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| Choanal atresia v0.24 | SMCHD1 | Zornitza Stark Mode of pathogenicity for gene: SMCHD1 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.23 | SMCHD1 |
Zornitza Stark changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. aused by gain of function missense variants with the extended ATPase domain. Sources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Caused by gain of function missense variants with the extended ATPase domain. Sources: Expert list |
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| Choanal atresia v0.23 | SMCHD1 |
Zornitza Stark changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Sources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. aused by gain of function missense variants with the extended ATPase domain. Sources: Expert list |
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| Choanal atresia v0.23 | SMCHD1 | Zornitza Stark edited their review of gene: SMCHD1: Changed mode of pathogenicity: Other; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.23 | SMCHD1 | Zornitza Stark Marked gene: SMCHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.23 | SMCHD1 | Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.23 | SMCHD1 | Zornitza Stark Classified gene: SMCHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.23 | SMCHD1 | Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.22 | SMCHD1 |
Zornitza Stark gene: SMCHD1 was added gene: SMCHD1 was added to Choanal atresia. Sources: Expert list Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 28067909 Phenotypes for gene: SMCHD1 were set to Bosma arhinia microphthalmia syndrome, MIM# 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323 Review for gene: SMCHD1 was set to GREEN Added comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Sources: Expert list |
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