All individuals with variants in gene RTN4IP1

48 entries on 1 page. Showing entries 1 - 48.
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00065277 Family I, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - >45y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843) 1 2 Pieter Klap
00065278 Family I, II-4 PubMed: Angebault 2015 Brother of Patient II4 M yes Morocco - >52y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Pieter Klap
00065279 Family II, II-1 PubMed: Angebault 2015 Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Romani >25y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Centrocecal scotoma (HP:0000576) 1 1 Pieter Klap
00065280 Family III, II-5 (2015) / Family 2, II-5 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France Romani >23y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Nyctalopia (HP:0000662); Rod-cone dystrophy (HP:0000510); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479); Abnormal timing of light-adapted flicker electroretinogram (HP:0030480) 1 1 Pieter Klap
00065281 Family IV, II-2 (2015) / Family 4, II-2 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents F no - - >14y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Hypoplasia of the optic tract (HP:0007096); Ataxia (HP:0001251); Intellectual disability (HP:0001249); Generalized myoclonic seizure (HP:0002123) 2 2 Pieter Klap
00065282 Family IV, II-3 (2015) / Family 4, II-3 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020) F no - - >12y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Hypoplasia of the optic tract (HP:0007096); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Ataxia (HP:0001251); Intellectual disability (HP:0001249) 2 1 Pieter Klap
00327002 Patient I PubMed: Okamoto 2017 - M no Japan - - - - - neuropathy, optic Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Seizure (HP:0001250); Neurodevelopmental delay (HP:0012758); Lactic acidosis (HP:0003128) 2 2 Aude Rocatcher
00327590 Patient II PubMed: Okamoto 2017 - M no Japan - - - - - neuropathy, optic Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Mild global developmental delay (HP:0011342) 2 1 Aude Rocatcher
00327591 Proband II1 PubMed: Zou 2019 - F no China - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128) 2 2 Aude Rocatcher
00327592 Proband II2 PubMed: Zou 2019 - M no China - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Increased theta frequency activity in EEG (HP:0031535); EEG with focal epileptiform discharges (HP:0011185); Intellectual disability (HP:0001249); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128) 2 1 Aude Rocatcher
00327593 Family 1 PubMed: Charif 2018 - M yes France Romani - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Strabismus (HP:0000486); Photophobia (HP:0000613); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249) 1 1 Aude Rocatcher
00327615 Family 2-1 PubMed: Charif 2018 - F yes France Romani - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 2 Aude Rocatcher
00327616 Family 2-2 PubMed: Charif 2018 - F yes France Romani - - - - neuropathy, optic Very low visual acuity (HP:0032122); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); 1 1 Aude Rocatcher
00327617 Family 3 PubMed: Charif 2018 - M yes France Romani - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649) 1 1 Aude Rocatcher
00327618 Family 4 PubMed: Charif 2018 - M yes France Romani - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649) 1 1 Aude Rocatcher
00327901 Family 5 PubMed: Charif 2018 - F yes France Maghrebian - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642) 1 1 Aude Rocatcher
00327902 Family 6 PubMed: Charif 2018 - F no Mauritius Mauritius father of Irish/Pakistani descent; mother of Indian descent - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Sudden loss of visual acuity (HP:0001117); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Strabismus (HP:0000486); Abnormality of visual evoked potentials (HP:0000649); Red-green dyschromatopsia (HP:0000642); Nystagmus (HP:0000639) 2 1 Aude Rocatcher
00327904 Family 7 PubMed: Charif 2018 Ophthalmological examination not performed M yes Pakistan - - - - - neuropathy, optic Seizure (HP:0001250); Postnatal growth retardation (HP:0008897); Severe global developmental delay (HP:0011344); Lactic acidosis (HP:0003128); Feeding difficulties (HP:0011968); Seizure precipitated by febrile infection (HP:0032894); Bilateral tonic-clonic seizure (HP:0002069); Developmental regression (HP:0002376) 1 1 Aude Rocatcher
00328345 Family 8 PubMed: Charif 2018 - F yes Iran - - - - - neuropathy, optic Progressive visual loss (HP:0000529); Blindness (HP:0000618); Vertical nystagmus (HP:0010544); Photophobia (HP:0000613); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure (HP:0001250); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Lower limb spasticity (HP:0002061); Gait ataxia (HP:0002066); Neonatal hypotonia (HP:0001319) 1 1 Aude Rocatcher
00328347 Family 9 PubMed: Charif 2018 - M no Italy - - - - - neuropathy, optic Poor visual behavior for age (HP:0025152); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Global developmental delay (HP:0001263); Intellectual disability, severe (HP:0010864); Increased serum pyruvate (HP:0003542); Lactic acidosis (HP:0003128); Spastic tetraparesis (HP:0001285); Arm dystonia (HP:0031960); Sensory axonal neuropathy (HP:0003390); Generalized-onset seizure (HP:0002197); EEG abnormality (HP:0002353); Abnormal auditory evoked potentials (HP:0006958); Abnormality of visual evoked potentials (HP:0000649); Abnormal thalamic MRI signal intensity (HP:0012696); Abnormal brainstem MRI signal intensity (HP:0012747) 2 1 Aude Rocatcher
00328438 Family 10 PubMed: Charif 2018 - M no Italy - <05y - - - neuropathy, optic Poor visual behavior for age (HP:0025152); Optic disc pallor (HP:0000543); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Eyelid myoclonias (HP:0011168); Stridor (HP:0010307); Neonatal hypotonia (HP:0001319); Severe global developmental delay (HP:0011344); Seizure (HP:0001250); EEG with burst suppression (HP:0010851); Cerebral atrophy (HP:0002059); Elevated brain lactate level by MRS (HP:0012707) 1 1 Aude Rocatcher
00328440 Family 11 PubMed: Charif 2018 Ophthalmological examination not performed F no - - <01y - - - neuropathy, optic Uncontrolled eye movements (HP:0007738); Decreased fetal movement (HP:0001558); Feeding difficulties (HP:0011968); Stridor (HP:0010307); Failure to thrive (HP:0001508); Lactic acidosis (HP:0003128); Hyperalaninemia (HP:0003348); Abnormal basal ganglia MRI signal intensity (HP:0012751); EEG with centrotemporal focal spike waves (HP:0012557) 2 1 Aude Rocatcher
00328817 Family 3, II-4 PubMed: Meunier 2020 - M yes France Romani - - - - neuropathy, optic Ultra-low vision with retained motion projection (HP:0032284); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843) 1 3 Aude Rocatcher
00328818 Family 3, II-5 PubMed: Meunier 2020 - M yes France Romani - - - - neuropathy, optic Ultra-low vision with retained light perception (HP:0032286); Nystagmus (HP:0000639); Photophobia (HP:0000613); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Bone spicule pigmentation of the retina (HP:0007737); Macular edema (HP:0040049); Undetectable light- and dark-adapted electroretinogram (HP:0007688); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Severe constriction of peripheral visual field (HP:0030526) 1 1 Aude Rocatcher
00328823 Family 3, III-2 PubMed: Meunier 2020 - F yes France Romani - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Attenuation of retinal blood vessels (HP:0007843); Bone spicule pigmentation of the retina (HP:0007737); Ring scotoma (HP:0030529); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629) 1 1 Aude Rocatcher
00328828 - PubMed: Giacomini 2020 - M no Italy - - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Horizontal nystagmus (HP:0000666); High myopia (HP:0011003); Alternating esotropia (HP:0001137); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Intellectual disability, mild (HP:0001256); Neutropenia, mild (HP:0001875); Leukopenia (HP:0001882); Hearing impairment (HP:0000365); Chorea (HP:0002072); Dysarthria (HP:0001260); Periventricular heterotopia (HP:0007165) 1 1 Aude Rocatcher
00328831 - PubMed: D'Gama 2021 - M no - - - - - - neuropathy, optic Neonatal respiratory distress (HP:0002643); Nasogastric tube feeding in infancy (HP:0011470); Horizontal nystagmus (HP:0000666); High hypermetropia (HP:0008499); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Infantile axial hypotonia (HP:0009062); Limb hypertonia (HP:0002509); Ataxia (HP:0001251); Choreoathetosis (HP:0001266); Focal T2 hypointense basal ganglia lesion (HP:0012752); Focal hyperintensity of cerebral white matter on MRI (HP:0040328); Decreased thalamic volume (HP:0012695); Short stature (HP:0004322); Macrocephaly (HP:0000256); High palate (HP:0000218); Wide intermamillary distance (HP:0006610); Reduced tendon reflexes (HP:0001315); Oral-pharyngeal dysphagia (HP:0200136); Lactic acidosis (HP:0003128); Elevated lactate:pyruvate ratio (HP:0032653); Developmental regression (HP:0002376); Increased size of nasopharyngeal adenoids (HP:0040261); Bilateral tonic-clonic seizure (HP:0002069); Focal-onset seizure (HP:0007359); Interictal epileptiform activity (HP:0011182); EEG with generalized slow activity (HP:0010845); 2 1 Aude Rocatcher
00328832 - PubMed: Rajabian 2021 - F no Italy - - - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Progressive visual loss (HP:0000529); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Photoreceptor layer loss on macular OCT (HP:0030609); Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654) 2 1 Aude Rocatcher
00329130 - PubMed: Li 2020 - ? - China - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); 1 1 Aude Rocatcher
00329131 - PubMed: Li 2020 - ? ? China - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); 1 1 Aude Rocatcher
00329132 - PubMed: Li 2020 - ? ? China - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Aude Rocatcher
00333367 - Angers (under submission) - F yes France - - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249) 1 3 Aude Rocatcher
00333368 - Angers (under submission) - M yes France - - - - - neuropathy, optic Mildly reduced visual acuity (HP:0032037); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Aude Rocatcher
00333369 - Angers (under submission) - F yes France - - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Red-green dyschromatopsia (HP:0000642); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249) 1 1 Aude Rocatcher
00333371 - Angers (under submission) - F no France - - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Tritanomaly (HP:0000552); Centrocecal scotoma (HP:0000576); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Aude Rocatcher
00333372 - Angers (under submission) - M no France - - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Rotary nystagmus (HP:0001583); Central scotoma (HP:0000603); Retinal vascular tortuosity (HP:0012841); Hypoplasia of the fovea (HP:0007750); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Open bite (HP:0010807); Macroglossia (HP:0000158) 2 1 Aude Rocatcher
00333378 - Angers (under submission) - M no - - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Optic neuropathy (HP:0001138); Exodeviation (HP:0020049) 1 1 Aude Rocatcher
00333379 - Angers (under submission) - M no France - - - - - neuropathy, optic Optic neuropathy (HP:0001138) 2 1 Aude Rocatcher
00333380 - Angers (under submission) - F no France - - - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) 1 1 Aude Rocatcher
00359431 - Angers (under submission) - M no New Caledonia - - - - - neuropathy, optic - 1 1 Aude Rocatcher
00426910 14_16 PubMed: Zhu 2022 family 14, individual 16 M - - - - - - - retinal disease - 1 1 LOVD
00430769 Fam1PatII2(Pat1) PubMed: Aldosary 2022 family, 3 affected F yes Saudi Arabia - - - - - neuropathy, optic Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Abnormal pupillary light reflex (HP:0007695); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Bulbous nose (HP:0000414); Microtia (HP:0008551); Hypertelorism (HP:0000316); Thick upper lip vermilion (HP:0000215); Short philtrum (HP:0000322); Eczema (HP:0000964); Seizure (HP:0001250); Bilateral tonic-clonic seizure (HP:0002069); Focal impaired awareness seizure (HP:0002384); Elevated brain lactate level by MRS (HP:0012707); EEG abnormality (HP:0002353) 1 3 Aude Rocatcher
00430770 Fam1PatII1(Pat2) PubMed: Aldosary 2022 - F yes Saudi Arabia - - - - - neuropathy, optic Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Unsteady gait (HP:0002317); Delayed speech and language development (HP:0000750); Cognitive impairment (HP:0100543); Moderate global developmental delay (HP:0011343); Loss of ambulation (HP:0002505); Seizure (HP:0001250); EEG with focal spikes (HP:0011193) 1 1 Aude Rocatcher
00430771 FamPatII4(Pat3) PubMed: Aldosary 2022 - M yes Saudi Arabia - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Seizure (HP:0001250); Elevated brain lactate level by MRS (HP:0012707) 1 1 Aude Rocatcher
00430772 Fam2PatII1(Pat4) PubMed: Aldosary 2022 family, 3 affected M yes Saudi Arabia - - - - - neuropathy, optic Global developmental delay (HP:0001263); Seizure (HP:0001250); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced brain lactate level by MRS (HP:0025046) 1 3 Aude Rocatcher
00430773 Fam2PatII2(Pat5) PubMed: Aldosary 2022 - F yes Saudi Arabia - - - - - neuropathy, optic Nystagmus (HP:0000639); Seizure (HP:0001250); EEG with focal spikes (HP:0011193); EEG with focal slow activity (HP:0010843); Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707) 1 1 Aude Rocatcher
00430774 Fam2PatII3(Pat6) PubMed: Aldosary 2022 - M yes Saudi Arabia - - - - - neuropathy, optic Intellectual disability (HP:0001249); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Elevated brain lactate level by MRS (HP:0012707) 1 1 Aude Rocatcher
00431008 - PubMed: Jurkute 2022 - M no United Kingdom (Great Britain) - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Seizure precipitated by febrile infection (HP:0032894); Abnormality of visual evoked potentials (HP:0000649); Severely reduced visual acuity (HP:0001141); Dyschromatopsia (HP:0007641); Abnormal Ishihara plate test (HP:0030586); Myopic astigmatism (HP:0500041); Temporal optic disc pallor (HP:0012511) 2 1 Aude Rocatcher
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