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| 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 v0.103 | 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 | MUT | Zornitza Stark Tag new gene name tag was added to gene: MUT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mackenzie's Mission_Reproductive Carrier Screening v0.102 | MUT | Zornitza Stark commented on gene: MUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.82 | EDA | Seb Lunke Mode of inheritance for gene: EDA was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.48 | 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 v0.47 | 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 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 | 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 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 v0.32 | 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 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 | 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 v0.31 | 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 v0.28 | 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 v0.10 | 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 v0.0 | ZNF711 |
Zornitza Stark gene: ZNF711 was added gene: ZNF711 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ZDHHC9 |
Zornitza Stark gene: ZDHHC9 was added gene: ZDHHC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | XIAP |
Zornitza Stark gene: XIAP was added gene: XIAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | WAS |
Zornitza Stark gene: WAS was added gene: WAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (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 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UPF3B |
Zornitza Stark gene: UPF3B was added gene: UPF3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UBE2A |
Zornitza Stark gene: UBE2A was added gene: UBE2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | UBA1 |
Zornitza Stark gene: UBA1 was added gene: UBA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TSPAN7 |
Zornitza Stark gene: TSPAN7 was added gene: TSPAN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (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 | 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 | SYP |
Zornitza Stark gene: SYP was added gene: SYP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SSR4 |
Zornitza Stark gene: SSR4 was added gene: SSR4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SMS |
Zornitza Stark gene: SMS was added gene: SMS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RP2 |
Zornitza Stark gene: RP2 was added gene: RP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PQBP1 |
Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (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 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIH1D3 |
Zornitza Stark gene: PIH1D3 was added gene: PIH1D3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PHF8 |
Zornitza Stark gene: PHF8 was added gene: PHF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | PAK3 |
Zornitza Stark gene: PAK3 was added gene: PAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3) |
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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 | OPN1LW |
Zornitza Stark gene: OPN1LW was added gene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (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 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NYX |
Zornitza Stark gene: NYX was added gene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NR0B1 |
Zornitza Stark gene: NR0B1 was added gene: NR0B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NLGN4X |
Zornitza Stark gene: NLGN4X was added gene: NLGN4X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to Norrie disease, 310600 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (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 | 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 | MID1 |
Zornitza Stark gene: MID1 was added gene: MID1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (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 | 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 | MAOA |
Zornitza Stark gene: MAOA was added gene: MAOA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | KDM5C |
Zornitza Stark gene: KDM5C was added gene: KDM5C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IQSEC2 |
Zornitza Stark gene: IQSEC2 was added gene: IQSEC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IL2RG |
Zornitza Stark gene: IL2RG was added gene: IL2RG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IL1RAPL1 |
Zornitza Stark gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HUWE1 |
Zornitza Stark gene: HUWE1 was added gene: HUWE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (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 | GPR143 |
Zornitza Stark gene: GPR143 was added gene: GPR143 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease, 301500 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | GDI1 |
Zornitza Stark gene: GDI1 was added gene: GDI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FTSJ1 |
Zornitza Stark gene: FTSJ1 was added gene: FTSJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (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 | FMR1 |
Zornitza Stark gene: FMR1 was added gene: FMR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FMR1 were set to Fragile X syndrome |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | F9 |
Zornitza Stark gene: F9 was added gene: F9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | F8 |
Zornitza Stark gene: F8 was added gene: F8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EIF2S3 |
Zornitza Stark gene: EIF2S3 was added gene: EIF2S3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | EFNB1 |
Zornitza Stark gene: EFNB1 was added gene: EFNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DLG3 |
Zornitza Stark gene: DLG3 was added gene: DLG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DCX |
Zornitza Stark gene: DCX was added gene: DCX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CYBB |
Zornitza Stark gene: CYBB was added gene: CYBB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CUL4B |
Zornitza Stark gene: CUL4B was added gene: CUL4B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CLCN4 |
Zornitza Stark gene: CLCN4 was added gene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | CFP |
Zornitza Stark gene: CFP was added gene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3) |
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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 | 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 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BRWD3 |
Zornitza Stark gene: BRWD3 was added gene: BRWD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BGN |
Zornitza Stark gene: BGN was added gene: BGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive |
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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 | 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 | 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 | 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 | 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 | 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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