FRMD7

FERM domain containing 7
OMIM: 300628, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green FRMD7 in Infantile nystagmus Level 3: Ocular movement disorders Level 2: Ophthalmological disorders Version 1.11	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 Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED
Green FRMD7 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED 310700
Red FRMD7 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	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 Tags Q3_25_promote_green Q3_25_expert_review