MED25

mediator complex subunit 25
OMIM: 610197, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber MED25 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449
Green MED25 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Green MED25 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags founder
Red MED25 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Tags disputed
Green MED25 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Green MED25 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Amber MED25 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME BVSYS
Green MED25 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies congenital heart defects hypospadias, thin corpus callosum, cerebral ventricular dilatation Basel-Vanagait-Smirin-Yosef syndrome - #616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643
Green MED25 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Red MED25 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449