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| Mendeliome v1.4432 | ZFHX2 |
Bryony Thompson gene: ZFHX2 was added gene: ZFHX2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZFHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFHX2 were set to 29253101 Phenotypes for gene: ZFHX2 were set to congenital insensitivity to pain syndrome, Marsili type MONDO:0958106 Review for gene: ZFHX2 was set to RED Added comment: A single family reported and a supporting mouse model. Sources: Literature |
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| Mendeliome v1.3770 | HUWE1 | Lucy Spencer Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2584 | ARSI | Zornitza Stark Marked gene: ARSI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2584 | ARSI | Zornitza Stark Gene: arsi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2584 | ARSI | Zornitza Stark Classified gene: ARSI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2584 | ARSI | Zornitza Stark Gene: arsi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | ARSI |
Sangavi Sivagnanasundram gene: ARSI was added gene: ARSI was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSI were set to 24482476 Phenotypes for gene: ARSI were set to Complex spastic paraplegia, MONDO:0015150 Review for gene: ARSI was set to RED Added comment: No new information supporting gene-disease association. Review from HSP paediatric panel - "Single family reported" Sources: Expert Review |
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| Mendeliome v0.1114 | HUWE1 | Zornitza Stark Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||