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TIMP3 TMCO3 TMEM126A TMEM138 TMEM216

137,5 121,6 104,8 82,7 88

TMEM231

101,1 100.0%

99.3%

TMEM237 TMEM67

117,7 100.0% 83,1 99.1%

99.2% 94.6%

TOPORS TPP1

182,2 100.0% 123,7 100.0%

100.0% 99.9%

TRAF3IP1 TREX1

84,2 99.4% 233,4 100.0%

97.1% 100.0%

123 100.0%

100.0%

TRIM32

100.0% 100.0% 96.2% 100.0% 99.7%

100.0% 99.2% 82.8% 99.2% 95.7%

TRNT1

101,5 99.2%

96.5%

TRPM1 TSPAN12 TTC8

128,8 100.0% 135,3 100.0% 115,2 99.8%

99.0% 99.4% 98.8%

TTLL5 TUB TUBA3D TUBB3

136,1 103,4 103,6 121,3

98.7% 99.4% 95.9% 98.4%

100.0% 100.0% 99.3% 99.8%

Sorsby fundus dystrophy, 136900 No OMIM phenotype Optic atrophy 7, 612989 Joubert syndrome 16, 614465 Joubert syndrome 2, 608091 Meckel syndrome 2, 603194 Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Joubert syndrome 14, 614424 ?RHYNS syndrome, 602152 COACH syndrome, 216360 Joubert syndrome 6, 610688 Meckel syndrome 3, 607361 Nephronophthisis 11, 613550 {Bardet-Biedl syndrome 14, modifier of}, 615991 Retinitis pigmentosa 31, 609923 Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Senior-Loken syndrome 9, 616629 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Chilblain lupus, 610448 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 {Systemic lupus erythematosus, susceptibility to}, 152700 ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 Retinitis pigmentosa and erythrocytic microcytosis, 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Exudative vitreoretinopathy 5, 613310 ?Retinitis pigmentosa 51, 613464 Bardet-Biedl syndrome 8, 615985 Cone-rod dystrophy 19, 615860 ?Retinal dystrophy and obesity, 616188 Keratoconus 9, 617928 Cortical dysplasia, complex, with other brain malformations 1, 614039 Fibrosis of extraocular muscles, congenital, 3A, 600638

Profile for Radboudumc

Vision disorders gene panel dg216  

Vision disorders gene panel dg216