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Infertility and Recurrent Pregnancy Loss v1.7 DNAH10 Zornitza Stark Marked gene: DNAH10 as ready
Infertility and Recurrent Pregnancy Loss v1.7 DNAH10 Zornitza Stark Gene: dnah10 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.7 DNAH10 Zornitza Stark Classified gene: DNAH10 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v1.7 DNAH10 Zornitza Stark Gene: dnah10 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.6 DNAH10 Zornitza Stark gene: DNAH10 was added
gene: DNAH10 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert list
Mode of inheritance for gene: DNAH10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH10 were set to 34237282
Phenotypes for gene: DNAH10 were set to Spermatogenic failure 56, MIM# 619515
Review for gene: DNAH10 was set to GREEN
Added comment: 4x families with 5 affecteds (chets and homs - 4 missense and 2 fs). Knockout mouse models were infertile and showed significant reduction in count and motility compared to heterozygous mice
Sources: Expert list
Infertility and Recurrent Pregnancy Loss v0.82 DNAH12 Zornitza Stark Marked gene: DNAH12 as ready
Infertility and Recurrent Pregnancy Loss v0.82 DNAH12 Zornitza Stark Gene: dnah12 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.82 DNAH12 Zornitza Stark Classified gene: DNAH12 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.82 DNAH12 Zornitza Stark Gene: dnah12 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.81 DNAH12 Zornitza Stark gene: DNAH12 was added
gene: DNAH12 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: DNAH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH12 were set to 39071892; 40146200
Phenotypes for gene: DNAH12 were set to Spermatogenic failure 100, MIM# 621209
Review for gene: DNAH12 was set to GREEN
Added comment: Twelve individuals from 7 families and two mouse models support this association.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.74 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Infertility and Recurrent Pregnancy Loss v0.74 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.74 DNAH11 Zornitza Stark Classified gene: DNAH11 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.74 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.63 DNAH11 Jasmine Chew gene: DNAH11 was added
gene: DNAH11 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH11 were set to 39256880; 32172300
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, # MIM 611884
Added comment: i) PMID: 39256880- Four unrelated asthenoteratozoospermia Chinese males with biallelic deleterious variants in the DNAH11 gene, and 7 of those variants are novel. These variants led the absence of DNAH11 proteins and ultrastructure defects in sperm flagella, particularly affecting the outer dynein arms (ODAs) and adjacent structures. The levels of ODA protein DNAI2 and axoneme related proteins were down regulated.

ii) PMID: 32172300- One infertile woman with a homozygous truncating variant, p.(Arg3229Trp), presented with primary infertility only. She had three cycles of IVF and had one clinical pregnancy that, unfortunately, ended in a spontaneous loss during first trimester.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.37 DNAH1 Zornitza Stark Marked gene: DNAH1 as ready
Infertility and Recurrent Pregnancy Loss v0.37 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.37 DNAH1 Zornitza Stark Classified gene: DNAH1 as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.37 DNAH1 Zornitza Stark Gene: dnah1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.29 DNAH8 Jasmine Chew gene: DNAH8 was added
gene: DNAH8 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: DNAH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH8 were set to 32619401; 32681648; 36308074; 33704367
Phenotypes for gene: DNAH8 were set to Spermatogenic failure 46, MIM# 619095
Review for gene: DNAH8 was set to GREEN
Added comment: Literature in OMIM- PMID: 32619401;32681648- multiple cases with multiple morphologic abnormalities of the sperm flagella (MMAF) carrying biallelic variants

New papers:
i) PMID: 36308074- A novel homozygous frameshift variant in DNAH8 causes MMAF in a consanguineous Pakistani family. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 variant. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Immunofluorescence assay also showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa.

ii) PMID: 33704367- Two unrelated infertile Chinese patients with MMAF carrying different compound heterozygous variants. Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.29 DNAH1 Jasmine Chew changed review comment from: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF)
Sources: Literature; to: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) carrying biallelic variants
Sources: Literature
Infertility and Recurrent Pregnancy Loss v0.29 DNAH1 Jasmine Chew gene: DNAH1 was added
gene: DNAH1 was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH1 were set to 24360805; 27798045; 27573432; 28552195; 28577616; 29449551
Phenotypes for gene: DNAH1 were set to Spermatogenic failure 18 , MIM# 617576
Review for gene: DNAH1 was set to GREEN
Added comment: Literature in OMIM- PMID: 24360805, 27798045, 27573432, 28552195, 28577616, 29449551- multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF)
Sources: Literature