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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)
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