All individuals with variants in gene COL4A1

93 entries on 1 page. Showing entries 1 - 93.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00035316 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035317 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035318 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035319 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035320 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035321 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035322 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035323 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035324 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035325 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035326 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035327 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035328 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035329 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035330 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035331 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035332 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035333 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035334 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035335 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035336 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035337 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035338 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035339 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035340 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035341 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035342 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035343 - - - - - Germany - - 0 - - MEOAL mitochondrial myopathy 1 1 Andreas Laner
00035344 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035345 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035346 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035347 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035348 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035349 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035350 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035351 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035352 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035353 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035354 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035355 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035356 - - - - - Germany - - 0 - - MEOAL Multiple hemorrhagic porencephalic brain lesions, at birth transient platelet defiency with petechiae, mild facial dysmorphism 1 1 Andreas Laner
00035357 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035358 - - - - - Germany - - 0 - - ? global abnormal development, microcephaly, epilepsy, dystonic movement disorder 1 1 Andreas Laner
00035359 - - - - - Germany - - 0 - - ? global abnormal development, microcephaly, epilepsy, dystonic movement disorder 1 1 Andreas Laner
00035360 - - - - - Germany - - 0 - - ? global abnormal development, microcephaly, epilepsy, dystonic movement disorder 1 1 Andreas Laner
00035361 - - - - - Germany - - 0 - - ? infantile cerebral palsy (status post perinatal brain bleeding, adiposity 1 1 Andreas Laner
00035362 - - - - - Germany - - 0 - - ? autism, speech development disorder 1 1 Andreas Laner
00035363 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035364 - - - - - Germany - - 0 - - ? suspected isolated congenital cataract, autosomal dominant; MGZ #77960: status post stroke 2012, leukoencephalopathy 1 1 Andreas Laner
00035365 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035366 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035367 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035368 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035369 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035370 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035371 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035372 - - - - - Germany - - 0 - - ? suspected mitochondrial myopathia 1 1 Andreas Laner
00035373 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00035374 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035375 - - - - - Germany - - 0 - - ? V.a. genetisch bedingte Anlagestörung 1 1 Andreas Laner
00035376 - - - - - Germany - - 0 - - ? V.a. genetisch bedingte Anlagestörung 1 1 Andreas Laner
00035377 - - - - - Germany - - 0 - - ? suspected abnormal development 1 1 Andreas Laner
00035378 - - - - - Germany - - 0 - - ? suspected abnormal development 1 1 Andreas Laner
00035379 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035380 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035381 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035382 - - - - - Germany - - 0 - - ? autism, epilepsy 1 1 Andreas Laner
00080979 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - BSVD1;POREN1 Porencephaly 1 (OMIM:175780) 1 1 Daniel Trujillano
00269344 - - - M - - - - 0 - - ? Cerebral hemorrhage (HP:0001342); Cerebral palsy (HP:0100021); Intrauterine growth retardation (HP:0001511) 1 1 Andreas Laner
00269428 - - - M - - - - 0 - - ? Delayed speech and language development (HP:0000750); Joint laxity (HP:0001388); Leukodystrophy (HP:0002415); Hypermetropia (HP:0000540); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00296391 - - - F - - - - 0 - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Microcephaly (HP:0000252); Abnormal cortical gyration (HP:0002536); Abnormality of the cerebral cortex (HP:0002538); Abnormality of the skull (HP:0000929) 1 1 Andreas Laner
00302980 Pat25 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00308023 Pat2 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - 0 - - ? severe global developmental delay, congenital cataract, microcephaly 1 1 Johan den Dunnen
00311037 - - - F - - - - 0 - - ? Cataract (HP:0000518); Abnormality of the anterior chamber (HP:0000593); Glaucoma (HP:0000501) 1 1 Andreas Laner
00314706 MCA399 PubMed: Slavotinek 2015 - F - United States - - 0 - - ? see paper; no anophthalmia, no microphthalmia, congenital cataracts, cardiomyopathy, ... 1 1 Johan den Dunnen
00314909 Trio103 PubMed: Zhu 2015 - M - United States - - 0 - - ? Global developmental delay (cannot hold head up or sit up), microcephaly, infantile spasms, cortical visual impairment, West Syndrome, increased nuchal fold prenatally, history of sinus bradycardia, CSF abnormalities in neurotransmitter metabolites, periventricular calcifications, cereberal atrophy with prominet white matter loss, elevated choline and low N-acetylaspartatate in inferior, frontal, temporal, and parietal lobes bilaterally. Elevated startle reflex, involuntary movements. 1 1 Johan den Dunnen
00363773 G353 PubMed: Huang 2015 family M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00374272 S-5622 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Generalized spasticity, more in the lower limbs and mild speech and cognitive deficit, suggestive of hereditary spastic paraplegia 1 1 Johan den Dunnen
00374697 R-0517 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374698 S-498 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374709 R-0100 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00382119 236 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - BSVD1;POREN1 anterior segment developmental anomalies including glaucoma; MIM, 607595 1 1 LOVD
00384477 14778 PubMed: Wang 2019 - M - China - - 0 - - retinal disease - 1 1 LOVD
00385458 14001458 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385467 15000884 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385502 16024006 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385545 18014933 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00391784 130P - - M no Spain - - - - - BSVD1;POREN1, HANAC - 1 1 Alejandro Brea-Fernández
00392293 188382 - - M ? ? (unknown) - - 0 - - BSVD1;POREN1 Abnormal vascular morphology, Abnormality of the vasculature 1 1 Andreas Laner
00408706 Pat05 PubMed: Thomas 2022 patient, affected brother - - France - - 0 - - ? - 1 2 Johan den Dunnen
00410552 Pat14 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - 0 - - ? see paper; ..., onset neonatal, polycystic kidney disease, cerebral white matter lesions, depression, anxiety, migraine, family history 1 1 Johan den Dunnen
00410554 Pat16 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - 0 - - ? see paper; ..., onset adulthood, cerebral white matter lesions, hallucinations, psychosis, no family history 1 1 Johan den Dunnen
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