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| Mackenzie's Mission_Reproductive Carrier Screening v0.109 | LIG4 | Santosh Varughese reviewed gene: LIG4: 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: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982; Phenotypes: lIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | IGFBP7 | Crystle Lee reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (MIM#614224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | ALG2 |
Crystle Lee changed review comment from: One additional variant reported in association with CDG on top of the previous patients reported with CDG/congenital myasthenia PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276) Association with myasthenia: Two families reported, same, likely founder variant. Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity.; to: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276) Association with myasthenia: Two families reported, same, likely founder variant. Association with CDG: one individual with multisystemic disorder with ID, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities reported in PMID 12684507. Fibroblasts showed severely reduced enzymatic activity. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | ALG2 | Crystle Lee reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276; Phenotypes: Congenital disorder of glycosylation, type Ii (MIM#607906), Myasthenic syndrome, congenital, 14, with tubular aggregates (MIM#616228); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | TSPAN7 | Crystle Lee reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | SGO1 | Crystle Lee reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia (MIM#616201); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | VPS37A | Crystle Lee reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | UQCRQ | Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | TSPAN7 | Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.108 | NUP62 | Zornitza Stark reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.104 | LDHB | Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.104 | NDUFA11 | Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.104 | ACY1 |
Zornitza Stark gene: ACY1 was added gene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009 Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924 Review for gene: ACY1 was set to GREEN Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.103 | BCAP31 |
Zornitza Stark gene: BCAP31 was added gene: BCAP31 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 24011989; 31330203; 33603160 Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Review for gene: BCAP31 was set to GREEN Added comment: More than 20 unrelated families reported. Clinical features include severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. Female carriers are mostly asymptomatic but may present with deafness. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | LTBP3 | Zornitza Stark changed review comment from: Consider changing the listed disease association relevant to this panel.; to: Consider changing the listed disease association relevant to this panel: currently set to 'tooth agenesis'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | LTBP3 | Zornitza Stark reviewed gene: LTBP3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Dental anomalies and short stature, MIM# 601216; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | MCM4 | Zornitza Stark reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | SGO1 | Zornitza Stark reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | GK | Sarah Righetti reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: 8651297, 9719371; Phenotypes: Glycerol kinase deficiency, MIM# 307030; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | SAMD9 | Sarah Righetti reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, MIM# 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | FTCD | Sarah Righetti reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 5956503, 5897668, 4413489, 29178637; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | SNORD118 | Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | SNORD118 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | SNORD118 | Sarah Righetti reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.99 | POLA1 | Seb Lunke Phenotypes for gene: POLA1 were changed from Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.93 | COL2A1 | Seb Lunke Mode of inheritance for gene: COL2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.88 | CLCN4 | Seb Lunke Mode of inheritance for gene: CLCN4 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.86 | NEXMIF | Seb Lunke Mode of inheritance for gene: NEXMIF 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.85 | NHS | Seb Lunke Mode of inheritance for gene: NHS 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.84 | COL4A5 | Seb Lunke Mode of inheritance for gene: COL4A5 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.81 | MOGS | Seb Lunke Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | LRSAM1 | Zornitza Stark reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | HK1 | Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19536174, 26822750; Phenotypes: Neuropathy, hereditary motor and sensory, Russe type , MIM#605285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | PDE6B | Sarah Righetti reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa-40, MIM #613801; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | IMPG2 | Sarah Righetti reviewed gene: IMPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 56 MIM #613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | FAM161A | Sarah Righetti reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, MIM #606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.70 | ZNF469 | Sarah Righetti reviewed gene: ZNF469: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Brittle cornea syndrome 1, MIM #229200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | RPL10 |
Sarah Righetti changed review comment from: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722. Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation); to: 4 reports of RPL10 variants linked to autism. Connection of RPL10 with autism is queried in the literature - PMID: 23871722. Note that there is sufficient evidence for the syndromal form of the condition - Mental retardation, X-linked, syndromic, 35, MIM #300998 (families with 2,3 and 4 affected males, evidence of segregation). The syndromal form is rare - a total of 10 males have been reported in the literature (PMID: 29066376). Given the disputed link to autism, and rarity of the syndromal form of the condition, the gene has been excluded from the MM panel. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke changed review comment from: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom.; to: Comment when marking as ready: In gnomAD as p.Gly90Cys with >700hets and 5hom. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.69 | KRT8 | Seb Lunke Added comment: Comment when marking as ready: In gnamAD as p.Gly90Cys with >700hets and 5hom. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.65 | ACSF3 | Seb Lunke Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.62 | RPL10 | Seb Lunke Added comment: Comment on list classification: Remaining green due to X-linked neurodevelopment condition until further clarification. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.56 | ABCC6 | Seb Lunke Phenotypes for gene: ABCC6 were changed from Arterial calcification, generalized, of infancy, 2, 614473 (3) to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | OPN1LW | Sarah Righetti reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blue cone monochromacy, MIM#303700, Colorblindness, protan, MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | ABCA4 | Sarah Righetti reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stargardt disease 1 MIM#248200, Retinal dystrophy, early-onset severe MIM#248200, Cone-rod dystrophy 3 MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | ABCC6 |
Sarah Righetti edited their review of gene: ABCC6: Added comment: Decision to exclude gene from MM list on 01/04/21. The gene-phenotype relationship is not easy to predict, and GACI Type 2 is extremely rare - ~1 in 4 million births. The majority of couples we detect with pathogenic variants in ABBC6 will be at increased risk for PXE which does not meet severity criteria for inclusion. There are also technical issues caused by 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; Changed rating: RED; Changed phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473 |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | TXNL4A | Zornitza Stark reviewed gene: TXNL4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: Burn-McKeown syndrome, MIM# 608572, Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.54 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491 Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Review for gene: ITGA3 was set to GREEN Added comment: This is a neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease. More than 5 unrelated families reported. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.53 | Zornitza Stark removed gene:ITGA3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.51 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491 Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Review for gene: ITGA3 was set to GREEN Added comment: This is a severe neonatal multi-organ disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the commonly lethal course of the disease. More than 5 unrelated families reported. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | ACSF3 | Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | RPL10 | Sarah Righetti reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 16940977, 21567917, 23871722; Phenotypes: {Autism, susceptibility to, X-linked 5}, MIM #300847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | ACSF3 | Sarah Righetti reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 2682711, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | KRT8 | Sarah Righetti reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | DPAGT1 | Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12872255, 22492991, 22304930, 31153949, 30653653, 30117111; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DP, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750AGT1-CDG MONDO:0011964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.50 | COG5 |
Zornitza Stark gene: COG5 was added gene: COG5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 23228021; 31572517; 32174980 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612 Review for gene: COG5 was set to GREEN Added comment: More than 5 unrelated families reported. Intellectual disability is part of the phenotype. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | TNFRSF13B | Sarah Righetti reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 29114388, 22983507, 22697072, 19779048, 31681265; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | YIF1B | Edwin Kirk reviewed gene: YIF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | TMEM94 | Edwin Kirk reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | PUS7 | Edwin Kirk reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | PTPN23 | Edwin Kirk reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | FITM2 | Edwin Kirk reviewed gene: FITM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | ADPRHL2 |
Edwin Kirk changed review comment from: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view.; to: I agree this is a straightforward GREEN for Mackenzie's Mission. Clearly severe enough phenotype and meets evidence criteria. Only two publications (three if you count PMC5589982) but both with multiple families, consistent phenotype. Change of gene symbol important to note from pipeline point of view. Note - I don't think I selected a rating when I entered the above, not certain if this matters. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | DYNC1I2 | Edwin Kirk reviewed gene: DYNC1I2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.49 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 31925597; 30587846; 33058492 Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056 Review for gene: MOGS was set to GREEN Added comment: Six unrelated families reported. Common features include: hypotonia, global developmental delay, feeding problems, seizures, movement disorder, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.48 | EDA | Sarah Righetti reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.48 | NTNG2 |
Zornitza Stark gene: NTNG2 was added gene: NTNG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTNG2 were set to 31668703; 31692205 Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 Review for gene: NTNG2 was set to GREEN Added comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities. More than 8 families reported. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NHS | Sarah Righetti reviewed gene: NHS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | COL4A5 | Sarah Righetti reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NEXMIF | Sarah Righetti reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 98, MIM #300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | CLCN4 | Sarah Righetti reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, MIM #300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX | Sarah Righetti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX |
Sarah Righetti edited their review of gene: NYX: Added comment: Clinical summary: Function of rods disrupted - difficulty seeing in low light. Other vision problems including reduced acuity (20/30 to 20/200) which is considered mild-moderate visual impairment or reduced-low vision. 20/40 is Australian legal driving limit. Myopia - can range from low to high. May have nystagmus/strabismus. Color vision not affected. Non-progressive, present at birth. Severe end of phenoypic spectrum meets MM criteria for inclusion - GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | NYX | Sarah Righetti reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | COL2A1 | Sarah Righetti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | COL2A1 |
Sarah Righetti edited their review of gene: COL2A1: Added comment: Limited evidence for a recessive condition. 8 patients from 5 families, at least 2 mildly affected. Almost all literature dominant. PMID: 31755234 (Girisha et al. 2020) six patients from 4 families, variability in phenotype. PMID: 32896647 (Al-Sannaa et al 2020) two sibs from consang family with disproportionate short stature, ocular abnormalities, cleft palate and hearing impairment. Radiographic study showed signs of a spondyloepiphyseal dysplasia, compatible with a type 2 collagen disorder. Both siblings homozygous for c.3111+2T > C p.(Glu1 033Lysfs *5) splice site variant in the COL2A1 gene. Het parents phenotypically normal. cDNA analysis on skin fibroblasts demonstrated abberant splicing. Created: 6 Nov 2020, 4:59 a.; Changed rating: AMBER |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | COL2A1 | Sarah Righetti reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | MBTPS1 |
Sarah Righetti gene: MBTPS1 was added gene: MBTPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review,Literature Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013 Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392 Review for gene: MBTPS1 was set to AMBER Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. Sources: Expert Review, Literature |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | TBX22 |
Sarah Righetti gene: TBX22 was added gene: TBX22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400 Review for gene: TBX22 was set to RED Added comment: Treatable condition. RED on phenotypic grounds. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | POLA1 | Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | POLA1 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | POLA1 |
Sarah Righetti changed review comment from: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. See PMID: 27019227. Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association.; to: Immunodeficieny phenotype MIM#301220 has strong gene-disease association but is caused by a specific deep intronic variant that is not detectable by MM ES. PMID: 27019227. Van Esch-O'Driscoll syndrome MIM #30103, which is ID, is described in a single paper PMID 31006512. 5 families, 5 variants in 9 patients, AMBER for gene-disease association. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | POLA1 | Sarah Righetti reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27019227; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM #301220, Van Esch-O'Driscoll syndrome, MIM #301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | UPB1 | Sarah Righetti reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 24526388; Phenotypes: Beta-ureidopropionase deficiency, MIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | UPB1 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | UPB1 | Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. ; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | UPB1 | Sarah Righetti changed review comment from: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.; to: Insufficient evidence that abolition of enzymatic activity is disease-causing. LOF/pathogenic missense alleles at high frequency in general population.In particular, the most frequently reported variant, p.Arg326Gln, is very common among East Asians, with a carrier frequency of 1 in 20 and 1 in 907 being homozygous for the variant. Moreover, published reports (PMID: 24526388) include multiple individuals with mild or no phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.47 | UPB1 | Sarah Righetti reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.45 | SLC35A3 | Seb Lunke Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures to Arthrogryposis, mental retardation, and seizures (MIM615553) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | EMG1 | Sarah Righetti reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | SLC35A3 | Sarah Righetti reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24031089, 28777481, 28328131; Phenotypes: Arthrogryposis, mental retardation, and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.44 | ERBB3 |
Sarah Righetti changed review comment from: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom 8bp insertion. Phenotype similar to that of null mice. PMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture PMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation; to: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom splice variant in intron 10 (IVS10-8A→G) causing fs & premature protein truncation. Fnal studies confirm aberrant splicing. Phenotype similar to that of null mice. PMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture PMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | MSTO1 |
Sarah Righetti gene: MSTO1 was added gene: MSTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 31463572; 30684668 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675 Review for gene: MSTO1 was set to GREEN Added comment: PMID 31463572: 12 patients PMID 30684668: 2 sibs - compound het fs and missense. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB |
Sarah Righetti changed review comment from: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype. Severe phenotype.; to: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity - likely to be other factors which contribute to phenotype. Severe phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB |
Sarah Righetti commented on gene: IL10RB: Sufficient patients reported (note protein encoded by IL10RB is IL10R2) 19890111: 2 affected sibs with hom stop-gain. 22549091: 8 patients - although a couple where the pathogenicity is in doubt, sufficient overall evidence. Note patient 1 and patient 2 (siblings sharing the same homozygous mutation) had different disease severity) - likely to be other factors which contribute to phenotype. Severe phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti reviewed gene: IL10RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890111, 22549091; Phenotypes: Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#612567; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | IL10RB | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | XPNPEP3 | Sarah Righetti reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | UQCRC2 | Sarah Righetti reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | GALT |
Sarah Righetti changed review comment from: Now included in all states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.; to: Not included on NBS in Victoria, included in all three states for consistency. Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype. |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | GALT | Sarah Righetti reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM #230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | ERBB3 | Sarah Righetti reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17701904, 31752936, 28454995; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | ERBB3 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | ERBB3 | Sarah Righetti reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17701904, 31752936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TUBA8 | Sarah Righetti reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TUBA8 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TUBA8 | Sarah Righetti reviewed gene: TUBA8: Rating: ; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM #613180; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | TSPYL1 | Sarah Righetti reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 19463995, 22137496, 25449952, 16418600; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome, MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | PIP5K1C | Sarah Righetti reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701898; Phenotypes: Lethal congenital contractural syndrome 3, MIM# 611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | AFF2 |
Sarah Righetti gene: AFF2 was added gene: AFF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review 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 Mental retardation, X-linked, FRAXE type, #309548 Added comment: Mechanism of disease is triplet repeat expansion. FRAXE less severe and much rarer than FRAXA. Excluded from MM screening panel on technical grounds. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.32 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959 Review for gene: SPEG was set to GREEN Added comment: Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some individuals die in infancy, and some develop dilated cardiomyopathy. More than 10 unrelated families reported, functional data. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.31 | ACADM |
Sarah Righetti changed review comment from: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. TREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken. Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. Sources: Expert Review; to: Mutational and clinical spectrum: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. Treatment: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken. Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.31 | KCNE1 |
Seb Lunke changed review comment from: Comment by Ivan Macciocca: as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group: Genetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant segregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS. Comment by Zornitza Stark: Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited. Additional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463); to: Comment by Ivan Macciocca: as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group: Genetic evidence associating this gene with disease causality was also based on a candidate gene approach and was limited in scope. There is strong evidence for a role of KCNE1 in acquired LQTS which led the panel to classify it as having limited evidence for disease causality for unprovoked LQTS, although studies in large families with variant segregation is lacking. Furthermore, several case reports have identified homozygous or compound heterozygous rare variants in KCNE1 in patients with Jervell and Lange-Nielsen syndrome; however, parents or siblings carrying only 1 allele have reported normal phenotypes, suggesting an association of this gene with an autosomal-recessive form of LQTS. Comment by Zornitza Stark: Rated as MODERATE by ClinGen for bi-allelic disease. Evidence for mono-allelic disease is limited. Additional: Technically challenging as only coding exon has reduced mappability and putative (but disputed) pseudogene KCNE1B that was introduced in GRCh38, but is not present in GRCh37/hg19 (PMID31527855, PMID30936463) Association with Long-QT is questionable. Remains GREEN for Deafness, but on balance does not currently meet inclusion criteria for Mackenzie's Mission |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.30 | KCNE1 | Seb Lunke reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31527855, 30936463, 31983240; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.30 | PIBF1 | Sarah Righetti reviewed gene: PIBF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26167768, 29695797, 30858804, 33004012; Phenotypes: JOUBERT SYNDROME 33, OMIM# 617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.30 | PIBF1 | Sarah Righetti Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.28 | ACADM |
Sarah Righetti gene: ACADM was added gene: ACADM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 Review for gene: ACADM was set to GREEN Added comment: MUTATIONAL AND CLINICAL SPECTRUM: Most common variant is NM_000016.6:c.985A>G p.K329E (p.K304E in mature protein) seen hom/chet in patients with classical MCAD deficiency, also seen chet in asymptomatic siblings. Beware existence of pseudodeficiency alleles (e.g. chet c.199T>C p.Y67H) where individuals have reduced enzymatic activity and so are positive on NBS but do not usually have clinical symptoms. TREATMENT: Covered on NBS, generally very successful treatment with mainly dietary management. However 3 neonates in past year at WCH who have had cardiac/respiratory arrests before 48 hours (i.e. prior to NBS results being available). There are a number of babies who have died or had brain damage as a result of hypoglycemia prior to the test being taken. Summary: GREEN; meets MM panel inclusion criteria where early diagnosis can lead to more effective treatment. Counsel accordingly. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.28 | B9D1 |
Sarah Righetti gene: B9D1 was added gene: B9D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 24886560; 21493627; 25920555 Phenotypes for gene: B9D1 were set to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120 Added comment: PMID: 24886560 - 2 unrelated patients with mild Joubert syndrome (1 hom missense, 1 chet inframe deletion/missense). Authors suggest biallelic null variants are lethal. PMID: 21493627 - 1 fetus with Meckel syndrome and chet for a splice/gene deletion. The splice variant proven to result in exon skipping -> PTC, but the deletion spans a large region including 18 other genes. Patient also had an additional variant in CEP290 called LP. Authors perform functional studies on patient cells but given the large deletion/CEP290 variant, results cannot be used. PMID 25920555 - another report of digenic inheritance - not usable, patient was only heterozygous for a single B9D1 variant Summary: 2 unrelated patients, AMBER Sources: Literature |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | PIBF1 |
Sarah Righetti gene: PIBF1 was added gene: PIBF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Literature Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to 26167768; 29695797; 30858804; 33004012 Phenotypes for gene: PIBF1 were set to OMIM# 617767: JOUBERT SYNDROME 33; JBTS33 Review for gene: PIBF1 was set to AMBER Added comment: Seven Joubert families, four with the same founder variant (all Hutterite) Sources: Literature |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | TRAC | Sarah Righetti changed review comment from: Two individuals from two unrelated consanguinous families with same homozygous truncating variant; to: Two unrelated individuals from two consanguinous families of Pakistani origin with same homozygous truncating variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | TRAC | Sarah Righetti reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | ABCC6 | Sarah Righetti reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | KCNE1 | Sarah Righetti reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.27 | SERPINA1 | Sarah Righetti reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.25 | CBS | Seb Lunke reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.25 | CD81 | Zornitza Stark edited their review of gene: CD81: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | CD81 | Zornitza Stark commented on gene: CD81: Discussed with Edwin Kirk, downgrade to RED for MM panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | ERBB3 | Zornitza Stark reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | CD81 | Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | SEMA4A | Zornitza Stark reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | CIB2 | Zornitza Stark reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 23023331, 23023331, 26173970, 26473954, 27344577, 26226137, 26445815; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | VPS37A | Zornitza Stark reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, MIM# 614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | DSTYK | Zornitza Stark reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | ISCA1 |
Zornitza Stark gene: ISCA1 was added gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. Sources: Expert Review |
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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 v0.22 | ADPRHL2 |
Zornitza Stark gene: ADPRHL2 was added gene: ADPRHL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review new gene name tags were added to gene: ADPRHL2. Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30100084; 30401461 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Review for gene: ADPRHL2 was set to GREEN Added comment: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy. New HGNC approved name is ADPRS. Sources: Expert Review |
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| 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 v0.20 | FITM2 |
Zornitza Stark gene: FITM2 was added gene: FITM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FITM2 were set to 28067622; 30214770; 30288795 Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635 Review for gene: FITM2 was set to GREEN Added comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from 3 unrelated families reported, supportive Drosophila model. Sources: Expert list |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.19 | YIF1B |
Zornitza Stark gene: YIF1B was added gene: YIF1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 32006098; 26077767 Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement Review for gene: YIF1B was set to GREEN Added comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.18 | DYNC1I2 |
Zornitza Stark gene: DYNC1I2 was added gene: DYNC1I2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Review for gene: DYNC1I2 was set to GREEN Added comment: Five individuals from three unrelated families reported. 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 v0.16 | 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 v0.15 | TPRKB |
Zornitza Stark gene: TPRKB was added gene: TPRKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828; 30053862 Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731 Review for gene: TPRKB was set to GREEN Added comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.14 | TP53RK |
Zornitza Stark gene: TP53RK was added gene: TP53RK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP53RK were set to 28805828; 30053862 Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730 Review for gene: TP53RK was set to GREEN Added comment: At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.13 | TBC1D20 |
Zornitza Stark gene: TBC1D20 was added gene: TBC1D20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D20 were set to 24239381; 32740904; 32162791 Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, MIM# 615663; Martsolf syndrome Review for gene: TBC1D20 was set to GREEN Added comment: 7 unrelated families reported with autosomal recessive syndrome characterised by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. One of the families is described as Martsolf syndrome, the rest as Warburg micro. Sources: Expert list |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.12 | TMEM94 |
Zornitza Stark gene: TMEM94 was added gene: TMEM94 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to 30526868 Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Review for gene: TMEM94 was set to GREEN Added comment: 10 individuals from 6 unrelated families reported. Sources: Expert list |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.11 | PTPN23 |
Zornitza Stark gene: PTPN23 was added gene: PTPN23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Review for gene: PTPN23 was set to GREEN Added comment: Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Sources: Expert list |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.10 | PUS7 |
Zornitza Stark gene: PUS7 was added gene: PUS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS7 were set to 30526862; 30778726; 31583274 Phenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342 Review for gene: PUS7 was set to GREEN Added comment: 11 individuals from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. Sources: Expert list |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.7 | HPD | Teresa Zhao reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.7 | SEC23A | Zornitza Stark reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.6 | DARS | Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.4 | Zornitza Stark removed gene:SPNS1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.2 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease; New South Wales Health Pathology; PathWest | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.1 | ASCC1 | Zornitza Stark Phenotypes for gene: ASCC1 were changed from Barrett esophagus/esophageal adenocarcinoma, 614266 (3) to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ZMPSTE24 |
Zornitza Stark gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | YARS2 |
Zornitza Stark gene: YARS2 was added gene: YARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | XPNPEP3 |
Zornitza Stark gene: XPNPEP3 was added gene: XPNPEP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3) |
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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 | WNT7A |
Zornitza Stark gene: WNT7A was added gene: WNT7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WNK1 |
Zornitza Stark gene: WNK1 was added gene: WNK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WDR60 |
Zornitza Stark gene: WDR60 was added gene: WDR60 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WDR45B |
Zornitza Stark gene: WDR45B was added gene: WDR45B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WDR35 |
Zornitza Stark gene: WDR35 was added gene: WDR35 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WDR34 |
Zornitza Stark gene: WDR34 was added gene: WDR34 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WARS2 |
Zornitza Stark gene: WARS2 was added gene: WARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VSX2 |
Zornitza Stark gene: VSX2 was added gene: VSX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VPS13A |
Zornitza Stark gene: VPS13A was added gene: VPS13A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VMA21 |
Zornitza Stark gene: VMA21 was added gene: VMA21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VARS |
Zornitza Stark gene: VARS was added gene: VARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | USB1 |
Zornitza Stark gene: USB1 was added gene: USB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UNC80 |
Zornitza Stark gene: UNC80 was added gene: UNC80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive |
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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 | TUBGCP6 |
Zornitza Stark gene: TUBGCP6 was added gene: TUBGCP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TUBGCP4 |
Zornitza Stark gene: TUBGCP4 was added gene: TUBGCP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TTPA |
Zornitza Stark gene: TTPA was added gene: TTPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TTC21B |
Zornitza Stark gene: TTC21B was added gene: TTC21B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TSPYL1 |
Zornitza Stark gene: TSPYL1 was added gene: TSPYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TRDN |
Zornitza Stark gene: TRDN was added gene: TRDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TPM3 |
Zornitza Stark gene: TPM3 was added gene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TPK1 |
Zornitza Stark gene: TPK1 was added gene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TNNT1 |
Zornitza Stark gene: TNNT1 was added gene: TNNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TK2 |
Zornitza Stark gene: TK2 was added gene: TK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | THOC2 |
Zornitza Stark gene: THOC2 was added gene: THOC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TGM1 |
Zornitza Stark gene: TGM1 was added gene: TGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TBCK |
Zornitza Stark gene: TBCK was added gene: TBCK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TBCD |
Zornitza Stark gene: TBCD was added gene: TBCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (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 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TANGO2 |
Zornitza Stark gene: TANGO2 was added gene: TANGO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
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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 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SQSTM1 |
Zornitza Stark gene: SQSTM1 was added gene: SQSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SPINK5 |
Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SNORD118 |
Zornitza Stark gene: SNORD118 was added gene: SNORD118 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC5A7 |
Zornitza Stark gene: SLC5A7 was added gene: SLC5A7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC39A14 |
Zornitza Stark gene: SLC39A14 was added gene: SLC39A14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC38A8 |
Zornitza Stark gene: SLC38A8 was added gene: SLC38A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC35A3 |
Zornitza Stark gene: SLC35A3 was added gene: SLC35A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC30A10 |
Zornitza Stark gene: SLC30A10 was added gene: SLC30A10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC29A3 |
Zornitza Stark gene: SLC29A3 was added gene: SLC29A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC25A46 |
Zornitza Stark gene: SLC25A46 was added gene: SLC25A46 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (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 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC1A4 |
Zornitza Stark gene: SLC1A4 was added gene: SLC1A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (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 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (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 | SH3TC2 |
Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SGO1 |
Zornitza Stark gene: SGO1 was added gene: SGO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SERAC1 |
Zornitza Stark gene: SERAC1 was added gene: SERAC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SEC23B |
Zornitza Stark gene: SEC23B was added gene: SEC23B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) |
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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 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SBF2 |
Zornitza Stark gene: SBF2 was added gene: SBF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TMEM5 |
Zornitza Stark gene: TMEM5 was added gene: TMEM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RTTN |
Zornitza Stark gene: RTTN was added gene: RTTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RTN4IP1 |
Zornitza Stark gene: RTN4IP1 was added gene: RTN4IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RRM2B |
Zornitza Stark gene: RRM2B was added gene: RRM2B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ROBO3 |
Zornitza Stark gene: ROBO3 was added gene: ROBO3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RNASET2 |
Zornitza Stark gene: RNASET2 was added gene: RNASET2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RIPK4 |
Zornitza Stark gene: RIPK4 was added gene: RIPK4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RETREG1 |
Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RCBTB1 |
Zornitza Stark gene: RCBTB1 was added gene: RCBTB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RBCK1 |
Zornitza Stark gene: RBCK1 was added gene: RBCK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RAX |
Zornitza Stark gene: RAX was added gene: RAX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RARB |
Zornitza Stark gene: RARB was added gene: RARB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RAB33B |
Zornitza Stark gene: RAB33B was added gene: RAB33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PYROXD1 |
Zornitza Stark gene: PYROXD1 was added gene: PYROXD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PXDN |
Zornitza Stark gene: PXDN was added gene: PXDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PUS1 |
Zornitza Stark gene: PUS1 was added gene: PUS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PRUNE1 |
Zornitza Stark gene: PRUNE1 was added gene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PROS1 |
Zornitza Stark gene: PROS1 was added gene: PROS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PRG4 |
Zornitza Stark gene: PRG4 was added gene: PRG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PRDM12 |
Zornitza Stark gene: PRDM12 was added gene: PRDM12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POR |
Zornitza Stark gene: POR was added gene: POR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMP |
Zornitza Stark gene: POMP was added gene: POMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMGNT2 |
Zornitza Stark gene: POMGNT2 was added gene: POMGNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | POLA1 |
Zornitza Stark gene: POLA1 was added gene: POLA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PLAA |
Zornitza Stark gene: PLAA was added gene: PLAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PLA2G6 |
Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIP5K1C |
Zornitza Stark gene: PIP5K1C was added gene: PIP5K1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIGV |
Zornitza Stark gene: PIGV was added gene: PIGV was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIGO |
Zornitza Stark gene: PIGO was added gene: PIGO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 614749 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 615716 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PGAP2 |
Zornitza Stark gene: PGAP2 was added gene: PGAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (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 | PAPSS2 |
Zornitza Stark gene: PAPSS2 was added gene: PAPSS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PANK2 |
Zornitza Stark gene: PANK2 was added gene: PANK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OTUD6B |
Zornitza Stark gene: OTUD6B was added gene: OTUD6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 311250 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OPHN1 |
Zornitza Stark gene: OPHN1 was added gene: OPHN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OPA3 |
Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OCLN |
Zornitza Stark gene: OCLN was added gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NKX6-2 |
Zornitza Stark gene: NKX6-2 was added gene: NKX6-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NIPAL4 |
Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NGF |
Zornitza Stark gene: NGF was added gene: NGF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NEB |
Zornitza Stark gene: NEB was added gene: NEB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDRG1 |
Zornitza Stark gene: NDRG1 was added gene: NDRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDE1 |
Zornitza Stark gene: NDE1 was added gene: NDE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NAXE |
Zornitza Stark gene: NAXE was added gene: NAXE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NALCN |
Zornitza Stark gene: NALCN was added gene: NALCN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MUSK |
Zornitza Stark gene: MUSK was added gene: MUSK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTMR2 |
Zornitza Stark gene: MTMR2 was added gene: MTMR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 310400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MTHFD1 |
Zornitza Stark gene: MTHFD1 was added gene: MTHFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MPLKIP |
Zornitza Stark gene: MPLKIP was added gene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MPL |
Zornitza Stark gene: MPL was added gene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMP2 |
Zornitza Stark gene: MMP2 was added gene: MMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 277400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MICU1 |
Zornitza Stark gene: MICU1 was added gene: MICU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MFN2 |
Zornitza Stark gene: MFN2 was added gene: MFN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MEGF10 |
Zornitza Stark gene: MEGF10 was added gene: MEGF10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MED17 |
Zornitza Stark gene: MED17 was added gene: MED17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 613668 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MCM4 |
Zornitza Stark gene: MCM4 was added gene: MCM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MC2R |
Zornitza Stark gene: MC2R was added gene: MC2R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MAPKBP1 |
Zornitza Stark gene: MAPKBP1 was added gene: MAPKBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LTBP3 |
Zornitza Stark gene: LTBP3 was added gene: LTBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LRSAM1 |
Zornitza Stark gene: LRSAM1 was added gene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LMOD3 |
Zornitza Stark gene: LMOD3 was added gene: LMOD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LIAS |
Zornitza Stark gene: LIAS was added gene: LIAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LGI4 |
Zornitza Stark gene: LGI4 was added gene: LGI4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 A, 6, 613154 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KY |
Zornitza Stark gene: KY was added gene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KLHL41 |
Zornitza Stark gene: KLHL41 was added gene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KLHL40 |
Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 615348 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KIAA0586 |
Zornitza Stark gene: KIAA0586 was added gene: KIAA0586 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive |
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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 | KATNB1 |
Zornitza Stark gene: KATNB1 was added gene: KATNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 613730 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ITGA6 |
Zornitza Stark gene: ITGA6 was added gene: ITGA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ITCH |
Zornitza Stark gene: ITCH was added gene: ITCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | INVS |
Zornitza Stark gene: INVS was added gene: INVS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 617404 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IGFBP7 |
Zornitza Stark gene: IGFBP7 was added gene: IGFBP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 614224 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IGF1R |
Zornitza Stark gene: IGF1R was added gene: IGF1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IFT80 |
Zornitza Stark gene: IFT80 was added gene: IFT80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IFT140 |
Zornitza Stark gene: IFT140 was added gene: IFT140 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IARS2 |
Zornitza Stark gene: IARS2 was added gene: IARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HYLS1 |
Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HTRA2 |
Zornitza Stark gene: HTRA2 was added gene: HTRA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 607765 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPGD |
Zornitza Stark gene: HPGD was added gene: HPGD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HMGCS2 |
Zornitza Stark gene: HMGCS2 was added gene: HMGCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HK1 |
Zornitza Stark gene: HK1 was added gene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HINT1 |
Zornitza Stark gene: HINT1 was added gene: HINT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 137200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HEPACAM |
Zornitza Stark gene: HEPACAM was added gene: HEPACAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HBB |
Zornitza Stark gene: HBB was added gene: HBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HACE1 |
Zornitza Stark gene: HACE1 was added gene: HACE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GUCY1A3 |
Zornitza Stark gene: GUCY1A3 was added gene: GUCY1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPAA1 |
Zornitza Stark gene: GPAA1 was added gene: GPAA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GNB5 |
Zornitza Stark gene: GNB5 was added gene: GNB5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GMPPB |
Zornitza Stark gene: GMPPB was added gene: GMPPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 610199 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GLE1 |
Zornitza Stark gene: GLE1 was added gene: GLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 611890 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GLDN |
Zornitza Stark gene: GLDN was added gene: GLDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GLDC |
Zornitza Stark gene: GLDC was added gene: GLDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GFPT1 |
Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GDAP1 |
Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FTO |
Zornitza Stark gene: FTO was added gene: FTO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (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 | FREM1 |
Zornitza Stark gene: FREM1 was added gene: FREM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FOXP3 |
Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FLVCR2 |
Zornitza Stark gene: FLVCR2 was added gene: FLVCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 225790 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FLVCR1 |
Zornitza Stark gene: FLVCR1 was added gene: FLVCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 609033 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FKBP14 |
Zornitza Stark gene: FKBP14 was added gene: FKBP14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 614557 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FGD4 |
Zornitza Stark gene: FGD4 was added gene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FBXL4 |
Zornitza Stark gene: FBXL4 was added gene: FBXL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | F2 |
Zornitza Stark gene: F2 was added gene: F2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EXTL3 |
Zornitza Stark gene: EXTL3 was added gene: EXTL3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ERBB3 |
Zornitza Stark gene: ERBB3 was added gene: ERBB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (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 | EIF2B5 |
Zornitza Stark gene: EIF2B5 was added gene: EIF2B5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EIF2B4 |
Zornitza Stark gene: EIF2B4 was added gene: EIF2B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EIF2B3 |
Zornitza Stark gene: EIF2B3 was added gene: EIF2B3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EIF2B2 |
Zornitza Stark gene: EIF2B2 was added gene: EIF2B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ECEL1 |
Zornitza Stark gene: ECEL1 was added gene: ECEL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DYNC2LI1 |
Zornitza Stark gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DYNC2H1 |
Zornitza Stark gene: DYNC2H1 was added gene: DYNC2H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DPH1 |
Zornitza Stark gene: DPH1 was added gene: DPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAJC19 |
Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAI2 |
Zornitza Stark gene: DNAI2 was added gene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAI1 |
Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAH5 |
Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DNAH11 |
Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DGAT1 |
Zornitza Stark gene: DGAT1 was added gene: DGAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type |
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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 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DCDC2 |
Zornitza Stark gene: DCDC2 was added gene: DCDC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DARS |
Zornitza Stark gene: DARS was added gene: DARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYP7B1 |
Zornitza Stark gene: CYP7B1 was added gene: CYP7B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYB5R3 |
Zornitza Stark gene: CYB5R3 was added gene: CYB5R3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CWC27 |
Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CTNS |
Zornitza Stark gene: CTNS was added gene: CTNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CRB2 |
Zornitza Stark gene: CRB2 was added gene: CRB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 219730 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | COX15 |
Zornitza Stark gene: COX15 was added gene: COX15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | COLQ |
Zornitza Stark gene: COLQ was added gene: COLQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 616286 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLPB |
Zornitza Stark gene: CLPB was added gene: CLPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 616271 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 248190 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLDN1 |
Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLCN2 |
Zornitza Stark gene: CLCN2 was added gene: CLCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHST3 |
Zornitza Stark gene: CHST3 was added gene: CHST3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 143095 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHRNA1 |
Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 253290 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHAT |
Zornitza Stark gene: CHAT was added gene: CHAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFL2 |
Zornitza Stark gene: CFL2 was added gene: CFL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | C21orf2 |
Zornitza Stark gene: C21orf2 was added gene: C21orf2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CERS3 |
Zornitza Stark gene: CERS3 was added gene: CERS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CEP120 |
Zornitza Stark gene: CEP120 was added gene: CEP120 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CD55 |
Zornitza Stark gene: CD55 was added gene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CD40 |
Zornitza Stark gene: CD40 was added gene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WISP3 |
Zornitza Stark gene: WISP3 was added gene: WISP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | C19orf12 |
Zornitza Stark gene: C19orf12 was added gene: C19orf12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BRAT1 |
Zornitza Stark gene: BRAT1 was added gene: BRAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BIN1 |
Zornitza Stark gene: BIN1 was added gene: BIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | B3GALT6 |
Zornitza Stark gene: B3GALT6 was added gene: B3GALT6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | B3GALNT2 |
Zornitza Stark gene: B3GALNT2 was added gene: B3GALNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 615181 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ATP6V1B1 |
Zornitza Stark gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ASNS |
Zornitza Stark gene: ASNS was added gene: ASNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ARX |
Zornitza Stark gene: ARX was added gene: ARX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 Hydranencephaly with abnormal genitalia, 300215 (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 | 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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| 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 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (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 | ANKS6 |
Zornitza Stark gene: ANKS6 was added gene: ANKS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AMT |
Zornitza Stark gene: AMT was added gene: AMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG2 |
Zornitza Stark gene: ALG2 was added gene: ALG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDH1A3 |
Zornitza Stark gene: ALDH1A3 was added gene: ALDH1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 235555 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACSF3 |
Zornitza Stark gene: ACSF3 was added gene: ACSF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, 614265 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCB7 |
Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 301310 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) |
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