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Prepair 1000+ v1.463 ASL Lilian Downie Marked gene: ASL as ready
Prepair 1000+ v1.463 ASL Lilian Downie Gene: asl has been classified as Green List (High Evidence).
Prepair 1000+ v1.463 ASL Lilian Downie Publications for gene: ASL were set to
Prepair 1000+ v1.420 ASL Andrew Coventry edited their review of gene: ASL: Added comment: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry Deleted their comment
Prepair 1000+ v1.420 ASL Andrew Coventry changed review comment from: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; to: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association
Prepair 1000+ v1.420 ASL Andrew Coventry reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 2263616 12384776; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: None
Prepair 1000+ v1.3 ASL Seb Lunke Added phenotypes Argininosuccinic aciduria, 207900 (3) for gene: ASL
Prepair 1000+ v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)