Activity
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| Pigmentary skin disorders v5.16 | CRIPT |
Ida Ertmanska gene: CRIPT was added gene: CRIPT was added to Pigmentary skin disorders. Sources: Literature Q3_26_promote_green tags were added to gene: CRIPT. Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to 24389050; 27250922; 36630262; 37013901 Phenotypes for gene: CRIPT were set to Rothmund-Thomson syndrome, type 3, OMIM:615789; Rothmund-Thomson syndrome type 3, MONDO:0014347 Review for gene: CRIPT was set to GREEN Added comment: PMID: 37013901 Averdunk et al., 2023 Report of 2 probands diagnosed with Rothmund-Thomson syndrome, harbouring biallelic CRIPT variants. P1 - 4yo Moroccan female, homozygous for CRIPT: c.132del, p.Ala45Glnfs*86 P2 - 8yo Romanian male homozygous for CRIPT: c.227G>A, p.(Cys76Tyr) Both patients had facial rash, poikiloderma, sparse hair, short stature, syndactyly of toes, seizures, abnormal teeth, developmental delay, recurrent chest infections; P1 also had cataracts, dystrophic nails, and a proximally placed thumb; only P2 had microcephaly. Also includes literature review of previously reported patients (PMID: 36630262 Akalın et al., 2023; PMID: 27250922 Leduc et al., 2016; PMID: 24389050 Shaheen et al., 2014) - 4 unrelated probands with unique biallelic CRIPT variants: hmz c.133_134insGG, p.(Ala45Glyfs∗82); hmz c.141del p.(Phe47Leufs∗84); comp het c.8G>A p.(Cys3Tyr) & 1,331 bp del exon 1; hmz c.7_8del; p.(Cys3Argfs∗4). 2 individuals were from Saudi Arabia, one from Turkey, and one African American. Phenotype: facial rash (3/4), poikiloderma (2/4), short stature (4/4), sparse hair (3/4), Osteopenia/metaphyseal striations (4/4), dystrophic nails (1/4), syndactyly of toes 4&5 (4/4), proportional microcephaly (4/4), dev delay (4/4), recurrent chest infections (4/4), anemia (3/4), variable retinal defects (4/4), abnormal teeth (2/4), scoliosis (4/4), 11 pairs of ribs (2/4). None of the patients had cataracts. Microcephaly severity: PMID: 27250922 head circumference was 47 cm (Z=−2.7) at 4 yrs. PMID: 24389050: individuals had head circumference of 45 cm (-2.5SD) and 35 cm (-2.7 SD) respectively at time of report. PMID: 36630262 - proband OFC was 44cm at last evaluation (-4.63 SDS). Sources: Literature |
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| Pigmentary skin disorders v1.51 | TYR | Arina Puzriakova Phenotypes for gene: TYR were changed from ALBINISM, OCULOCUTANEOUS, TYPE IA; Oculocutaneous albinism; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | TYRP1 |
Catherine Snow Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1 Publications for gene TYRP1 were changed from to 9345097 |
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| Pigmentary skin disorders v0.27 | TYR |
Catherine Snow Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR Publications for gene TYR were changed from to 18326704 |
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| Pigmentary skin disorders v0.25 | TYRP1 | Tom Cullup reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345097; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE III, OCA3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | TYR | Tom Cullup reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18326704; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IA, OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB, OCA1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | TYRP1 | Rebecca Foulger Source London North GLH was added to TYRP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | TYR | Rebecca Foulger Source London North GLH was added to TYR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism |
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| Pigmentary skin disorders v0.3 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Oculocutaneous albinism |
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