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Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.19 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert list