CAT Results

CATSPER2

cation channel sperm associated 2
06/01/2017

TBX1

T-box 1
12/05/2017

KHDC3L

KH domain containing 3 like, subcortical maternal complex member
05/31/2017

IGHMBP2

immunoglobulin mu binding protein 2
09/11/2017

TYRP1

tyrosinase related protein 1
06/01/2017

CAT

catalase

CATSPER4

cation channel sperm associated 4

LCAT

lecithin-cholesterol acyltransferase

ACAT2

acetyl-CoA acetyltransferase 2

BCAT1

branched chain amino acid transaminase 1

GCAT

glycine C-acetyltransferase

PPP1R10

protein phosphatase 1 regulatory subunit 10

CATIP

ciliogenesis associated TTC17 interacting protein

CATSPER1

cation channel sperm associated 1

SLC7A4

solute carrier family 7 member 4

SLC7A3

solute carrier family 7 member 3

SLC7A2

solute carrier family 7 member 2

SLC7A1

solute carrier family 7 member 1

PRR3

proline rich 3

DST

dystonin

catecholaminergic polymorphic ventricular tachycardia 1

OMIM_604772 Condition
catecholaminergic polymorphic ventricular tachycardia type 1
03/08/2017

cataract 18

OMIM_610019 Condition
cataract 18 autosomal recessive
06/01/2017

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

OMIM_231005 Condition
Gaucher disease type 3C
07/25/2016

05/31/2017

catecholaminergic polymorphic ventricular tachycardia 2

OMIM_611938 Condition
Ventricular Tachycardia, Catecholaminergic Polymorphic, type 2
05/31/2017

06/01/2017

05/31/2017

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

OMIM_613076 Condition
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
06/01/2017

Chondrodysplasia with joint dislocations, gPAPP type

OMIM_614078 Condition
gPAPP deficiency
05/31/2017

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

OMIM_601552 Condition
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
05/31/2017

Familial clubfoot due to 17q23.1q23.2 microduplication

OMIM_613618 Condition
Hereditary clubfoot due to 17q23.1-q23.2 microduplication

BRCATA

OMIM_600048 Condition

cataract 40

OMIM_302200 Condition
Cataract type 40

Cat-scratch disease

Orphanet_50839 Condition

Congenital elbow dislocation

Orphanet_295032 Condition
Congenital radial head dislocation

1q21.1 microduplication syndrome

Orphanet_250994 Condition

pramoxine Medicated Pad [Prax]

RXNORM:999721 Drug

chloroxylenol Medicated Bar Soap

RXNORM:1038960 Drug