ELP1

elongator complex protein 1
OMIM: 603722, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ELP1 in Mendeliome Version 1.3512	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Dysautonomia, familial MIM#223900 paediatric medulloblastoma neurodevelopmental disorder, MONDO:0700092, ELP1-related
Green ELP1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Paediatric medulloblastoma sonic hedgehog subtype
Red ELP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ELP1-related
Red ELP1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes neurodevelopmental disorder, MONDO:0700092, ELP1-related
Green ELP1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dysautonomia, familial, 223900 Riley-Day syndrome MONDO:0009131 Hereditary sensory and autonomic neuropathy 3 HSAN/SFN
Green ELP1 in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.36 Component of the following Super Panels: Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Familial dysautonomia NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III Dysautonomia, familial, 223900
Green ELP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysautonomia, familial, 223900 (3)
Green ELP1 in Medulloblastoma Level 2: Cancer Predisposition Version 1.1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Medulloblastoma, MONDO:0007959 Medulloblastoma predisposition syndrome, MIM#155255
Green ELP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dysautonomia, familial
Green ELP1 in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.51	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dysautonomia, familial, MIM# 223900 Riley-Day syndrome MONDO:0009131
Green ELP1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysautonomia, familial MIM#223900 Hereditary sensory and autonomic neuropathy type III (HSAN3)
Red ELP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Dysautonomia, familial MIM#223900 paediatric medulloblastoma
Green ELP1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysautonomia, familial MIM#223900