YIPF5

Yip1 domain family member 5
OMIM: 611483, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green YIPF5 in Neonatal diabetes


Level 2: Endocrinology
Version 5.19
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Green YIPF5 in Severe microcephaly


Level 2: Neurology
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Red YIPF5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Green YIPF5 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.147
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
    Green YIPF5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278