MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Diseases (C)
Parent Node: Pontocerebellar Hypoplasia (C580383)
..Starting node ..PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Child Nodes:
Sister Nodes:
..PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 8 (OMIM:614961)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10049

Name:

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C

Definition:

Alternative IDs:

ParentIDs:

MESH:C580383

TreeNumbers:

C10.228.140.252/C580383/616081

Synonyms:

HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA |PCH1C

Slim Mappings:

Nervous system disease

Reference:

MedGen: 616081
MeSH: 616081
OMIM: 616081;
MSeqDR :
Genes: EXOSC8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001320	Cerebellar vermis hypoplasia
3	HP:0002120	Cerebral cortical atrophy
4	HP:0001508	Failure to thrive
5	HP:0011968	Feeding difficulties
6	HP:0001371	Flexion contracture	HP:0040283
7	HP:0001263	Global developmental delay NAMDC: Mental retardation
8	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
9	HP:0000365	Hearing impairment
10	HP:0002079	Hypoplasia of the corpus callosum
11	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
12	HP:0002878	Respiratory failure
13	HP:0001285	Spastic tetraparesis
14	HP:0007269	Spinal muscular atrophy
15	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)	11340	EXOSC8	Pathogenic	606231285	RCV000144942;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37574947	37574947	NC_000013.10:g.37574947C>T	ClinGen:CA214513,UniProtKB:Q96B26#VAR_072558,OMIM:606019.0002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)	11340	EXOSC8	Conflicting interpretations of pathogenicity	200881798	RCV001328799\|RCV001526493\|RCV002546277;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254\|MedGen:CN169374\|MedGen:C3661900	13	37574955	37574955	37574955	-
NM_181503.3(EXOSC8):c.17+1G>T	11340	EXOSC8	Uncertain significance	1412754843	RCV001004884;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37574960	37574960	13:g.37574960G>T	-
NM_181503.3(EXOSC8):c.55-10_55-9del	11340	EXOSC8	Benign/Likely benign	144158336	RCV000224260\|RCV002500746;	N	MedGen:CN517202\|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37576613	37576614	13:g.37576613_37576614del	ClinGen:CA6951087	CN517202 not provided;
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)	11340	EXOSC8	Conflicting interpretations of pathogenicity	764339075	RCV001090327\|RCV002254332;	N	MedGen:C3661900\|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37576657	37576659	13:g.37576657_37576659del	-
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)	11340	EXOSC8	Uncertain significance	-1	RCV003147138;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37580059	37580059	NC_000013.10:g.37580059C>T	-
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)	11340	EXOSC8	Benign	1127446	RCV000989100\|RCV001619873\|RCV001796340;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254\|MedGen:C3661900\|MedGen:CN169374	13	37580139	37580139	13:g.37580139G>A	-
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)	11340	EXOSC8	Uncertain significance	-1	RCV002632413\|RCV003143507;	N	MedGen:CN517202\|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37582242	37582246	NC_000013.10:g.37582246_37582250del	-
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)	11340	EXOSC8	Uncertain significance	1593709247	RCV001004885;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37582952	37582952	13:g.37582952T>C	-
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)	11340	EXOSC8	Conflicting interpretations of pathogenicity	773616244	RCV001090328\|RCV002254333;	N	MedGen:C3661900\|MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37583337	37583338	13:g.37583337_37583338insG	-
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)	11340	EXOSC8	Uncertain significance	1221939030	RCV000662025;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254	13	37583386	37583386	13:g.37583386G>T	-	C4015160 616081 Pontocerebellar hypoplasia, type 1c;
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	11340	EXOSC8	Conflicting interpretations of pathogenicity	36027220	RCV000144941\|RCV000418794;	N	MONDO:MONDO:0014485,MedGen:C4015160,OMIM:616081, Orphanet:2254\|MedGen:C3661900	13	37583420	37583420	NC_000013.10:g.37583420G>C	ClinGen:CA214512,UniProtKB:Q96B26#VAR_072559,OMIM:606019.0001	CN517202 not provided;

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