Activity
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23 actions
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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 v0.16 | TRAPPC12 |
Zornitza Stark gene: TRAPPC12 was added gene: TRAPPC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC12 were set to 32369837; 28777934 Phenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Review for gene: TRAPPC12 was set to GREEN Added comment: Four families reported with a severe progressive encephalopathy characterized by microcephaly, global developmental delay, and hearing loss. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | XPC |
Zornitza Stark gene: XPC was added gene: XPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TRAPPC9 |
Zornitza Stark gene: TRAPPC9 was added gene: TRAPPC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TRAPPC11 |
Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PMPCA |
Zornitza Stark gene: PMPCA was added gene: PMPCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCYT1A |
Zornitza Stark gene: PCYT1A was added gene: PCYT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 608940 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCSK1 |
Zornitza Stark gene: PCSK1 was added gene: PCSK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCNT |
Zornitza Stark gene: PCNT was added gene: PCNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 210720 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCDH12 |
Zornitza Stark gene: PCDH12 was added gene: PCDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 607625 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 257220 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LIPC |
Zornitza Stark gene: LIPC was added gene: LIPC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPC6 |
Zornitza Stark gene: GPC6 was added gene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 312870 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | G6PC |
Zornitza Stark gene: G6PC was added gene: G6PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EPCAM |
Zornitza Stark gene: EPCAM was added gene: EPCAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ARPC1B |
Zornitza Stark gene: ARPC1B was added gene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive |
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