SLC33A1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SLC33A1 in Cataract Level 2: Ophthalmological disorders Version 0.396	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 1.3795	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 0.600	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 1.304	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 1.507	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 Level 2: Neurology and neurodevelopmental disorders Version 1.129 Component of the following Super Panels: 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 0.111	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 0.52 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 1.482	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 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM#614482
Red SLC33A1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	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