MID1

midline 1
OMIM: 300552, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MID1 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Opitz GBBB syndrome, type I, MIM# 300000

Red MID1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Opitz GBBB syndrome, type I 300000

Green MID1 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Opitz GBBB syndrome, type I (MIM#300000)

Green MID1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MID1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • X-linked Opitz G/BBB syndrome MONDO:0010222

Green MID1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome, type I, 300000 (3)

Green MID1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • OPITZ GBBB SYNDROME, TYPE I
  • GBBB1

Green MID1 in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Red
  • Expert list
Phenotypes
  • Opitz GBBB syndrome, type I (MIM#300000)

Green MID1 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome, type I, 300000 (3)

Green MID1 in Prepair 500+


Level 2: Screening
Version 1.1

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Opitz GBBB syndrome, type I, 300000 (3)