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| Mendeliome v1.3482 | EIPR1 | Zornitza Stark Marked gene: EIPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3482 | EIPR1 | Zornitza Stark Gene: eipr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3482 | EIPR1 | Zornitza Stark Classified gene: EIPR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3482 | EIPR1 | Zornitza Stark Gene: eipr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3479 | EIPR1 |
Thomas Cloney gene: EIPR1 was added gene: EIPR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EIPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIPR1 were set to 41058046 Phenotypes for gene: EIPR1 were set to Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related Penetrance for gene: EIPR1 were set to unknown Review for gene: EIPR1 was set to GREEN Added comment: Report of 8 individuals from 6 unrelated consanguinous families with homozygous EIPR1 variants (5 different variants). Phenotype: All had global developmental delay (range of severity), with significant motor delay (5/8 never attained walking). Neurological manifestations: 2/8 Hypotonia, 4/8 had spasticity. 5/8 had microcepahly. MRI Brain abnormalities included: delayed myelination, hypoplasia of the corpus callosum, mild cerebellar atrophy, dysmorphic lateral ventricles. (Limited phenotypic information in pre-print - all in supplementary data) Functional data: In vitro functional work show reduced protrien levels and interaction with EARP and GARP; and in vivo zebrafish models with knowckout of EIPR1 result in neurodevelopmental and locomotor defects Sources: Literature |
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