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| Mackenzie's Mission_Reproductive Carrier Screening v0.23 | ISCA1 |
Zornitza Stark gene: ISCA1 was added gene: ISCA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.21 | GTPBP2 |
Zornitza Stark gene: GTPBP2 was added gene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988 Review for gene: GTPBP2 was set to GREEN Added comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. Sources: Expert Review |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | XRCC4 |
Zornitza Stark gene: XRCC4 was added gene: XRCC4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | TPK1 |
Zornitza Stark gene: TPK1 was added gene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710 |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | SFTPB |
Zornitza Stark gene: SFTPB was added gene: SFTPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | NFU1 |
Zornitza Stark gene: NFU1 was added gene: NFU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | ISCA2 |
Zornitza Stark gene: ISCA2 was added gene: ISCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | IBA57 |
Zornitza Stark gene: IBA57 was added gene: IBA57 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | DYSF |
Zornitza Stark gene: DYSF was added gene: DYSF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3) |
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| Mackenzie's Mission_Reproductive Carrier Screening v0.0 | BOLA3 |
Zornitza Stark gene: BOLA3 was added gene: BOLA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (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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