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| Mackenzie's Mission_Reproductive Carrier Screening v0.22 | CSTB | Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.21 | GTPBP2 |
Zornitza Stark gene: GTPBP2 was added gene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988 Review for gene: GTPBP2 was set to GREEN Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.17 | TRAPPC6B |
Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267 Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Review for gene: TRAPPC6B was set to GREEN Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WWOX |
Zornitza Stark gene: WWOX was added gene: WWOX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UBA5 |
Zornitza Stark gene: UBA5 was added gene: UBA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TBC1D24 |
Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | STRADA |
Zornitza Stark gene: STRADA was added gene: STRADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SPATA5 |
Zornitza Stark gene: SPATA5 was added gene: SPATA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC25A22 |
Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC13A5 |
Zornitza Stark gene: SLC13A5 was added gene: SLC13A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC12A5 |
Zornitza Stark gene: SLC12A5 was added gene: SLC12A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SCARB2 |
Zornitza Stark gene: SCARB2 was added gene: SCARB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PRICKLE1 |
Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PLPBP |
Zornitza Stark gene: PLPBP was added gene: PLPBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NHLRC1 |
Zornitza Stark gene: NHLRC1 was added gene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LEP |
Zornitza Stark gene: LEP was added gene: LEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IER3IP1 |
Zornitza Stark gene: IER3IP1 was added gene: IER3IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GOSR2 |
Zornitza Stark gene: GOSR2 was added gene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FRRS1L |
Zornitza Stark gene: FRRS1L was added gene: FRRS1L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EPM2A |
Zornitza Stark gene: EPM2A was added gene: EPM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DENND5A |
Zornitza Stark gene: DENND5A was added gene: DENND5A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CNTNAP2 |
Zornitza Stark gene: CNTNAP2 was added gene: CNTNAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 610042 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ARV1 |
Zornitza Stark gene: ARV1 was added gene: ARV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ARHGEF9 |
Zornitza Stark gene: ARHGEF9 was added gene: ARHGEF9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AP3B2 |
Zornitza Stark gene: AP3B2 was added gene: AP3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDH7A1 |
Zornitza Stark gene: ALDH7A1 was added gene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3) |
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