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LAMA1

laminin subunit alpha 1
OMIM: 150320, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green LAMA1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.30 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green LAMA1 in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.13 Latest signed off version: v4.12 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Poretti-Boltshauser syndrome, OMIM:615960
Green LAMA1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green LAMA1 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960 AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green LAMA1 in Intellectual disability Level 2: Developmental disorders Version 11.23 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green LAMA1 in Retinal disorders Level 2: Ophthalmology Version 9.19 Latest signed off version: v9.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Poretti-Boltshauser syndrome, OMIM:615960
Green LAMA1 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green LAMA1 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 6.2 Latest signed off version: v6.1 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green LAMA1 in Neurological ciliopathies Level 2: Neurology Version 7.2 Latest signed off version: v7.1 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419