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Intellectual disability - microarray and sequencing v2.1008 FRMPD4 Rebecca Foulger Classified gene: FRMPD4 as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.1008 FRMPD4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green on advice of Genomics England clinical team: four families with a relevant phenotype meets the criteria for a Green rating.
Intellectual disability - microarray and sequencing v2.1008 FRMPD4 Rebecca Foulger Gene: frmpd4 has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.1007 FRMPD4 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI set to X-linked dominant on advice of Genomics England clinical team, in view of the single reported female heterozygote with a relevant phenotype.
Intellectual disability - microarray and sequencing v2.1007 FRMPD4 Rebecca Foulger Mode of inheritance for gene: FRMPD4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only heterozygous carrier who displays ID features.
Intellectual disability - microarray and sequencing v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion.
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Intellectual disability - microarray and sequencing v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion.
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Intellectual disability - microarray and sequencing v2.977 FRMPD4 Catherine Snow changed review comment from: PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Intellectual disability - microarray and sequencing v2.977 FRMPD4 Catherine Snow reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability - microarray and sequencing v2.728 FRMPD4 Louise Daugherty Phenotypes for gene: FRMPD4 were changed from Mental retardation, X-linked 104, 300983 to Mental retardation, X-linked 104, 300983; global developmental delay; intellectual disability
Intellectual disability - microarray and sequencing v2.727 FRMPD4 Louise Daugherty Added comment: Comment on publications: Added PMID: 29267967 from external review, to support this gene being upgraded to Green
Intellectual disability - microarray and sequencing v2.727 FRMPD4 Louise Daugherty Publications for gene: FRMPD4 were set to 26350204; 24896178; 25644381; 20613765; 23871722
Intellectual disability - microarray and sequencing v2.726 FRMPD4 Louise Daugherty Phenotypes for gene: FRMPD4 were changed from Mental retardation, X-linked 104 300983 to Mental retardation, X-linked 104, 300983
Intellectual disability - microarray and sequencing v2.725 FRMPD4 Louise Daugherty Added comment: Comment on mode of inheritance: reviewed MOI in view of external review
Intellectual disability - microarray and sequencing v2.725 FRMPD4 Louise Daugherty Mode of inheritance for gene: FRMPD4 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v2.617 FRMPD4 Konstantinos Varvagiannis reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29267967, 25644381; Phenotypes: Mental retardation, X-linked 104, 300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes