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Clefting v4.15 CHD4 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.15 CHD4 Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence)
Clefting v4.15 CHD4 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistently found in patients with monoallelic CHD4 variants. Hence, this gene should be rated amber.
Clefting v4.15 CHD4 Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence).
Clefting v4.14 CHD4 Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence)
Clefting v4.14 CHD4 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistently found in patients with monoallelic CHD4 variants. Hence, this gene should be rated amber.
Clefting v4.14 CHD4 Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence).
Clefting v4.13 CHD4 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.13 CHD4 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CHD4.
Clefting v4.13 CHD4 Achchuthan Shanmugasundram edited their review of gene: CHD4: Changed rating: AMBER
Clefting v4.13 CHD4 Achchuthan Shanmugasundram changed review comment from: PMID:31388190 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: Literature; to: PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one patient (p.Gln715Ter) had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, 2 out of 10 patients with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: Literature
Clefting v4.13 CHD4 Achchuthan Shanmugasundram changed review comment from: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: Literature; to: PMID:31388190 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: Literature
Clefting v4.6 CHD4 Achchuthan Shanmugasundram changed review comment from: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288)
Sources: Literature; to: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: Literature
Clefting v4.6 CHD4 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CHD4.
Clefting v4.6 CHD4 Achchuthan Shanmugasundram Classified gene: CHD4 as Amber List (moderate evidence)
Clefting v4.6 CHD4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases presenting with either cleft palate and/or bifid uvula. Hence, this gene can be promoted to green at the next major review.
Clefting v4.6 CHD4 Achchuthan Shanmugasundram Gene: chd4 has been classified as Amber List (Moderate Evidence).
Clefting v4.5 CHD4 Achchuthan Shanmugasundram gene: CHD4 was added
gene: CHD4 was added to Clefting. Sources: Literature
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD4 were set to 31388190; 37010288
Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, OMIM:617159
Review for gene: CHD4 was set to GREEN
Added comment: PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.

In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288)
Sources: Literature