Retinal disorders

Gene: KIAA1549

Green List (high evidence)

Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic variants with retinal phenotype. However, there is no published evidence linking monoallelic variants to retinal disorder. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.

Created: 14 Oct 2025, 11:42 a.m. | Last Modified: 14 Oct 2025, 11:42 a.m.

Panel Version: 8.42

PMID:23105016 (2013) reported autozygome-guided exome sequencing in a large cohort of ~150 families with retinal dystrophy, where a novel truncating variant was identified in KIAA1549 as the only variant that remained after filtering in one family.

PMID:30120214 (2018) reported the identification of a homozygous missense and a homozygous frameshift variants in KIAA1549 gene via WES in two unrelated families with retinitis pigmentosa.

There were two additional cases reported with biallelic KIAA1549 variants and retinitis pigmentosa in two different large cohort studies (PMID:31213501 (2019) & PMID:36819107 (2023)).

PMID:34027671 (2021) reported proteomics study on Pomt1 conditional knockout mouse model, which showed that KIAA1549 is a POMT1 substrate requiring O-mannosylation for proper localization and stability.

I cannot find any published evidence of patient cases of retinal disorders with monoallelic KIAA1549 variants.

Only biallelic variants in KIAA1549 gene have been associated with relevant phenotypes in OMIM (MIM #618613, accessed on 14 October 2025) and Gene2Phenotype (with 'limited' rating on the eye panel). Biallelic KIAA1549 variants have also been associated with retinitis pigmentosa 86 with 'strong' rating by the Retina expert panel on ClinGen (https://search.clinicalgenome.org/CCID:008708)

Created: 14 Oct 2025, 11:14 a.m. | Last Modified: 14 Oct 2025, 11:14 a.m.

Panel Version: 8.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 86, OMIM:618613; retinitis pigmentosa 86, MONDO:0032834

Publications

• 23105016
• 30120214
• 31213501
• 34027671
• 36819107

Green List (high evidence)

No evidence for monoallelic?

Created: 2 May 2025, 7:53 p.m. | Last Modified: 2 May 2025, 7:53 p.m.

Panel Version: 8.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

de Bruijn 2018

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.

Created: 2 Apr 2019, 2:51 p.m.

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:06 a.m.

Red List (low evidence)

Two publications of a possible association with retinal dystrophy - however causal link not proven.

Created: 1 Jun 2016, 10:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PMID: 23105016 PMID: 24938718

Variants in this GENE are reported as part of current diagnostic practice