FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Amber FIG4 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Polymicrogyria with epilepsy MIM# 612691
Red FIG4 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.50 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services
Amber FIG4 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945 MIM#612577)
Green FIG4 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yunis-Varon syndrome - MIM#216340
No list FIG4 in Incidentalome Version 0.360	3 reviews	Unknown	Sources Expert Review Removed Victorian Clinical Genetics Services Tags review
Green FIG4 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Yunis-Varon syndrome - MIM#216340 Polymicrogyria with epilepsy MIM# 612691 Charcot-Marie-Tooth disease, type 4J 611228 Amyotrophic lateral sclerosis 11, MIM# 612577
Green FIG4 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Yunis-Varon syndrome, MIM# 216340
Red FIG4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Polymicrogyria, bilateral temporooccipital, MIM#612691
Green FIG4 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FIG4 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 Green Genetic Health Queensland Phenotypes Charcot-Marie-Tooth disease MONDO:0015626
Green FIG4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Phenotypes Yunis-Varon syndrome 216340 Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577
Green FIG4 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy
Green FIG4 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, type 4J, MIM# 611228 MONDO:0012640 HMSN
Green FIG4 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 Yunis-Varon syndrome, 216340 (3)
Green FIG4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.78 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577
Green FIG4 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Yunis-Varon syndrome, OMIM:216340 Yunis-Varon syndrome, MONDO:0008995 ?Polymicrogyria, bilateral temporooccipital, OMIM:612691 Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
Green FIG4 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Yunis-Varon syndrome, MIM#216340