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| Mendeliome v1.875 | RECQL4 | Zornitza Stark Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400 to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400; RECON progeroid syndrome, MIM# 620370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.874 | RECQL4 | Zornitza Stark Publications for gene: RECQL4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.873 | RECQL4 | Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: 35025765; Phenotypes: RECON progeroid syndrome, MIM# 620370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11113 | RECQL | Alison Yeung Marked gene: RECQL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11113 | RECQL | Alison Yeung Gene: recql has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11113 | RECQL | Alison Yeung Classified gene: RECQL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11113 | RECQL | Alison Yeung Gene: recql has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11110 | RECQL |
Dean Phelan gene: RECQL was added gene: RECQL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RECQL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL were set to PMID: 35025765 Phenotypes for gene: RECQL were set to Photosensitivity; facial dysmorphism; xeropthalmia; skeletal abnormalities Review for gene: RECQL was set to AMBER Added comment: PMID: 35025765 - Homozygous missense variants identified in two seemingly unrelated families with a genome instability disorder. Both families had the same missense variant. Phenotype was progeroid facial features, skin photosensitivity, xeroderma, and slender elongated thumbs. Sources: Literature |
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| Mendeliome v0.11083 | RECQL4 | Seb Lunke Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11083 | RECQL4 | Seb Lunke Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11083 | RECQL4 | Seb Lunke Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11082 | RECQL4 | Seb Lunke Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11081 | RECQL4 | Seb Lunke reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RECQL4 was set to Unknown |
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