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Prepair 1000+ v1.1353 | IARS | Zornitza Stark Marked gene: IARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1353 | IARS | Zornitza Stark Gene: iars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1353 | IARS | Zornitza Stark Phenotypes for gene: IARS were changed from Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.1348 | IARS | Crystle Lee reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.688 | IARS2 | Zornitza Stark Marked gene: IARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.688 | IARS2 | Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.688 | IARS2 | Zornitza Stark Phenotypes for gene: IARS2 were changed from ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.687 | IARS2 | Zornitza Stark Publications for gene: IARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v1.633 | IARS2 | Crystle Lee reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30419932; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | IARS2 |
Zornitza Stark gene: IARS2 was added gene: IARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
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Prepair 1000+ v0.0 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive |