SLC33A1

solute carrier family 33 member 1
OMIM: 603690, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SLC33A1 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Green SLC33A1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Spastic paraplegia 42, autosomal dominant, MIM# 612539
Green SLC33A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Green SLC33A1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Green SLC33A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Red SLC33A1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 42, autosomal dominant Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
Red SLC33A1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Spastic paraplegia 42, autosomal dominant, MIM# 612539
Green SLC33A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Red SLC33A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital cataracts, hearing loss and low serum copper and ceruloplasmin Spastic paraplegia, autosomal dominant
Green SLC33A1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.45 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of copper metabolism Huppke-Brendel syndrome MONDO:0013772
Green SLC33A1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Green SLC33A1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Red SLC33A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic paraplegia, autosomal dominant Congenital cataracts, hearing loss and low serum copper and ceruloplasmin