Activity
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9 actions
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| Skeletal dysplasia v0.32 | COG4 | Zornitza Stark Marked gene: COG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.32 | COG4 | Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.32 | COG4 | Zornitza Stark Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 to Saul-Wilson syndrome, OMIM #618150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.31 | COG4 | Zornitza Stark Mode of inheritance for gene: COG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.31 | COG4 | Zornitza Stark Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.30 | COG4 | Chirag Patel Classified gene: COG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.30 | COG4 | Chirag Patel Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.29 | COG4 |
Chirag Patel changed review comment from: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg) Congenital disorder of glycosylation, type IIj (AR) Sources: Literature; to: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal dysplasia changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg) Congenital disorder of glycosylation, type IIj (AR) Sources: Literature |
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| Skeletal dysplasia v0.29 | COG4 |
Chirag Patel gene: COG4 was added gene: COG4 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: COG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG4 were set to PMID: 31949312; 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489 Review for gene: COG4 was set to GREEN Added comment: Saul-Wilson syndrome (AD) 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg) Congenital disorder of glycosylation, type IIj (AR) Sources: Literature |
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