FAM126A

family with sequence similarity 126 member A
OMIM: 610531, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FAM126A in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.19 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags new-gene-name
Green FAM126A in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.8 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy hypomyelinating 5 Leukodystrophy hypomyelinating type 5 Tags new-gene-name
Green FAM126A in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags new-gene-name
Green FAM126A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 5 Tags new-gene-name
Green FAM126A in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 Tags new-gene-name
Green FAM126A in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.507	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Tags new-gene-name
Green FAM126A in Intellectual disability Level 2: Developmental disorders Version 9.343 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5) Tags new-gene-name
Red FAM126A in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532 Tags new-gene-name
Green FAM126A in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.44 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Leukodystrophy, hypomyelinating, 5, OMIM:610532 hypomyelinating leukodystrophy 5, MONDO:0012514 Tags new-gene-name