Disease #00002

Official abbreviation JBTS-1
Name Joubert syndrome, type 1 (JBTS-1)
OMIM ID 213300
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 47
Phenotype entries for this disease 49
Associated with 5 genes AHI1, CEP290, INPP5E, TCTN1, TMEM67
Associated tissues -
Disease features -
Remarks -


Individuals

47 entries on 1 page. Showing entries 1 - 47.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00001648 - Human Mutat. 2013 - - yes Pakistan Pakistan - 0 - - JBTS-1 PDE6D PDE6D 1 1 Tania Attie-Bitach
00016591 - - - M yes Iraq - - 0 - - JBTS-1 AHI1, ARL13B, CC2D2A, CEP290, CSPP1, INPP5E, KIF7, NPHP1, OFD1, POC1B, RPGRIP1L, TMEM216, TMEM231, TMEM67 POC1B 1 1 Hanno Bolz
00017612 - - - M yes Tunisia African - 0 - - JBTS-1 - ARL13B 1 1 Tania Attie-Bitach
00017626 - - - M yes Turkey - - 0 - - JBTS-1 TCTN2 TCTN2 1 1 Valeska Frank
00017648 - - - M yes - (not applicable) - - 0 - - JBTS-1 TCTN3 TCTN3 1 1 Valeska Frank
00017798 - PubMed: Sang 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - 0 - - JBTS-1 TCTN2 TCTN2 1 1 Johan den Dunnen
00017799 - PubMed: Sang 2011 1 affected, unaffected heterozygous carrier parents M yes India India, east - 0 - - JBTS-1 TCTN2 TCTN2 1 1 Johan den Dunnen
00017800 - PubMed: Sang 2011 famiy, 4 affected siblings, unaffected heterozygous carrier parents - yes Pakistan - - 0 - - JBTS-1 TCTN2 TCTN2 1 4 Johan den Dunnen
00019400 - - - - - - - - 0 - - JBTS-1 MKS1 MKS1 2 1 Hester Y. Kroes
00019401 - - - - - India - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00019402 - - - - - Pakistan - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00019403 - - - - - Greece - - 0 - - JBTS-1 - MKS1 2 1 Hester Y. Kroes
00019404 - - - - - Serbia - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00019405 - - - - - Slovenia - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00019406 - - mixed background (father Greek, mother Trinidad) - - Greece Greek;Trinidad - 0 - - JBTS-1 - MKS1 2 1 Hester Y. Kroes
00019407 - - - - no Netherlands - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00019408 - - - - - Turkey - - 0 - - JBTS-1 - MKS1 1 1 Hester Y. Kroes
00027191 - PubMed: Aldinger 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Canada European - 0 - - JBTS-1 LAMA1 LAMA1 4 2 Johan den Dunnen
00027192 - PubMed: Aldinger 2014 2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents F no Canada Asian; African American - 0 - - JBTS-1 LAMA1 LAMA1 2 2 Johan den Dunnen
00028912 - - - - - - - - 0 - - JBTS-1 AHI1 AHI1 2 1 Sanne Savelberg
00028913 - - - - - - - - 0 - - JBTS-1 AHI1 AHI1 2 1 Sanne Savelberg
00028914 - - - - - - - - 0 - - JBTS-1 AHI1 AHI1 2 1 Sanne Savelberg
00028915 - - - - - - - - 0 - - JBTS-1 AHI1, TMEM67 AHI1, TMEM67 2 1 Sanne Savelberg
00028916 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 1 1 Sanne Savelberg
00028917 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 2 1 Sanne Savelberg
00028918 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 1 1 Sanne Savelberg
00028919 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 2 1 Sanne Savelberg
00028920 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 2 1 Sanne Savelberg
00028921 - - - - - - - - 0 - - JBTS-1 C5orf42 C5orf42 2 1 Sanne Savelberg
00028922 - - - - - - - - 0 - - JBTS-1 CC2D2A CC2D2A 2 1 Sanne Savelberg
00028923 - - - - - - - - 0 - - JBTS-1 CEP290 CEP290 2 1 Sanne Savelberg
00028924 - - - - - - - - 0 - - JBTS-1 INPP5E INPP5E 1 1 Sanne Savelberg
00028925 - - - - - - - - 0 - - JBTS-1 INPP5E INPP5E 1 1 Sanne Savelberg
00028926 - - - M - (Netherlands) - - 0 - - JBTS-1 OFD1 OFD1 1 1 Sanne Savelberg
00028947 - - - - - - - - 0 - - JBTS-1 RPGRIP1L RPGRIP1L 2 1 Sanne Savelberg
00028948 - - - - - - - - 0 - - JBTS-1 TMEM231 TMEM231 1 1 Sanne Savelberg
00028949 - - - - - - - - 0 - - JBTS-1 TMEM67 TMEM67 2 1 Sanne Savelberg
00028950 - - - - - - - - 0 - - JBTS-1 TMEM67 TMEM67 2 1 Sanne Savelberg
00028951 - - - - - - - - 0 - - JBTS-1 TMEM67 TMEM67 2 1 Sanne Savelberg
00028952 - - - - - - - - 0 - - JBTS-1 TMEM67 TMEM67 2 1 Sanne Savelberg
00033081 - - - M - Pakistan - - 0 - - JBTS-1 CEP290 CEP290 2 1 Johan den Dunnen
00033086 - - - - - - - - 0 - - JBTS-1 CEP290 CEP290 1 2 Johan den Dunnen
00033335 - - - - - Saudi Arabia - - 0 - - JBTS-1 CEP290 CEP290 2 1 Anas M Alazami
00033336 - - - - - Saudi Arabia - - 0 - - JBTS-1 CEP290 CEP290 2 1 Anas M Alazami
00033337 - - - - ? Saudi Arabia - - 0 - - JBTS-1 AHI1 AHI1 2 1 Anas M Alazami
00033338 - - - - - Saudi Arabia - - 0 - - JBTS-1 RPGRIP1L RPGRIP1L 2 1 Anas M Alazami
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