| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Polymicrogyria and Schizencephaly v0.170 | HSD17B4 | Zornitza Stark Marked gene: HSD17B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.170 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.170 | HSD17B4 | Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 to D-bifunctional protein deficiency - MIM#261515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.169 | HSD17B4 | Zornitza Stark Classified gene: HSD17B4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.169 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.168 | HSD17B4 |
Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319) Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319) Sources: Literature |
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| Polymicrogyria and Schizencephaly v0.168 | HSD17B4 |
Krithika Murali changed review comment from: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Polymicrogyria has been reported with DBP deficiency (PMID 32904102) Sources: Literature; to: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Polymicrogyria has been reported with DBP deficiency (PMID 32904102 and 2921319) Sources: Literature |
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| Polymicrogyria and Schizencephaly v0.168 | HSD17B4 |
Krithika Murali gene: HSD17B4 was added gene: HSD17B4 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 27790638; 32904102 Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency - #261515; Perrault syndrome 1 - #233400 Review for gene: HSD17B4 was set to GREEN Added comment: Associated with DBP deficiency - severe phenotype characterized by infantile-onset of hypotonia, seizures, dysmorphic features and most die before age 2 years. Less severe presentations have been termed type IV deficiency or Perrault syndrome. Polymicrogyria has been reported with DBP deficiency (PMID 32904102) Sources: Literature |
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