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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Usher Syndromes (D052245)
..Starting node ..Usher Syndrome, Type IF (C566586)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11457

Name:

Usher Syndrome, Type IF

Definition:

Alternative IDs:

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C566586 |C09.218.458.341.887.886/C566586 |C10.597.751.418.341.186.500.500/C566586 |C10.597.751.418.341.887.886/C566586 |C10.597.751.941.162.625.500/C566586 |C11.768.585.658.500.813/C566586 |C11.966.075.375.500/C566586 |C16.131.077.29

Synonyms:

Slim Mappings:

Reference:

MedGen: C566586
MeSH: C566586
OMIM: 602083;

Genes: PCDH15;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0001270	Motor delay
4	HP:0000510	Rod-cone dystrophy

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
NC_000010.11:g.(?_54317271)_(54664277_?)del	-1	-	Pathogenic	-1	RCV000151618;	N	MedGen:C1865885,OMIM:602083	10	56077031	56424037	-	-		-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.5398G>A (p.Val1800Ile)	65217	PCDH15	Benign;Likely benign	111033463	RCV000169085; RCV000039758;	N	MedGen:C1865885,OMIM:602083; MedGen:CN169374	10	55582088	55582088	NM_033056.3:c.5398G>A	NP_149045.3:p.Val1800Ile	NC_000010.10:g.55582088C>T	-	CN169374 not specified; C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser)	65217	PCDH15	Benign;Likely benign	61862390	RCV000169021; RCV000039757;	N	MedGen:C1865885,OMIM:602083; MedGen:CN169374	10	55582127	55582127	NM_033056.3:c.5359C>T	NP_149045.3:p.Pro1787Ser	NC_000010.10:g.55582127G>A	-	CN169374 not specified; C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.3717+1G>A	65217	PCDH15	Likely pathogenic	748706627	RCV000169489;	N	MedGen:C1865885,OMIM:602083	10	55626401	55626401	NM_033056.3:c.3717+1G>A		NC_000010.10:g.55626401C>T	-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.3358C>T (p.Arg1120Ter)	65217	PCDH15	Pathogenic	773404494	RCV000223562;	N	MedGen:C1865885,OMIM:602083	10	55698590	55698590	NM_033056.3:c.3358C>T	NP_149045.3:p.Arg1120Ter	NC_000010.10:g.55698590G>A	-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter)	65217	PCDH15	Likely pathogenic;Pathogenic	202033121	RCV000039723;	N	MedGen:C1865885,OMIM:602083	10	55698632	55698632	NM_033056.3:c.3316C>T	NP_149045.3:p.Arg1106Ter	NC_000010.10:g.55698632G>A	-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.1998-2A>G	65217	PCDH15	Pathogenic	397517452	RCV000039708;	N	MedGen:C1865885,OMIM:602083	10	55839186	55839186	NM_033056.3:c.1998-2A>G		NC_000010.10:g.55839186T>C	-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.1940C>G (p.Ser647Ter)	65217	PCDH15	Pathogenic	137853004	RCV000005224;	N	MedGen:C1865885,OMIM:602083	10	55849801	55849801	NM_033056.3:c.1940C>G	NP_149045.3:p.Ser647Ter	NC_000010.10:g.55849801G>C	OMIM Allelic Variant:605514.0009	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.1927C>T (p.Arg643Ter)	65217	PCDH15	Pathogenic	727504301	RCV000154331;	N	MedGen:C1865885,OMIM:602083	10	55849814	55849814	NM_033056.3:c.1927C>T	NP_149045.3:p.Arg643Ter	NC_000010.10:g.55849814G>A	-	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.1086delT (p.Leu363Trpfs)	65217	PCDH15	Pathogenic	199469706	RCV000005217;	N	MedGen:C1865885,OMIM:602083	10	55973708	55973708	NM_033056.3:c.1086delT	NP_149045.3:p.Leu363Trpfs	NC_000010.10:g.55973708delA	OMIM Allelic Variant:605514.0003	C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter)	65217	PCDH15	Pathogenic	111033260	RCV000055970; RCV000005218; RCV000218809;	Y	MedGen:C1568247,OMIM:276900; MedGen:C1847089,OMIM:606943; MedGen:C1865885,OMIM:602083	10	56077174	56077174	NM_033056.3:c.733C>T	NP_149045.3:p.Arg245Ter	NC_000010.10:g.56077174G>A	OMIM Allelic Variant:605514.0004	C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F; C1847089 606943 Usher syndrome, type 1G
NM_033056.3(PCDH15):c.16delT (p.Tyr6Ilefs)	65217	PCDH15	Pathogenic	397517451	RCV000039705; RCV000219366;	N	MedGen:C1568247,OMIM:276900; MedGen:C1865885,OMIM:602083	10	56424007	56424007	NM_033056.3:c.16delT	NP_149045.3:p.Tyr6Ilefs	NC_000010.10:g.56424007delA	-	C1568247 276900 Usher syndrome, type 1; C1865885 602083 Usher syndrome, type 1F
NM_033056.3(PCDH15):c.7C>T (p.Arg3Ter)	65217	PCDH15	Likely pathogenic;Pathogenic	137853001	RCV000005216;	N	MedGen:C1865885,OMIM:602083	10	56424016	56424016	NM_033056.3:c.7C>T	NP_149045.3:p.Arg3Ter	NC_000010.10:g.56424016G>A	OMIM Allelic Variant:605514.0002	C1865885 602083 Usher syndrome, type 1F