169100), Mani et al. (2005, 15684060) identified heterozygosity for a G-to-A transition at position +5 of the splice donor site of intron 3, a highly conserved nucleotide in the TFAP2B gene. Of the 22 affected members, all had clinodactyly. Chen et al (PMID:21643846) report the same variant in a Chinese family, but none of the affected individuals in the Chinese family exhibited the craniofacial or fifth-finger anomalies of Char syndrome.
Limb disorders v0.232 TFAP2B Rebecca Foulger commented on gene: TFAP2B
Limb disorders v0.232 TFAP2B Rebecca Foulger Phenotypes for gene: TFAP2B were changed from Polydactyly to Polydactyly; Clinodactyly; Char syndrome, 169100
Limb disorders v0.231 TFAP2B Rebecca Foulger Mode of inheritance for gene: TFAP2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v0.230 TFAP2B Rebecca Foulger Publications for gene: TFAP2B were set to
Cerebellar hypoplasia v1.21 Ellen McDonagh List of related panels changed from Cerebellar Hypoplasia to Cerebellar Hypoplasia; Pontine tegmental cap dysplasia
Limb disorders v0.229 ZIC3 Sarah Leigh gene: ZIC3 was added
gene: ZIC3 was added to Limb disorders. Sources: Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZIC3 were set to 21465648; 20452998
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390
Limb disorders v0.229 WNT7A Sarah Leigh Added phenotypes absence of a radius; Fuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii for gene: WNT7A
Limb disorders v0.229 UBE2T Sarah Leigh Source Expert Review Green was added to UBE2T.
Added phenotypes Fanconi Anemia, Complementation Group T, 616435 for gene: UBE2T
Limb disorders v0.229 TBX5 Sarah Leigh Mode of inheritance for gene TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Holt-Oram syndrome,142900 for gene: TBX5
Publications for gene TBX5 were changed from to 8730285
Limb disorders v0.229 TBX3 Sarah Leigh Mode of inheritance for gene TBX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Ulnar-mammary syndrome, 181450; Hypoplastic/absent/deformed radius for gene: TBX3
Limb disorders v0.229 SMC3 Sarah Leigh Mode of inheritance for gene SMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3
Publications for gene SMC3 were changed from to 25125236
Limb disorders v0.229 SMC1A Sarah Leigh Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
Publications for gene SMC1A were changed from to 20358602
Limb disorders v0.229 SLX4 Sarah Leigh Source Expert Review Green was added to SLX4.
Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4
Publications for gene SLX4 were changed from to 21240277; 21240275
Limb disorders v0.229 SHOX Sarah Leigh Source Expert Review Green was added to SHOX.
Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX
Limb disorders v0.229 SF3B4 Sarah Leigh Mode of inheritance for gene SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
Limb disorders v0.229 SALL4 Sarah Leigh Added phenotypes Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 for gene: SALL4
Limb disorders v0.229 SALL1 Sarah Leigh Mode of inheritance for gene SALL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480 for gene: SALL1
Limb disorders v0.229 RPS7 Sarah Leigh Source Expert Review Green was added to RPS7.
Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 8, 612563; upper limb malformation for gene: RPS7
Publications for gene RPS7 were changed from to 19061985
Limb disorders v0.229 RPS26 Sarah Leigh Source Expert Review Green was added to RPS26.
Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 10, 613309; upper limb malformation for gene: RPS26
Publications for gene RPS26 were changed from to 20116044
Limb disorders v0.229 RPS24 Sarah Leigh Source Expert Review Green was added to RPS24.
Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 3, 610629; upper limb malformation for gene: RPS24
Publications for gene RPS24 were changed from to 17186470; 2210388; 8647458; 19689926; 19773262
Limb disorders v0.229 RPS19 Sarah Leigh Source Expert Review Green was added to RPS19.
Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 1, 105650; Triphalangeal thumbs; Hypoplastic thumbs; Mild radial hypoplasia; Absent thumbs for gene: RPS19
Publications for gene RPS19 were changed from to 15384984; 9988267; 1746615
Limb disorders v0.229 RPS17 Sarah Leigh Source Expert Review Green was added to RPS17.
Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
Publications for gene RPS17 were changed from to 17647292; 19953637; 22045982; 19061985
Limb disorders v0.229 RPS10 Sarah Leigh Source Expert Review Green was added to RPS10.
Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 9, 613308; upper limb malformation for gene: RPS10
Publications for gene RPS10 were changed from to 20116044
Limb disorders v0.229 RPL5 Sarah Leigh Source Expert Review Green was added to RPL5.
Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 6, 612561; thumb abnormalities for gene: RPL5
Publications for gene RPL5 were changed from to 19191325; 19061985
Limb disorders v0.229 RPL35A Sarah Leigh Source Expert Review Green was added to RPL35A.
Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 5, 612528; upper limb malformation for gene: RPL35A
Publications for gene RPL35A were changed from to 18535205
Limb disorders v0.229 RPL11 Sarah Leigh Source Expert Review Green was added to RPL11.
Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Diamond-Blackfan anemia 7, 612562; hypoplastic thumb; thumb abnormalities for gene: RPL11
Publications for gene RPL11 were changed from to 19191325; 19061985
Limb disorders v0.229 RECQL4 Sarah Leigh Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4
Limb disorders v0.229 RBM8A Sarah Leigh Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
Publications for gene RBM8A were changed from to 22366785
Limb disorders v0.229 PALB2 Sarah Leigh Source Expert Review Green was added to PALB2.
Mode of inheritance for gene PALB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
Publications for gene PALB2 were changed from to 17200671; 17200672
Limb disorders v0.229 NIPBL Sarah Leigh Mode of inheritance for gene NIPBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes CDLS1; Cornelia de Lange syndrome 1, 122470; Dislocation of the radial head; upper limb anomalies for gene: NIPBL
Limb disorders v0.229 LMBR1 Sarah Leigh Mode of inheritance for gene LMBR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Triphalangeal Thumb-Polysyndactyly Syndrome; Laurin-Sandrow syndrome,135750; Triphalangeal thumb type I,174500 for gene: LMBR1
Limb disorders v0.229 KCNH1 Sarah Leigh Source Expert Review Green was added to KCNH1.
Added phenotypes Hypoplasia of terminal phalanges; Temple-Baraitser syndrome, 611816 for gene: KCNH1
Limb disorders v0.229 HOXA13 Sarah Leigh Added phenotypes Hand-foot-uterus syndrome, 140000 for gene: HOXA13
Publications for gene HOXA13 were changed from to 10839976; 9020844
Limb disorders v0.229 HDAC8 Sarah Leigh Source Expert Review Green was added to HDAC8.
Added phenotypes Cornelia de Lange syndrome 5, 300882 for gene: HDAC8
Limb disorders v0.229 FLNA Sarah Leigh Added phenotypes Melnick-Needles syndrome, 309350 for gene: FLNA
Publications for gene FLNA were changed from to 12612583
Limb disorders v0.229 FIG4 Sarah Leigh Source Expert Review Green was added to FIG4.
Added phenotypes Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs for gene: FIG4
Publications for gene FIG4 were changed from to 23623387
Limb disorders v0.229 FGFR3 Sarah Leigh Mode of inheritance for gene FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR3
Limb disorders v0.229 FGFR2 Sarah Leigh Mode of inheritance for gene FGFR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGFR2
Limb disorders v0.229 FGF10 Sarah Leigh Mode of inheritance for gene FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes short radius; LADD syndrome, 149730; Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs for gene: FGF10
Limb disorders v0.229 FANCL Sarah Leigh Source Expert Review Green was added to FANCL.
Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group L, 614083 for gene: FANCL
Publications for gene FANCL were changed from to 25754594; 12973351; 19405097; 12724401
Limb disorders v0.229 FANCI Sarah Leigh Source Expert Review Green was added to FANCI.
Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group I, 609053 for gene: FANCI
Publications for gene FANCI were changed from to 11239453; 17452773
Limb disorders v0.229 FANCG Sarah Leigh Source Expert Review Green was added to FANCG.
Mode of inheritance for gene FANCG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group G, 614082 for gene: FANCG
Publications for gene FANCG were changed from to 9806548
Limb disorders v0.229 FANCF Sarah Leigh Source Expert Review Green was added to FANCF.
Mode of inheritance for gene FANCF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group F, 603467 for gene: FANCF
Publications for gene FANCF were changed from to 10615118
Limb disorders v0.229 FANCE Sarah Leigh Source Expert Review Green was added to FANCE.
Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE
Publications for gene FANCE were changed from to 9147877; 10205272; 7662964; 9382107
Limb disorders v0.229 FANCD2 Sarah Leigh Source Expert Review Green was added to FANCD2.
Mode of inheritance for gene FANCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
Publications for gene FANCD2 were changed from to 11239454
Limb disorders v0.229 FANCC Sarah Leigh Source Expert Review Green was added to FANCC.
Mode of inheritance for gene FANCC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group C, 227645 for gene: FANCC
Publications for gene FANCC were changed from to 1574115
Limb disorders v0.229 FANCB Sarah Leigh Source Expert Review Green was added to FANCB.
Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
Publications for gene FANCB were changed from to 15502827
Limb disorders v0.229 FANCA Sarah Leigh Source Expert Review Green was added to FANCA.
Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group A, 227650 for gene: FANCA
Publications for gene FANCA were changed from to 8896563
Limb disorders v0.229 ESCO2 Sarah Leigh Source Expert Review Green was added to ESCO2.
Added phenotypes absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia for gene: ESCO2
Limb disorders v0.229 ERCC4 Sarah Leigh Source Expert Review Green was added to ERCC4.
Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
Publications for gene ERCC4 were changed from to 23623389; 23623386; 24027083
Limb disorders v0.229 BRIP1 Sarah Leigh Source Expert Review Green was added to BRIP1.
Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Publications for gene BRIP1 were changed from to 16153896; 16116424; 14630800; 16116423
Limb disorders v0.229 BRCA2 Sarah Leigh Source Expert Review Green was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
Publications for gene BRCA2 were changed from to 11239453; 12065746; 14670928; 28185119
Limb disorders v0.228 UBE2T Sarah Leigh gene: UBE2T was added
gene: UBE2T was added to Limb disorders. Sources: Other
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368; 26119737; 26085575
Phenotypes for gene: UBE2T were set to Fanconi Anemia, Complementation Group T, 616435
Limb disorders v0.228 SHOX Sarah Leigh gene: SHOX was added
gene: SHOX was added to Limb disorders. Sources: Other
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, 249700; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300
Limb disorders v0.228 KCNH1 Sarah Leigh gene: KCNH1 was added
gene: KCNH1 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH1 were set to 25420144
Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, 611816
Limb disorders v0.228 HDAC8 Sarah Leigh gene: HDAC8 was added
gene: HDAC8 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: HDAC8 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: HDAC8 were set to Cornelia de Lange syndrome 5, 300882
Limb disorders v0.228 FIG4 Sarah Leigh gene: FIG4 was added
gene: FIG4 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340
Limb disorders v0.228 ESCO2 Sarah Leigh gene: ESCO2 was added
gene: ESCO2 was added to Limb disorders. Sources: Other
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to absence of radii, SC phocomelia syndrome, 269000; Roberts syndrome, 268300; radial aplasia
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Classified gene: KCNK4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.504 KCNK4 Sarah Leigh Gene: kcnk4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.101 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome 218600
Non-syndromic familial congenital anorectal malformations v0.100 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Classified gene: RECQL4 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as only 2 reported cases of variants in RECQL4 in patients with Baller-Gerold syndrome showing anorectal malformation phenotypes.
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Gene: recql4 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams commented on gene: RECQL4: RECQL4 is associated with Baller-Gerold syndrome in OMIM and Gene2Phenotype (confirmed). It is also associated with RAPADILINO syndrome and Rothmund-Thomson syndrome. Imperforate anus/Anteriorly placed anus are a feature of Baller-Gerold syndrome.

Van Maldergem et al. (2006)(PMID: 15964893) report the analysis of 2 unrelated cases of Baller-Gerold syndrome. Patient 1 in family 1 was compound heterozygous for variants in this gene. In family 2 the patient was homozygous for a splice site mutation. 3 offspring from family 1 showed anus anteposition. No anorectal abnormalities are reported for the child in family 2.

Debeljak et al (2009)(PMID: 19291770) report a case of a child with Baller-Gerold syndrome with features including imperforate anus. The patient had two different truncating mutations in exon 15 of RECQL4.

Kaneko et al (2017)(PMID: 28358413) report a family with 2 brothers with Baller-Gerold syndrome, one with imperforate anus, however the RECQL4 gene was not sequenced.
Limb disorders v0.227 TFAP2A Rebecca Foulger Marked gene: TFAP2A as ready
Limb disorders v0.227 TFAP2A Rebecca Foulger Added comment: Comment when marking as ready: Amber rating while awaiting further dactyly cases.
Limb disorders v0.227 TFAP2A Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence).
Limb disorders v0.227 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Added 'watchlist' tag while awaiting further cases.
Limb disorders v0.227 TFAP2A Rebecca Foulger Tag watchlist tag was added to gene: TFAP2A.
Limb disorders v0.227 TFAP2A Rebecca Foulger Classified gene: TFAP2A as Amber List (moderate evidence)
Limb disorders v0.227 TFAP2A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Confirmed DD-G2P gene for Branchiooculofacial syndrome (MIM:113620) which can present with Polydactyly and Clinodactyly. Currently insufficient cases of dactyly phenotypes for diagnostic rating (PMIDs:20358615, 19685247).
Limb disorders v0.227 TFAP2A Rebecca Foulger Gene: tfap2a has been classified as Amber List (Moderate Evidence).
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Added 'deletions' tag based on Syndactyly patients in PMID:19685247 with whole gene deletions.
Limb disorders v0.226 TFAP2A Rebecca Foulger Tag deletions tag was added to gene: TFAP2A.
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: Gestri et al 2009 (PMID:19685247) analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS. A 5 year old boy with 5th finger clinodactyly (amongst other phenotypes) had a 12bp deletion resulting in the deletion of 4 amino acids (Glu233 to Arg236) in TFAP2A. Whole gene deletion was seen in a further 3 patients which all presented with Syndactyly.
Early onset or syndromic epilepsy v0.504 HLCS Sarah Leigh Mode of inheritance for gene: HLCS was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.226 TFAP2A Rebecca Foulger commented on gene: TFAP2A: 1 BOFS patient was reported in Reiber et al 2010 (PMID:20358615) with severe Syndactyly and a c.806T>C (p.Leu269Pro) de novo missense variant in TFAP2A.
Limb disorders v0.226 TFAP2A Rebecca Foulger Publications for gene: TFAP2A were set to
Limb disorders v0.225 TFAP2A Rebecca Foulger Phenotypes for gene: TFAP2A were changed from Polydactyly to Polydactyly; Branchiooculofacial syndrome, 113620; Clinodactyly; Syndactyly
Limb disorders v0.224 TFAP2A Rebecca Foulger Added comment: Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.
Limb disorders v0.224 TFAP2A Rebecca Foulger Mode of inheritance for gene: TFAP2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.503 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351; 28554332; 12746398; 12826745; 11450821; 3377648; 23277425; 22109531; 23153818
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
Added comment: PMID: 30269351 is a collaborative study reporting on 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Expert Review, Literature
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30269351, 28554332, 12746398, 12826745, 11450821, 3377648, 23277425, 22109531, 23153818; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 NBEA Konstantinos Varvagiannis gene: NBEA was added
gene: NBEA was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NBEA were set to Global developmental delay; Intellectual disability; Seizures
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to GREEN
gene: NBEA was marked as current diagnostic
Added comment: PMID: 30269351 is a collaborative study reporting in 24 individuals with pathogenic de novo variants affecting NBEA.

All subjects presented with neurodevelopmental disorder including developmental delay or intellectual disability. Half of the patients (12/24) had autistic features or autism.

Epilepsy was a feature in 15/24 (62.5%) of patients with onset before the age of 4 years in the majority (approx. 85%). Of the 15 patients with seizures, 80% presented with generalized seizures of variable type (myoclonic, atonic and/or myoclonic-atonic, absence, tonic, clonic or tonic-clonic), 6.67% with focal seizures only and 13.33% with unclassified seizure type.

Other features included developmental microcephaly (or borderilne microcephaly) in 3/24 individuals or developmental regression in 2/24.

Among the variants identified:
8/24 were stopgain SNVs
5/24 were frameshift
4/24 were missense SNVs
1/24 was a splice site SNV
5/24 concerned an intragenic NBEA deletion
1/24 concerned a 2.87 Mb deletion spanning NBEA as well as additional genes (none of latter associated with disease in OMIM).

Two of these individuals were reported in a previously published study of children with DD/ID (PMID: 28554332).

Individuals with developmental disorders and de novo coding mutations in NBEA have been reported in further publications including the DDD study (PMID: 28135719 - subject DDD4K.01714), most summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NBEA).

As also commented in the article, a patient with autism and a de novo balanced translocation disrupting NBEA has been reported (PMID: 12746398) as has also been the case with other deletions spanning NBEA (PMIDs: 12826745, 11450821, 3377648).

Previous studies have suggested a role for NBEA in regulation of synaptic structure and function (PMID: 23277425,22109531) as well as a role of neurobeachin in autism-like behaviors in mice (PMID: 23153818).

NBEA is intolerant to loss-of-function mutations (pLI=1 in ExAC). Most variants in the study predict loss-of-function. As a result happloinsufficiency seems to be the underlying mechanism.

As the authors propose, loss-of-function variants might be associated with more specific (eg. microcephaly or myoclonic-atonic seizures) or severe phenotypic presentations, although the size of the cohort did not not allow safe conclusions. //

NBEA is included in DD/ID (but not epilepsy) gene panels offered by different diagnostic labs. //

As a result this gene can be considered for inclusion as green in the intellectual disability and epilepsy panels.
Sources: Literature, Expert Review
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams gene: RECQL4 was added
gene: RECQL4 was added to Non-syndromic familial congenital anorectal malformations. Sources: Other
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Suggested for inclusion by Genomics England Clinical team due to association with Baller-Gerold syndrome
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.97 MID1 Eleanor Williams Publications for gene: MID1 were set to
Non-syndromic familial congenital anorectal malformations v0.96 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Classified gene: MID1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Added comment: Comment on list classification: Rating as green as more than 3 cases/families with plausible disease causing variants in the MID1 gene.
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams commented on gene: MID1: MID1 is associated with Opitz GBBB syndrome, type I in OMIM and Gene2phenotype (confirmed). The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects.
Numerous cases of mutations in the MID1 genes in Opitz syndrome patients have been identified (Quaderi et al. (1997)(PMID: 9354791), Cox et al. (2000)(PMID:11030761), Pinson et al. (2004)(PMID: 15121778),  De Falco et al. (2003)(PMID:12833403), So et al. (2005)(PMID:15558842)). Although all patients with Opitz GBBB syndrome to not show anorectal malformations, at least 3 cases with anal abnormalities have been reported (in Cox et al, Pinson et al and De Falco et al, So et al).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.22 Ellen McDonagh List of related panels changed from A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID to A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams gene: MID1 was added
gene: MID1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Review for gene: MID1 was set to AMBER
Added comment: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Sources: Expert list
Non-syndromic familial congenital anorectal malformations v0.93 RFX6 Eleanor Williams Mode of inheritance for gene: RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.92 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation; Mitchell-Riley syndrome 615710 to anorectal malformation; Mitchell-Riley syndrome 615710; MARTINEZ-FRIAS SYNDROME
Non-syndromic familial congenital anorectal malformations v0.91 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation to anorectal malformation; Mitchell-Riley syndrome 615710
Non-syndromic familial congenital anorectal malformations v0.90 RFX6 Eleanor Williams Publications for gene: RFX6 were set to
Non-syndromic familial congenital anorectal malformations v0.89 TTC7A Eleanor Williams Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.88 TTC7A Eleanor Williams Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE
Non-syndromic familial congenital anorectal malformations v0.87 TTC7A Eleanor Williams Publications for gene: TTC7A were set to
Non-syndromic familial congenital anorectal malformations v0.86 TTC7A Eleanor Williams commented on gene: TTC7A: TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867).
Non-syndromic familial congenital anorectal malformations v0.86 RFX6 Eleanor Williams commented on gene: RFX6: RFX6 is associated with Mitchell-Riley syndrome in OMIM and MARTINEZ-FRIAS SYNDROME in Gene2Phenotype (confirmed). OMIM state that there is considerable phenotypic overlap between the two syndromes, the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients. Both syndromes include intestinal atresia as a major phenotype.

Smith et al. (2010) (PMID: 20148032) report 6 unrelated probands and Sansbury et al. (2015)(PMID:26264437) report 2 related patients (double first cousins) with plausible disease causing variants in RFX6 and Mitchell-Riley syndrome. All affected individuals show duodenal atresia. Some also show intestinal phenotypes such as jejunal atresia, intestinal malrotation, duodenal/jejunal web and Meckel's diverticulum.
Early onset or syndromic epilepsy v0.503 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to AMBER
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

Two (or possibly three) of these patients had seizures.

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the epilepsy panel as amber (seizures having been reported in few of the patients).
Sources: Literature, Expert Review
Intellectual disability v2.510 TRAF7 Konstantinos Varvagiannis gene: TRAF7 was added
gene: TRAF7 was added to Intellectual disability. Sources: Expert Review,Literature
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569; 27479843; 28135719; 25363760; 25961944
Phenotypes for gene: TRAF7 were set to Global developmental delay; Abnormal heart morphology; Abnormality of digit; Abnormality of limbs
Penetrance for gene: TRAF7 were set to unknown
Review for gene: TRAF7 was set to GREEN
Added comment: PMID: 29961569 reports on 7 unrelated individuals with pathogenic variants in TRAF7. Common features included developmental delay, congenital heart defects, limb and digital anomalies as well as shared facial features (including epicanthal folds, ptosis, abnormal ears, excess nuchal skin). Two (or possibly three) of these patients had seizures. Some of these individuals had been investigated in the past for disorders of the Ras-MAPK pathway (CFC, Noonan and Costello syndrome).

The SNVs reported are missense and occured de novo in all patients for whom parental studies were possible (6 out of 7). A recurrent mutation [p.(Arg655Gln)] was found in 4 of the 7 individuals. One patient was found to harbor a mutation in the mosaic state, as a de novo occurrence.

The variants resulted in reduced activation of ERK1/2 (also known as MAPK3/MAPK1). //

7 individuals with de novo coding variants have previously been reported in large cohorts of patients with intellectual disability (PMIDs : 27479843, 28135719 - DDD study) and/or ASD (25363760, 25961944). One of the individuals from the DDD study had a stopgain variant.

The individuals from these studies are summarized in the denovo-db (http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=TRAF7). //

As a result this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Expert Review, Literature
Limb disorders v0.223 TCTN3 Rebecca Foulger Publications for gene: TCTN3 were set to
Limb disorders v0.222 TCTN3 Rebecca Foulger Marked gene: TCTN3 as ready
Limb disorders v0.222 TCTN3 Rebecca Foulger Added comment: Comment when marking as ready: Sufficient cases (>3) of polydactyly in patients with TCTN3 homozyous/compound het variants.
Limb disorders v0.222 TCTN3 Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence).
Limb disorders v0.222 TCTN3 Rebecca Foulger Classified gene: TCTN3 as Green List (high evidence)
Limb disorders v0.222 TCTN3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: Confirmed DD-G2P gene for Orofaciodigital syndrome IV, 258860 (Mohr-Majewski syndrome) which can present with Polydactyly, Brachydactyly, Clinodactyly or Syndactyly. >3 polydactyly cases from multiple populations reported in consanguineous families in PMID:22883145. Multiple variants identified in this paper (homozgyous or compound heterozygous).
Limb disorders v0.222 TCTN3 Rebecca Foulger Gene: tctn3 has been classified as Green List (High Evidence).
Limb disorders v0.221 TCTN3 Rebecca Foulger commented on gene: TCTN3: Thomas et al. 2012 (PMID:22883145) identified a nonsensense variant in TCTN3 in an aborted fetus born to a consanguineous Senegal family. Amongst other features, the fetus had polydactyly of four limbs and bowing of long bones with severe tibia hypoplasia. They identified 2 additional homozygous variants in three other fetuses (from Pakistan and Tunisia), all of whom displayed polydactyly (Table 1) together with bone defects including femoral bowing and club foot. They also reported compound heterozygous variants in 2 French fetal siblings with Orofaciodigital syndrome IV, 258860 including polydactyly. Additionally they report 2 Turkish siblings with Joubert syndrome (MIM:614815) and homozygous TCTN3 variants; one was reported with polydactyly.
Limb disorders v0.221 TCTN3 Rebecca Foulger Phenotypes for gene: TCTN3 were changed from Polydactyly to Polydactyly; Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860
Limb disorders v0.220 TCTN3 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by OMIM and Gene2Phenotype.
Limb disorders v0.220 TCTN3 Rebecca Foulger Mode of inheritance for gene: TCTN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.219 TCTEX1D2 Rebecca Foulger Mode of inheritance for gene: TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v0.218 TCTN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and Gene2Phenotype.
Limb disorders v0.218 TCTN2 Rebecca Foulger Mode of inheritance for gene: TCTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.503 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Genetic Epilepsy Syndromes. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917. MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 PIGG Konstantinos Varvagiannis gene: PIGG was added
gene: PIGG was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948; 28581210
Phenotypes for gene: PIGG were set to # 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53
Penetrance for gene: PIGG were set to Complete
Review for gene: PIGG was set to GREEN
gene: PIGG was marked as current diagnostic
Added comment: PMID: 26996948 reports on 5 individuals from 3 families, with biallelic pathogenic variants in PIGG.

Individuals from first family, were born to consanguineous parents from Egypt and were homozygous for a stopgain variant [p.(Gln310*)]. The patient from the second family had a rare missense SNV [p.(Arg669Cys)] and a de novo microdeletion affecting PIGG on her other allele. In the third family (consanguineous parents from Pakistan), two affected sibs were found to be homozygous for a splice variant.

The phenotype consisted of hypotonia, early-onset seizures and intellectual disability. Ataxia was an additional feature in one of the families.

Seizures, were observed in most of patients but do not appear to be a universal feature as they were absent in one of the sibs from the third family (10 years of age), while the other had a single episode by the age of 12 years.

In vitro testing of lymphoblastoid cell lines (generated from individuals from the 1st and 3rd family) indicated that the variants abolished completely the function of PIGG, whereas the surface level of GPI anchored proteins was normal. //

PMID: 28581210 describes the phenotype of 2 sibs from Palestine, homozygous for a stopgain variant [p.(Trp547*)]. Hypotonia, feeding difficulties, severe non-progressive ataxia (with cerebellar hypoplasia), intellectual disability and seizures were common features. Differences in severity and/or additional features might be explained by other homozygous variants (the girl had a concurrent diagnosis of MCAD deficiency).

The authors demonstrated that the PIGG transcript levels were significantly lower (approximately half) in the two siblings compared to their parents, while the transcripts with the mutation in the heterozygous parents were very low due to nonsense-mediated decay.

Patient fibroblasts showed decreased surface level of GPI-anchored proteins, in contrast with what was noted in lymphoblastoid cells in the previous study. //

PIGG has been included in gene panels for intellectual disability offered by different diagnostic labs. //

As a result this gene can be considered for inclusion in this panel as green (or amber).
Sources: Literature, Expert Review
Intellectual disability v2.510 MEIS2 Konstantinos Varvagiannis reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30291340, 30055086; Phenotypes: Oral cleft, Abnormal heart morphology, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 MAP1B Konstantinos Varvagiannis gene: MAP1B was added
gene: MAP1B was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 30150678; 29738522
Phenotypes for gene: MAP1B were set to Intellectual disability
Penetrance for gene: MAP1B were set to unknown
Review for gene: MAP1B was set to AMBER
Added comment: In PMID 30150678 the authors report on a family with 5 individuals diagnosed with intellectual disability (ID, IQ <= 70 and associated impairments in adaptive function) and 3 further relatives with IQ below 70, not fulfilling the criteria for a clinical diagnosis of ID. A frameshift variant in MAP1B segregated with the ID/low IQ phenotype. This variant was not found in 31463 Icelanders for whom whole genome sequencing data were available.

The authors confirmed association of MAP1B loss-of-function (LoF) variants by demonstrating the presence of 2 other stopgain mutations in 2 further families. Among the 6 mutation carriers in these families, the average IQ was 81 with 2 of these subjects fulfilling the criteria for intellectual disability. 3 of the 6 mutation carriers had a diagnosis of autism spectrum disorder. Carriers demonstrated 24% less white matter volume (-2.1 SD) and 47% less corpus callosum volume (-2.4 SD) compared to controls.

Mean full-scale IQ, performance IQ and verbal IQ were 68.3 (with a SD of 10.5), 66.4 (SD of 9.3) and 74.5 (SD of 14.8) in MAP1B LoF carriers.

All 3 LoF variants reported result in a truncated but stable MAP1B protein as demonstrated by western blot analysis.

MAP1B undergoes post-translational modification and is cleaved (at position 2206) into a heavy chain and a light chain. The authors note that all LoF variants lead to truncation prior to the cleavage site.

As commented by the authors, LoF variants are found in publicly available databases at a frequency of approx. 1 in 10000.

One individual with de novo frameshift variant in Decipher ( https://decipher.sanger.ac.uk/search?q=gene%3AMAP1B#research-variants/results ).

De novo and inherited MAP1B variants have previously been described in individuals with periventricular nodular heterotopia (PMID: 29738522). This was also a feature in 9 individuals in the previous ID study.

Although PMID 30150678 is entitled "MAP1B mutations cause intellectual disability and extensive white matter deficit", intellectual disability was not a feature in all individuals or was rather mild when present.
Sources: Literature, Expert Review
Intellectual disability v2.510 CAMK2G Konstantinos Varvagiannis reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30184290; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.510 NSD2 Konstantinos Varvagiannis gene: NSD2 was added
gene: NSD2 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 29892088; 29760529; 29884796; 30244530
Phenotypes for gene: NSD2 were set to Intrauterine growth retardation; Growth delay; Microcephaly; Muscular hypotonia; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: NSD2 were set to unknown
Review for gene: NSD2 was set to GREEN
gene: NSD2 was marked as current diagnostic
Added comment: PMID: 29892088 reports on 2 individuals with de novo SNVs affecting NSD2 (WHSC1). Both individuals presented with pre- and postnatal growth retardation, hypotonia, developmental delay / intellectual disability, as well as microcephaly. The authors suggest partial overlap with the phenotype of Wolf-Hirschhorn syndrome (WHS). Seizures are not part of the phenotype.The first subject had a splice site mutation while the second individual had a stopgain variant (affecting the PWWP domain).

PMID: 29760529 describes a further patient with de novo nonsense mutation in NSD2. The boy was evaluated for probable growth delay ("low physical development"), hypotonia, psychomotor delay and microcephaly. The variant affected the SET domain.

Three individuals with de novo likely loss-of-function (two frameshift and one stop gained) variants in Decipher [ https://decipher.sanger.ac.uk/search?q=NSD2#research-variants/results ].

A further patient with de novo frameshift mutation in NSD2 and a phenotype overlapping WHS reported in ClinVar [ https://www.ncbi.nlm.nih.gov/clinvar/variation/547999/ ]

PMID: 29884796 (Zollino M and Doronzio PN) comments that NSD2 (WHSC1) is a neurodevelopmental gene with a role in growth delay, intellectual disability and dysmorphic facial features.

PMID: 30244530 describes patients with 4p16.3 microdeletions spanning (exclusively) NSD2 and reviews the literature on patients with small microdeletions reported to date. All relevant individuals present with developmental delay and (rather mild) intellectual disability apart from other characteristics such as microcephaly, growth retardation and some facial features also observed in WHS.

In Decipher one individual (286913) with a single CNV spanning exclusively NSD2 presenting with IUGR, failure to thrive, feeding difficulties, postnatal microcephaly, hypotonia, developmental delay as well as possibly relevant facial features.

The gene is included in ID gene panels offered by various labs (either as NSD2 or WHSC1).

As a result it can be considered for inclusion in the panel as green.
Sources: Literature, Expert Review
Early onset or syndromic epilepsy v0.503 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Genetic Epilepsy Syndromes. Sources: Expert Review,Literature
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Expert Review, Literature
Intellectual disability v2.510 KCNK4 Konstantinos Varvagiannis gene: KCNK4 was added
gene: KCNK4 was added to Intellectual disability. Sources: Literature,Expert Review
Mode of inheritance for gene: KCNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK4 were set to 30290154
Phenotypes for gene: KCNK4 were set to Neurodevelopmental delay; Intellectual disability; Seizures; Gingival overgrowth; Hypertrichosis
Penetrance for gene: KCNK4 were set to unknown
Mode of pathogenicity for gene: KCNK4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KCNK4 was set to AMBER
Added comment: PMID: 30290154 reports on 3 unrelated individuals with de novo missense KCNK4 variants. All three individuals presented with developmental delay and epilepsy. Severe intellectual disability was a feature in two of these individuals while the third displayed low average intellectual functioning (IQ of 85). Other features common in all included facial dysmorphism (bushy eyebrows, long eyelashes, thin everted upper lip, micrognathia), generalized hypertrichosis and gingival overgrowth.

The two missense variants reported [(p.Ala172Glu) and (p.Ala244Pro)] occurred as de novo events in all subjects, while the first SNV was observed in 2 (of the 3) patients with severe intellectual disability.

Functional studies were suggestive of a gain-of-function effect. In line with this mechanism, Kcnk4 knockout mice did not seem to exhibit seizures, deficits in cognition or other neurodevelopmental phenotypes in a study conducted earlier and cited by the authors (PMID: 15175651).

As a result this gene can be considered for inclusion in the panel as amber (or green).
Sources: Literature, Expert Review
Limb disorders v0.217 TCTN2 Rebecca Foulger Marked gene: TCTN2 as ready
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment when marking as ready: 2 cases of polydactyl in literature plus mouse model.
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.217 TCTN2 Rebecca Foulger Classified gene: TCTN2 as Green List (high evidence)
Limb disorders v0.217 TCTN2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: 2 cases of polydactyly in literature as part of Joubert syndrome (PMID:25118024) and Meckel-Gruber syndrome (PMID:21462283) PLUS mouse model of polydactyly (PMID:21565611).
Limb disorders v0.217 TCTN2 Rebecca Foulger Gene: tctn2 has been classified as Green List (High Evidence).
Limb disorders v0.216 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly to Polydactyly; Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders v0.215 TCTN2 Rebecca Foulger commented on gene: TCTN2: Sang et al (2011, PMID:21565611) report a mouse model of Tctn2-/- embryos that exhibit defects including single hindlimb preaxial polydactyly, either bilaterally or unilaterally.
Limb disorders v0.215 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to 25118024; 21565611
Limb disorders v0.214 TCTN2 Rebecca Foulger commented on gene: TCTN2: In affected members of a consanguineous Arab family with Meckel-Gruber syndrome, Shaheen et al. (2011, PMID:21462283) identified homozygosity for a splice site mutation in the TCTN2 gene (1506-2A-G). Phenotypes included polydactyly in all recorded patients.
Limb disorders v0.214 TCTN2 Rebecca Foulger Publications for gene: TCTN2 were set to
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2: Huppke et al. (2015, PMID:25118024) reported a 7.5-year-old Turkish boy, born of consanguineous parents, with a neurodevelopmental disorder consistent with Joubert syndrome. At birth, the patient was noted to have postaxial hexadactyly of all 4 extremities. The authors identified a homozygous splice site mutation in the TCTN2 gene (c.1235-1G-A, NM_024809.4). The unaffected mother was heterozygous for the variant.
Limb disorders v0.213 TCTN2 Rebecca Foulger commented on gene: TCTN2
Intellectual disability v2.510 PORCN Ellen McDonagh Added comment: Comment on mode of inheritance: For Focal dermal hypoplasia, heterozygous females are affected. Confirmed with the Genomics England Clinical Team prior to revision from biallelic in females.
Intellectual disability v2.510 PORCN Ellen McDonagh Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh Tag watchlist tag was added to gene: HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.11 HNRNPDL Ellen McDonagh commented on gene: HNRNPDL: When the gene is knocked down in zebrafish it causes a myopathic phenotype (same study). No new cases have been reported in the literature since this publication in 2014.
Monogenic hearing loss v1.47 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.46 KCNQ4 Ellen McDonagh commented on gene: KCNQ4: Updating the mode of inheritance from monoallelic to 'both', after feedback from an Expert Reviewer who has another case in their lab. Feedback also included that the mice model with a homozygous 'dominant negative' mutation are also affected by progressive deafness.
Monogenic hearing loss v1.46 KCNQ4 Ellen McDonagh Source Expert was removed from KCNQ4.
Mode of inheritance for gene KCNQ4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic hearing loss v1.45 KCNQ4 Ellen McDonagh Tag watchlist tag was added to gene: KCNQ4.
Monogenic hearing loss v1.45 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to 26036578; 10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.44 KCNQ4 Ellen McDonagh Publications for gene: KCNQ4 were set to PMID:10025409; 10080176; 10369879; 10571947; 10760249; 10760300; 10925378; 11450843; 12112653; 12670425; 16596322; 18030493; 20966080; 8035838; 9126484
Monogenic hearing loss v1.43 WHRN Ellen McDonagh commented on gene: WHRN
Monogenic hearing loss v1.43 KARS Ellen McDonagh commented on gene: KARS
Monogenic hearing loss v1.43 ILDR1 Ellen McDonagh commented on gene: ILDR1
Monogenic hearing loss v1.43 HSD17B4 Ellen McDonagh commented on gene: HSD17B4
Monogenic hearing loss v1.43 GRXCR1 Ellen McDonagh commented on gene: GRXCR1
Monogenic hearing loss v1.43 GRHL2 Ellen McDonagh commented on gene: GRHL2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GPSM2 Ellen McDonagh commented on gene: GPSM2
Monogenic hearing loss v1.43 GJB2 Ellen McDonagh commented on gene: GJB2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GJB2 Ellen McDonagh commented on gene: GJB2: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 GIPC3 Ellen McDonagh commented on gene: GIPC3
Monogenic hearing loss v1.43 EYA4 Ellen McDonagh commented on gene: EYA4: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 EYA1 Ellen McDonagh commented on gene: EYA1
Monogenic hearing loss v1.43 ESRRB Ellen McDonagh commented on gene: ESRRB
Monogenic hearing loss v1.43 EDNRB Ellen McDonagh commented on gene: EDNRB: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 EDN3 Ellen McDonagh commented on gene: EDN3: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 DFNA5 Ellen McDonagh commented on gene: DFNA5: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 DFNB59 Ellen McDonagh commented on gene: DFNB59
Monogenic hearing loss v1.43 COCH Ellen McDonagh commented on gene: COCH: New review confirms gene status and mode of inheritance; no changes required.
Monogenic hearing loss v1.43 CLRN1 Ellen McDonagh commented on gene: CLRN1
Monogenic hearing loss v1.43 CLPP Ellen McDonagh commented on gene: CLPP
Monogenic hearing loss v1.43 CLDN14 Ellen McDonagh commented on gene: CLDN14
Monogenic hearing loss v1.43 CIB2 Ellen McDonagh commented on gene: CIB2
Monogenic hearing loss v1.43 CDH23 Ellen McDonagh commented on gene: CDH23: New review confirms gene status and mode of inheritance; no changes required.
Amelogenesis imperfecta v1.5 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Amelogenesis Imperfecta. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies. This gene is not related to a disease in OMIM or Gene2Phenotype.
Sources: Literature
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh commented on gene: SLC10A7: This gene is not related to a disease in OMIM or Gene2Phenotype.
Skeletal dysplasia v1.127 SLC10A7 Ellen McDonagh gene: SLC10A7 was added
gene: SLC10A7 was added to Unexplained skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta
Added comment: PMID: 30082715 reports five different SLC10A7 variants in four patients from four unrelated families and two patients from two distantly related families. The study states that the variants segregated according to a recessive mode of inheritance, however the genotype was not shown on the pedigree diagram. Further evidence was provided in a knockout mouse model that displayed abnormal development of skeletal structures and teeth anomalies.
Sources: Literature
Limb disorders v0.213 TCTN2 Rebecca Foulger Phenotypes for gene: TCTN2 were changed from Polydactyly to Polydactyly; Joubert syndrome 24, 616654, ?Meckel syndrome 8, 613885; postaxial polydactyly
Limb disorders v0.212 DYNC2H1 Rebecca Foulger commented on gene: DYNC2H1
Limb disorders v0.212 DYNC2H1 Rebecca Foulger Publications for gene: DYNC2H1 were set to 19442771; 19361615; 22499340
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Marked gene: TCTEX1D2 as ready
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: Added 'watchlist' tag.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Tag watchlist tag was added to gene: TCTEX1D2.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Classified gene: TCTEX1D2 as Amber List (moderate evidence)
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber: Two cases (PMID:26044572) presenting with polydactyly and/or brachydactyly as part of Short-rib thoracic dysplasia. A further case in the same paper removes part of the TM4SF19 gene in addition to part of the TCTEX1D2 gene. Therefore require further evidence of TCTEX1D2 variants causing limb phenotype before rating Green.
Limb disorders v0.211 TCTEX1D2 Rebecca Foulger Gene: tctex1d2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2: In a third family (UCL4) reported by Schmidts et al. (2015, PMID:26044572), 3 affected sibs were homozygous for a more than 10-kb deletion removing the start codon and exons 1 and 2 of the TCTEX1D2 gene (and exons 2-5 of the neighbouring TM4SF19 gene). The deletion was also detected in 2 apparently unaffected sibs, indicating reduced penetrance. Some members of this family showed mild brachydactyly.
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger commented on gene: TCTEX1D2
Limb disorders v0.210 TCTEX1D2 Rebecca Foulger Publications for gene: TCTEX1D2 were set to
Limb disorders v0.209 TCTEX1D2 Rebecca Foulger Phenotypes for gene: TCTEX1D2 were changed from Polydactyly to Polydactyly; Short-rib thoracic dysplasia 17 with or without polydactyly, 617405; Brachydactyly
Limb disorders v0.208 TBX22 Rebecca Foulger Marked gene: TBX22 as ready
Limb disorders v0.208 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence).
Limb disorders v0.208 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to 21375406; 839509
Limb disorders v0.207 TBX22 Rebecca Foulger Classified gene: TBX22 as Red List (low evidence)
Limb disorders v0.207 TBX22 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red: there is some evidence linking limb anomalies to TBX22 variants (PMID:21375406) but currently insufficient cases for inclusion on a diagnostic panel.
Limb disorders v0.207 TBX22 Rebecca Foulger Gene: tbx22 has been classified as Red List (Low Evidence).
Limb disorders v0.206 TBX22 Rebecca Foulger commented on gene: TBX22: Abruzzo-Erickson syndrome (MIM:302905, reported by Abruzzo and Erickson in 1977, PMID:839509) includes radial synostosis (an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth).
Limb disorders v0.206 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to
Limb disorders v0.205 TBX22 Rebecca Foulger commented on gene: TBX22
Limb disorders v0.205 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis; upper limb anomalies; clinodactyly
Limb disorders v0.204 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from Polydactyly to Polydactyly; ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400; Radioulnar synostosis
Limb disorders v0.203 TBX22 Rebecca Foulger Mode of inheritance for gene: TBX22 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb disorders v0.202 SPINT2 Rebecca Foulger Marked gene: SPINT2 as ready
Limb disorders v0.202 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence).
Limb disorders v0.202 SPINT2 Rebecca Foulger commented on gene: SPINT2: Added 'watchlist' tag: require further evidence for a diagnostic rating.
Limb disorders v0.202 SPINT2 Rebecca Foulger Tag watchlist tag was added to gene: SPINT2.
Limb disorders v0.202 SPINT2 Rebecca Foulger Classified gene: SPINT2 as Amber List (moderate evidence)
Limb disorders v0.202 SPINT2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber. 2 cases from literature where congenital diarrhea (CSD) presents with hexadactyly. Need more evidence before rating as diagnostic.
Limb disorders v0.202 SPINT2 Rebecca Foulger Gene: spint2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.509 RAC3 Konstantinos Varvagiannis gene: RAC3 was added
gene: RAC3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC3 were set to 30293988; 29276006
Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability
Penetrance for gene: RAC3 were set to unknown
Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RAC3 was set to GREEN
Added comment: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients.

All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance).

Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family.

Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006).

As a result, this gene can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature
CAKUT v1.27 BNC2 Louise Daugherty Tag watchlist tag was added to gene: BNC2.
CAKUT v1.27 BNC2 Louise Daugherty Classified gene: BNC2 as Amber List (moderate evidence)
CAKUT v1.27 BNC2 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer. Changed from Red to Amber and added tag watchlist. Awaiting publication before making gene green.
CAKUT v1.27 BNC2 Louise Daugherty Gene: bnc2 has been classified as Amber List (Moderate Evidence).
CAKUT v1.26 BNC2 Louise Daugherty Phenotypes for gene: BNC2 were changed from PUV to Posterior urethral valves; PUV
Intellectual disability v2.509 PCGF2 Louise Daugherty commented on gene: PCGF2: Added watchlist tag.
Intellectual disability v2.509 PCGF2 Louise Daugherty Tag watchlist tag was added to gene: PCGF2.
Intellectual disability v2.509 MSL3 Konstantinos Varvagiannis reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30224647; Phenotypes: Muscular hypotonia, Feeding difficulties, Neurodevelopmental delay, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams commented on gene: FOXF1: Genomics England clinical team suggest inclusion of this gene as an infant might be investigated for anorectal malformation before recognising the cause of the respiratory problems.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Classified gene: FOXF1 as Green List (high evidence)