MED25

mediator complex subunit 25
OMIM: 610197, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red MED25 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GDL Corneal Abnormalities panel Phenotypes Basel-Vanagait-Smirin-Yosef syndrome 616449 Tags founder-effect
Green MED25 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449
Red MED25 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Red Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot Marie Tooth disease, type 2B2, 605589 Charcot Marie Tooth disease, type 2B2, 605589
Green MED25 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.108 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449 Tags founder-effect
Green MED25 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 BVSYS Syndromic intellectual disability Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Tags founder-effect
Red MED25 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Red UKGTN Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services NHS GMS NHS GMS South West GLH Phenotypes Charcot Marie Tooth disease, type 2B2, 605589