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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Malformations of Cortical Development (D054220)
..Starting node ..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Child Nodes:
Sister Nodes:
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..CK SYNDROME (OMIM:300831)
..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..Curatolo Cilio Pessagno syndrome (C536701)
..Familial schizencephaly (C538514)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Malformations of Cortical Development, Group I (D065703) 172
..Malformations of Cortical Development, Group II (D054081) 35
..Malformations of Cortical Development, Group III (D065704) 4
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Muller Barth Menger syndrome (C537370)
..Non-lissencephalic cortical dysplasia (C536243)
..Perisylvian syndrome (C536658)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
..Polymicrogyria, Asymmetric (C567658)
..Polymicrogyria, Bilateral Frontoparietal (C564652)
..Polymicrogyria, Bilateral Occipital (C567201)
..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9094

Name:

POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC

Definition:

Alternative IDs:

ParentIDs:

MESH:D054220

TreeNumbers:

C10.500.507/610031 |C16.131.666.507/610031

Synonyms:

PMGYSA

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: 610031
MeSH: 610031
OMIM: 610031;

Genes: TUBB2B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000478	Abnormality of the eye
4	HP:0001274	Agenesis of corpus callosum
5	HP:0001321	Cerebellar hypoplasia
6	HP:0001491	Congenital fibrosis of extraocular muscles	HP:0040283
7	HP:0002307	Drooling
8	HP:0006930	Frontoparietal cortical dysplasia
9	HP:0001263	Global developmental delay
10	HP:0001269	Hemiparesis
11	HP:0002079	Hypoplasia of the corpus callosum
12	HP:0001249	Intellectual disability
13	HP:0007941	Limited extraocular movements	HP:0040283
14	HP:0000252	Microcephaly
15	HP:0001270	Motor delay
16	HP:0001302	Pachygyria
17	HP:0001250	Seizure
18	HP:0001328	Specific learning disability
19	HP:0006927	Unilateral polymicrogyria
20	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_178012.4(TUBB2B):c.1261G>A (p.Glu421Lys)	347733	TUBB2B	Pathogenic	398122369	RCV000074466;	N	MedGen:C2750247,OMIM:610031	6	3225062	3225062	NM_178012.4:c.1261G>A	NP_821080.1:p.Glu421Lys	NC_000006.11:g.3225062C>T	OMIM Allelic Variant:612850.0007	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.1249G>A (p.Asp417Asn)	347733	TUBB2B	Pathogenic	397514567	RCV000032932;	N	MedGen:C2750247,OMIM:610031	6	3225074	3225074	NM_178012.4:c.1249G>A	NP_821080.1:p.Asp417Asn	NC_000006.11:g.3225074C>T	OMIM Allelic Variant:612850.0004	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.1248C>T (p.Asn416=)	347733	TUBB2B	Uncertain significance	17145779	RCV000147834;	N	MedGen:C2750247,OMIM:610031	6	3225075	3225075	NM_178012.4:c.1248C>T	NP_821080.1:p.Asn416=	NC_000006.11:g.3225075G>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.1139G>T (p.Arg380Leu)	347733	TUBB2B	Likely pathogenic	587784498	RCV000147833;	N	MedGen:C2750247,OMIM:610031	6	3225184	3225184	NM_178012.4:c.1139G>T	NP_821080.1:p.Arg380Leu	NC_000006.11:g.3225184C>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.965C>T (p.Ser322Phe)	347733	TUBB2B	Likely pathogenic	587784502	RCV000147845;	N	MedGen:C2750247,OMIM:610031	6	3225358	3225358	NM_178012.4:c.965C>T	NP_821080.1:p.Ser322Phe	NC_000006.11:g.3225358G>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.859C>T (p.Pro287Ser)	347733	TUBB2B	Uncertain significance	587784501	RCV000147844;	N	MedGen:C2750247,OMIM:610031	6	3225464	3225464	NM_178012.4:c.859C>T	NP_821080.1:p.Pro287Ser	NC_000006.11:g.3225464G>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.793T>C (p.Phe265Leu)	347733	TUBB2B	Pathogenic	137853196	RCV000000456;	N	MedGen:C2750247,OMIM:610031	6	3225530	3225530	NM_178012.4:c.793T>C	NP_821080.1:p.Phe265Leu	NC_000006.11:g.3225530A>G	OMIM Allelic Variant:612850.0003	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.767A>G (p.Asn256Ser)	347733	TUBB2B	Pathogenic	397514568	RCV000032933;	N	MedGen:C2750247,OMIM:610031	6	3225556	3225556	NM_178012.4:c.767A>G	NP_821080.1:p.Asn256Ser	NC_000006.11:g.3225556T>C	OMIM Allelic Variant:612850.0005	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.683T>C (p.Leu228Pro)	347733	TUBB2B	Pathogenic	137853195	RCV000000455;	N	MedGen:C2750247,OMIM:610031	6	3225640	3225640	NM_178012.4:c.683T>C	NP_821080.1:p.Leu228Pro	NC_000006.11:g.3225640A>G	OMIM Allelic Variant:612850.0002	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.514T>C (p.Ser172Pro)	347733	TUBB2B	Pathogenic	137853194	RCV000000454;	N	MedGen:C2750247,OMIM:610031	6	3225809	3225809	NM_178012.4:c.514T>C	NP_821080.1:p.Ser172Pro	NC_000006.11:g.3225809A>G	OMIM Allelic Variant:612850.0001	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.498C>T (p.Thr166=)	347733	TUBB2B	Uncertain significance	587784499	RCV000147837;	N	MedGen:C2750247,OMIM:610031	6	3225825	3225825	NM_178012.4:c.498C>T	NP_821080.1:p.Thr166=	NC_000006.11:g.3225825G>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.350T>C (p.Leu117Pro)	347733	TUBB2B	Pathogenic	397514569	RCV000032934;	N	MedGen:C2750247,OMIM:610031	6	3225973	3225973	NM_178012.4:c.350T>C	NP_821080.1:p.Leu117Pro	NC_000006.11:g.3225973A>G	OMIM Allelic Variant:612850.0006	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.292G>A (p.Gly98Arg)	347733	TUBB2B	Likely pathogenic	797046075	RCV000192694;	N	MedGen:C2750247,OMIM:610031	6	3226031	3226031	NM_178012.4:c.292G>A	NP_821080.1:p.Gly98Arg	NC_000006.11:g.3226031C>T	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.126G>T (p.Leu42Phe)	347733	TUBB2B	Uncertain significance	76191712	RCV000147835;	N	MedGen:C2750247,OMIM:610031	6	3226835	3226835	NM_178012.4:c.126G>T	NP_821080.1:p.Leu42Phe	NC_000006.11:g.3226835C>A	-	C2750247 610031 Polymicrogyria, asymmetric
NM_178012.4(TUBB2B):c.111T>C (p.His37=)	347733	TUBB2B	Uncertain significance	11550264	RCV000147832;	N	MedGen:C2750247,OMIM:610031	6	3226850	3226850	NM_178012.4:c.111T>C	NP_821080.1:p.His37=	NC_000006.11:g.3226850A>G	-	C2750247 610031 Polymicrogyria, asymmetric