FRMD7

FERM domain containing 7
OMIM: 300628, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green FRMD7 in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.10	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 UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes (not relevant if inheritance through paternal line) Nystagmus 1, congenital, X-linked, 310700 Nystagmus, infantile periodic alternating, X-linked, 310700 Infantile Nystagmus Nystagmus 1, Congenital, X-Linked
Green FRMD7 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	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 Nystagmus 1, Congenital, X-Linked Infantile Nystagmus Nystagmus, infantile periodic alternating, X-linked, 310700 Nystagmus 1, congenital, X-linked, 310700 (not relevant if inheritance through paternal line)
Red FRMD7 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED
Red FRMD7 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red DD-Gene2Phenotype Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED 310700
Red FRMD7 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Red Phenotypes Nystagmus 1, congenital, X-linked 310700 Nystagmus, infantile periodic alternating, X-linked 310700
Amber FRMD7 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Nystagmus 1, congenital, X-linked, OMIM:310700 Nystagmus, infantile periodic alternating, X-linked, OMIM:310700 foveal hypoplasia, MONDO:0044203
Green FRMD7 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Nystagmus 1, congenital, X-linked, 310700 Nystagmus, infantile periodic alternating, X-linked, 310700