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Mendeliome v1.1350 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Mendeliome v1.1350 HIST1H4F Zornitza Stark Added comment: Comment when marking as ready: New gene name H4C6
Mendeliome v1.1350 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1350 HIST1H4F Zornitza Stark Tag new gene name tag was added to gene: HIST1H4F.
Mendeliome v0.11103 HIST1H4F Zornitza Stark Marked gene: HIST1H4F as ready
Mendeliome v0.11103 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11103 HIST1H4F Zornitza Stark Mode of inheritance for gene: HIST1H4F was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11102 HIST1H4F Zornitza Stark Phenotypes for gene: HIST1H4F were changed from Neurodevelopmental disorders to Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related
Mendeliome v0.11101 HIST1H4F Zornitza Stark Classified gene: HIST1H4F as Amber List (moderate evidence)
Mendeliome v0.11101 HIST1H4F Zornitza Stark Gene: hist1h4f has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11097 HIST1H4F Elena Savva gene: HIST1H4F was added
gene: HIST1H4F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIST1H4F was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4F were set to PMID: 35202563
Phenotypes for gene: HIST1H4F were set to Neurodevelopmental disorders
Review for gene: HIST1H4F was set to AMBER
Added comment: PMID: 35202563 - single de novo missense in a patient with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay.
- zebrafish studies show a significant increase in all of mild dev delay, necrosis, defective organogenesis and pre-gastrulation failure
Sources: Literature