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Severe microcephaly v2.304 | HIST1H4C | Arina Puzriakova Mode of pathogenicity for gene: HIST1H4C was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.303 | HIST1H4C | Arina Puzriakova Publications for gene: HIST1H4C were set to 28920961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.302 | HIST1H4C | Arina Puzriakova Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:61975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.293 | HIST1H4C | Eleanor Williams Tag Q3_21_rating was removed from gene: HIST1H4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.292 | HIST1H4C | Sarah Leigh commented on gene: HIST1H4C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.291 | HIST1H4C |
Eleanor Williams Source Expert Review Green was added to HIST1H4C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Severe microcephaly v2.242 | HIST1H4C | Ivone Leong Tag Q3_21_rating tag was added to gene: HIST1H4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.242 | HIST1H4C | Ivone Leong Classified gene: HIST1H4C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.242 | HIST1H4C | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible) but not OMIM. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.242 | HIST1H4C | Ivone Leong Gene: hist1h4c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.241 | HIST1H4C | Ivone Leong commented on gene: HIST1H4C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.241 | HIST1H4C | Ivone Leong Tag new-gene-name tag was added to gene: HIST1H4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.19 | HIST1H4C |
Zornitza Stark gene: HIST1H4C was added gene: HIST1H4C was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIST1H4C were set to 28920961 Phenotypes for gene: HIST1H4C were set to Growth delay, microcephaly and intellectual disability Review for gene: HIST1H4C was set to GREEN gene: HIST1H4C was marked as current diagnostic Added comment: Two families and a zebrafish model reported initially, another case identified through clinical testing internally. Sources: Expert list |