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| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Marked gene: PGAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Classified gene: PGAP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.216 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 28390064; 37010288 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 Review for gene: PGAP3 was set to GREEN Added comment: PMID:28390064 - 10 individuals from eight families presented with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Nine individuals from seven families were homozygous for the same variant (c.402dupC/ p.M135Hfs*28), while one had a different homozygous variant ( c.817_820delGACT/ p.D273Sfs*37). Of nine individuals with p.M135Hfs*28 variant, eight from seven families (except one of the two patients from family 7) had cleft palate. But, the only patient with the different variant did not have cleft palate. DECIPHER database - Of seven individuals reported with biallelic sequence variants, three with homozygous variants were reported with cleft palate and two with compound heterozygous variants were reported with cleft soft palate (PMID:37010288). Sources: Expert Review |
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