| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bilateral congenital or childhood onset cataracts v2.98 | EED | Ivone Leong Tag for-review was removed from gene: EED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.98 | EED | Ivone Leong commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.97 | EED |
Ivone Leong Source Expert Review Red was added to EED. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Bilateral congenital or childhood onset cataracts v2.37 | EED | Ivone Leong reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.37 | EED | Ivone Leong Tag for-review tag was added to gene: EED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.37 | EED | Ivone Leong Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.23 | NACC1 | Ivone Leong Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306 to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, OMIM:617393, MONDO:0044306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.22 | NACC1 | Ivone Leong Phenotypes for gene: NACC1 were changed from Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, OMIM:617393, MONDO:0044306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.17 | SREBF1 |
Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Cataracts. Sources: Literature Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 32497488; 31790666; 32902915 Phenotypes for gene: SREBF1 were set to Mucoepithelial dysplasia, hereditary, MIM#158310 Review for gene: SREBF1 was set to GREEN Added comment: HMD phenotype: 5 unrelated families reported with heterozygous variants at same residue (p.Arg557Cys and p.Arg557His) and a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Individuals developed cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses. Needs to be added to skin panels, in addition to the already described IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016 phenotype. Sources: Literature |
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| Bilateral congenital or childhood onset cataracts v2.6 | NACC1 |
Zornitza Stark gene: NACC1 was added gene: NACC1 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393) Review for gene: NACC1 was set to GREEN gene: NACC1 was marked as current diagnostic Added comment: 7 unrelated individuals with recurrent de novo heterozygous missense variant c.892C>T p.(Arg298Trp). 5 out of 7 had bilateral cataracts. Sources: Expert list |
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| Bilateral congenital or childhood onset cataracts v2.6 | EED | Zornitza Stark reviewed gene: EED: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen-Gibson syndrome, MIM# 617561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts | EED | Sarah Leigh classified EED as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts | EED | Sarah Leigh added EED to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts | EED | Sarah Leigh reviewed EED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||