ZRSR2

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
OMIM: 300028, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber ZRSR2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132

Green ZRSR2 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132

Green ZRSR2 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Orofaciodigital syndrome XXI, MIM# 301132

Green ZRSR2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XXI, MIM# 301132

    Green ZRSR2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XXI, MIM# 301132

    Green ZRSR2 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.35

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XXI, MIM# 301132

    Green ZRSR2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XXI, MIM# 301132

    Green ZRSR2 in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XXI, MIM# 301132