| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 | AQP2 |
Zornitza Stark gene: AQP2 was added gene: AQP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (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 | AP4S1 |
Zornitza Stark gene: AP4S1 was added gene: AP4S1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (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 | AP1S2 |
Zornitza Stark gene: AP1S2 was added gene: AP1S2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ANTXR2 |
Zornitza Stark gene: ANTXR2 was added gene: ANTXR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ANTXR1 |
Zornitza Stark gene: ANTXR1 was added gene: ANTXR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3) |
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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 | AMPD2 |
Zornitza Stark gene: AMPD2 was added gene: AMPD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (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 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG6 |
Zornitza Stark gene: ALG6 was added gene: ALG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG3 |
Zornitza Stark gene: ALG3 was added gene: ALG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (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 | ALG12 |
Zornitza Stark gene: ALG12 was added gene: ALG12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG11 |
Zornitza Stark gene: ALG11 was added gene: ALG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALG1 |
Zornitza Stark gene: ALG1 was added gene: ALG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDOB |
Zornitza Stark gene: ALDOB was added gene: ALDOB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDH7A1 |
Zornitza Stark gene: ALDH7A1 was added gene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (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 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ALAD |
Zornitza Stark gene: ALAD was added gene: ALAD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (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 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AIPL1 |
Zornitza Stark gene: AIPL1 was added gene: AIPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AIMP1 |
Zornitza Stark gene: AIMP1 was added gene: AIMP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AHI1 |
Zornitza Stark gene: AHI1 was added gene: AHI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGXT |
Zornitza Stark gene: AGXT was added gene: AGXT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGT |
Zornitza Stark gene: AGT was added gene: AGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (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 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGL |
Zornitza Stark gene: AGL was added gene: AGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGK |
Zornitza Stark gene: AGK was added gene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGBL5 |
Zornitza Stark gene: AGBL5 was added gene: AGBL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADSL |
Zornitza Stark gene: ADSL was added gene: ADSL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADGRV1 |
Zornitza Stark gene: ADGRV1 was added gene: ADGRV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADGRG1 |
Zornitza Stark gene: ADGRG1 was added gene: ADGRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADAT3 |
Zornitza Stark gene: ADAT3 was added gene: ADAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADAR |
Zornitza Stark gene: ADAR was added gene: ADAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADAMTS2 |
Zornitza Stark gene: ADAMTS2 was added gene: ADAMTS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (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 | ADA2 |
Zornitza Stark gene: ADA2 was added gene: ADA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (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 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACO2 |
Zornitza Stark gene: ACO2 was added gene: ACO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACE |
Zornitza Stark gene: ACE was added gene: ACE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (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 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABHD5 |
Zornitza Stark gene: ABHD5 was added gene: ABHD5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCC8 |
Zornitza Stark gene: ABCC8 was added gene: ABCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (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 | ABCB4 |
Zornitza Stark gene: ABCB4 was added gene: ABCB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCA4 |
Zornitza Stark gene: ABCA4 was added gene: ABCA4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABCA3 |
Zornitza Stark gene: ABCA3 was added gene: ABCA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (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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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ABAT |
Zornitza Stark gene: ABAT was added gene: ABAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AARS2 |
Zornitza Stark gene: AARS2 was added gene: AARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | Zornitza Stark Added panel Mackenzie's Mission_Reproductive Carrier Screening | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||