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Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Classified gene: GNPTAB as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 GNPTAB Krithika Murali gene: GNPTAB was added
gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 20301728
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500
Review for gene: GNPTAB was set to GREEN
Added comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies.
Sources: Literature