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BabyScreen+ newborn screening

Gene: ABAT

Red List (low evidence)

ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 12 panels

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History Filter Activity

18 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABAT was added gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABAT were set to GABA-transaminase deficiency