Prepair 1000+

Gene: RPL10

Green List (high evidence)

Clinical features can include intellectual disability, seizures, microcephaly, hypotonia, hearing loss, ataxia, dysmorphic facial features, cardiac anomalies, and short stature. Progressive microcephaly, up to -9.6 SD described. Can present prenatally with IUGR. Model animal present.

Additional study - PMID 35876338 - describe additional phenotypic component of retinal degeneration. All 4 individuals in study (from 3 unrelated families) with retinal degeneration had p.(Arg32Leu) variant

Created: 9 Dec 2024, 1:17 a.m. | Last Modified: 9 Dec 2024, 1:17 a.m.

Panel Version: 1.633

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked syndromic 35 MIM#300998

Publications

• 25316788
• 25846674
• 26290468
• 29066376
• 35876338

Green List (high evidence)

At least 9 individuals from three unrelated families reported, sufficient evidence for gene-disease association to include in a screening panel.

Created: 18 Aug 2022, 6:08 a.m. | Last Modified: 18 Aug 2022, 6:08 a.m.

Panel Version: 0.136

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998

I don't know

Excluded from latest version of MM gene list.

Seb (in MM panel): Comment on list classification: Amber for MM gene list as disputed for autism and rare for ID.

Green in ID gene list

Created: 14 Jul 2022, 4:50 a.m. | Last Modified: 14 Jul 2022, 4:50 a.m.

Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998

Publications

• 25316788
• 26290468
• 25846674
• 29066376