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| Skeletal Dysplasia_Fetal v0.242 | GNPTAB | Lucy Spencer Phenotypes for gene: GNPTAB were changed from GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.241 | GNPTAB | Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta - MIM#252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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