Fetal hydropsGene: LZTR1
Comment on mode of inheritance: Mode of inheritance changed from monoallelic to 'both' monoallelic and biallelic due to the new publication PMID: 29469822 and reviewer's comment on the RASopathies gene panel version 1.18. Confirmed with the Genomics England clinical team before making this change.
Created: 4 Apr 2018, 1 p.m.
Publications for LZTR1 were set to 25795793; 29469822
Mode of inheritance for LZTR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
LZTR1 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
LZTR1 was created by rfoulger
LZTR1 was added to Fetal hydropspanel. Sources: Expert Review Green